Recurrent Cystic Hygromas

155 Comments:

• At Tue Feb 05, 03:09:00 AM 2008,  Anonymous said…

  I am 31 and 12 weeks along. My baby was diagnosed with cystic hygroma last week. The doctor said it was small. He also informed me that 60% of cystic hygromas have a chromosome abnormality. Once we are tested and if the test comes back with good results, when I am 18 weeks along we can have a structural test performed. I f that happens to come back with good resullts then my baby has an 80% chance of doing well. My husband and I are going to speak to a genetic counselor this week. We want to be well informed. We are both in the military and have health insurance and want every test conducted. We are troubled because we have yet to see the statistics our doctor gave us posted on the internet. We want so bad to read about positive outcomes. Please if you could, give us your opinion about the percentages.

   

• At Mon Feb 11, 01:22:00 PM 2008,  Kristi said…

  Dear Dr. T,
  I just wanted to give you an update, I had my CVS test last Friday and the results came back today and all chromosomes are normal. I know I still have a long road ahead, but this was a huge sigh of relief. I We also found out that we are having another girl :). Thanks again for your great advice. will keep you updated as my pregnancy continues.
  Kristi

   

• At Mon Feb 11, 11:13:00 PM 2008,  CJay said…

  I am 36 and have been living with Cystic Hygroma all of my life. My husband is active duty military. I am living proof there can be positive results from CH. More importantly, I have learned a lot about maximizing the benefits through Tricare and would LOVE to help share my knowledge of getting the services you need approved by Tricare which may include care outside of your area with doctors who have a special knowledge of this condition. I have an online support group for people with CH mostly families with children who have CH. Please contact me if you would like help with Tricare and connecting to a support group.

   

• At Tue Feb 12, 04:32:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Anonymous Feb 5: In general, the information your doctor has provided it accurate, presuming the diagnosis of "cystic hygroma" is accurate. Did your doctor tell you whether it was 'septated' or not. I usually tell my patients that more than 50% of septated cystic hygromas are associated with chromosomal abnormalities, some of which are lethal and some of which are not. In general, the larger the cystic hygroma, the greater the likelihood of fetal 'hydrops' (basically, heart failure), regardless of the cause and the poorer the prognosis. If your baby is chromosomally normal and has a normal heart or a non- lethal cardiac defect,there is about a 15-20% chance of the baby doing well in the long run, although there is still the possibility of a 'syndromic' or other genetic condition. Best of luck with everything and I hope things turn out well for you. Please let us know! Dr T

   

• At Fri Feb 15, 04:47:00 AM 2008,  Kristi said…

  Dear Dr. T,
  Thank you for the case studies and for getting back to me. I had the CVS test done and all the chromosomes are normal. I will go back in 3 weeks for another high level sono, then in another 3 weeks for the level 2, then 2 weeks for the fetal echo. We are very happy with the results, but know we have a very long road ahead. I will certainly keep in updated on our progress.
  Best regards,
  Kristi

   

• At Fri Feb 15, 10:02:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Kristi: So far so good! Thanks for letting us know and sharing with our other readers! Hang in there and keep your chin up. Dr T

   

• At Fri Feb 15, 11:16:00 PM 2008,  Anonymous said…

  cjay, My husband and I have just recently discussed long term insurance issues. It sounds like TRICARE has been very beneficial to you. I am really hoping that everything turns out positive for us and this discussion won't be needed. It is however nice to know that you are more than willing to inform me about the TRICARE procedures. I have a few questions for you personally. . . if you don't mind? Can you tell me what it is like living with CH? What health issues you deal with? Were you diagnosed with a chromosome or genetic abnormality? We have the amneo done on the 6th of March and just want the best outcome. We constantly think about the quality of life but hardly here about adults living with this. I just want to be more informed. The more I read, the less I panic. My husband and I have been reading more about the syndromes lately, wanting to know the long term effects. We are getting braver and more willing to except what the future holds. I would love the link to your website. Thank you!

   

• At Sun Feb 17, 09:30:00 PM 2008,  Anonymous said…

  Dear Dr. T,
  I am 38 years old and pregnant for the first time (now 15 weeks). At 11.5 weeks the baby was diagnosed with a septated cystic hygroma and enlarged nuchal fold (3.3mm). The CVS results came back normal and the 14 week ultrasound revealed no obvious structural abnormalities. Given the high risks associated with septated cystic hygromas, we have considered terminating the pregnancy. We would like to know, however, whether the fact that there is currently no visible abnormality changes the risks we are facing. Is there anything we can rule out at this stage? If the baby were born without any structural anomolies, would the septated cystic hygroma itself affect his/her health? We are obviously very anxious and would be grateful for your advice.

   

• At Fri Feb 22, 06:04:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To cjay Feb 11: Thank you for your comment and for sharing your story.If you are born with a cystic hygroma, the medical challenges may follow you the rest of your life. I am sure there are other readers who will appreciate the information. Best regards, Dr T

   

• At Fri Feb 29, 05:24:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Feb 17: About the only thing you can rule out (probably, but not completely) is a chromosomal abnormality. An ultrasound at 15 weeks is not adequate to rule out certain congenital abnormalities, especially congenital heart defects. If the baby is chromosomally normal, has no major structural abnormalities, and no 'syndromic' (genetic) abnormalities, life may be more or lesss complicated after delivery. Please see the comment from cjay (Feb 11) that refers you to a site (Tricare) devoted to people born with cystic hygromas. Thanks for reading and best of luck to all of you! Dr T

   

• At Tue Mar 04, 03:17:00 PM 2008,  Anonymous said…

  I'm 38 and 11 weeks my husband and I found out last week that our baby has cystic hygroma. We had the CVS test done and the baby was cleared of any chromosome abnomalities. Next we are scheduled for the structural test followed by the heart test. we were told that if we're cleard of all of that then our baby has a 80% chance of doing well. We were told that we wouldn't know until the baby is about 3 if there's any problems such as autism, etc. Help...

   

• At Wed Mar 05, 10:11:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Anonymous Mar 4: Based on what you have told me, I believe your doctors have given you accurate information. Can you tell me how thick the nuchal translucency measurement was and whether or not the 'cystic hygroma' was septated or simple? By the way, why did the question of "autism" arise? I don't know of any associations between cystic hygromas and autism, but if your doctors are aware of the same, I would certainly appreciate knowing. Best of luck to you! I am betting on a good outcome. Dr T

   

• At Wed Mar 05, 11:55:00 AM 2008,  Anonymous said…

  Hi Dr T. thanks for responding to me I'm anonymous March 4. Well I was wondering about autism since its on the rise. I didn't know what the 20% chance of what would be wrong with the baby... My doctor didn't give the size if the Cystic Hygroma but he said when we came back it would probably be gone since it was very small. So I guess my question is what could possibly be wrong with the baby if it clears the structural test and the echocardiogram...

   

• At Wed Mar 05, 01:19:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Mar 5: I am betting right now that there is absolutely NOTHING wrong with your baby based on what your physician told you. Sometimes the NT measurement is hard to obtain and the external edge of the skin is confused with the amnion (the inner 'bag' of the 'bag of waters that is separated from the outer 'bag'(chorion) until later in first trimester). Please let me know if I am wrong! Again, best wishes and let us know how things turn out! Dr T

   

• At Thu Mar 13, 09:43:00 PM 2008,  Anonymous said…

  First of all, thanks so much for your website. It's so unnerving to go through this. Seeing and hearing the same questions many others have is a good support. In the several conversations I have had with OB's and the lack of knowledge they have about cystic hygromas is alarming. Did you specialize in this? Are you a high-risk prenatal specialist?
  
  My big question is based on the FASTER study. Have you heard of this before? The statistics laid out for infants with no chromosomal issues is still concerning. We have passed the chromosomal issue and are waiting for the heart and structural evaluations in a few weeks. The statistics show there is only a 20%chance of a normal pediatric outcome, 25% chance of heart abnormalities, 55% of physical malformations. However the conclusive remarks indicate if we pass through the heart and structural issues, we are 95% clear for a normal outcome.
  
  Also, if a baby was born with the cyst still in it's neck area, can it be removed at birth?
  
  If a ch resolves in utero, how much does this decrease the chances of all of the mentioned concerns?
  
  Sorry for all the q's. As many parents on your site, it's a crushing and devastating thing to go through.
  
  And what's this about Asian's being dominant!?

   

• At Tue Mar 18, 09:28:00 AM 2008,  Anonymous said…

  i`m 23 years old,my son borned with large cystic hygroma (about 10*10 c.m),it removed by syrgery when he was 3 days, now he is 30 days & there is another cystic hygroma observed at his neck ,is there any medicin or solution for this??

   

• At Wed Mar 19, 06:31:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Mar 13: I am a specialist in maternal-fetal medicine. I am well aware of the FASTER trial and have used the results of that trial and others in counseling patients on this site. The bottomline is that the more "normal" things a baby has going for it (including resolution of the cystic hygroma while still in utero) the greater the likelihood for a normal outcome. Attempts can be made to remove cystic hygromas and perform plastic surgery to improve the baby's appearance if necessary, but if the underlying reason is not addressed, they are prone to recurrence as mentioned in the comment following yours by another reader. Good luck to you and please let us know how things turn out. Dr T

   

• At Wed Mar 19, 06:33:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Mar 18: Unless the reason for the cystic hygroma is corrected, repeated operations may be necessary to improve your baby's appearance. There is no "medicine" that will help at this time since cyystic hygromas are often the consequence of abnormal lymphatic drainage from that portion of the baby's anatomy. Best wishes to you. Dr T

   

• At Fri Mar 21, 09:22:00 PM 2008,  Anonymous said…

  Thank you doctor. I am "Anonymous from March 13th" I appreciate your feedback. As an update, I called the head radiologist to clarify if he could, whether or not the ch was septated or simple. Amazingly, he re-read what another radiologist stated as a ch and said it is acutally a nuchal thickening. Also, our CVS and FISH results came back with all looking normal w/o chromosomal abnormalities.
  
  Things seems to look more promising. I am going back for my week 16 appt for another ultrasound to get an update. Could it turn into a ch? I heard with a nuchal thickening the chances for a normal pediatric outcome can increase up 98% What exactly are the effects of a nuchal thickenign on a newborn/child? Have you found this to be true in most of your patients with this? Do you have concerns with medical excessive u/s? What would you consider to be too much?

   

• At Mon Mar 24, 05:36:00 AM 2008,  Anonymous said…

  My husband and I are also dealing with having a cystic hygroma diagnosed at 9 weeks and a normal karyotype via CVS. I don't have much to add except the FASTER study is really the only concrete evidence that seems to be useful to help base any decisions. The FASTER study is 10x more useful than our genetics counselor and our ob/gyn combined when it comes to statistics and any type of advice. I can't believe that with something that seems to occur in 1 in 300-350 pregnancies that this is the only controlled study out there. They have known about cytic hygromas since the 1800's. We need to encouage that more research be performed on this diagnosis. We are at 14 weeks and the uncertainty of our baby's future is torture.
  
  My only questions are, is there any research/knowledge regarding "is it worse to find a cystic hygroma at 9 weeks versus later like at 12 weeks?", does the size of the cystic hygroma have any clinical implications, and should I be demanding frequent ultra sounds because is there any correlation with when the hygroma resolves and clinical outcome?

   

• At Wed Mar 26, 06:45:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Mar 21: So far so good. There is a wide range of 'normal' for the nuchal translucency, so your baby may well ahve no problem at all. It is unlikely to turn into a cystic hygroma. The next thing that you need to rule out is a cardiac malformation and if there is none, then there is a very good chance you have done a lot of worrying for nothing. With regard to "too many ultrasounds", all I can say is that there does not appear to be much risk and at this point, the reassurance they offer are worth any small risk. I did publish a post on ultrasound risks sometime in the past year, but I cannot remember exactly when that was. Some have correlated ultrasound exposure with left-handedness and I think that was what the post was about! Good luck to you and let us know how things turn out - I BET FINE! Dr T

   

• At Wed Mar 26, 07:21:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Mar 24: I KNOW it is torture. The size and whether or not it continues to grow are more important when it was first detected. And, of course, also important is the underlying cause and whether or not the baby develops hydrops. Undr these circumstances, most doctors will offer you more frequent ultrasounds to look for evidence of fetal abnormalities, hydrops (heart failure), and to assess fetal growth. Even though the ultrasounds may not affect outcome, any problems identified before the baby is born that are potentially correctible, may help the neonatal care team prepare for delivery to optimize the baby's outcome. Good luck to you and please let us know what you find out along the way. Dr T

   

• At Sat Mar 29, 12:40:00 PM 2008,  Anonymous said…

  I have a question. I am 34 yrs old and currently 11 weeks along with my third pregnancy. I have a perfectly healthy 3 yr old daughter. Unfortunately, I lost my second pregnancy at 23 weeks. It was very difficult for me, especially since I had to go through labor after I knew my baby had died. After he was born, the OB found a large hygroma, and this was confirmed by the ultrasound we had done immediately prior to labor induction. We are very "natural" people. We had planned to not do any ultrasound during pregnancy, as long as all signs appeared normal, and we had planned for a home birth (like I did for my first daughter). This time around, I would like to do an ultrasound, for peace of mind, but I do not plan on terminating the pregnancy if anything is detected. I am thinking of doing it around the 20 week mark, but was wondering, when is the best time to find out with the least amount of uncertainty? I have no need of doing it early on, as I don't wish to worry and fret unnecessarily. So far my pregnancy is progressing well, much like my first. Also, I would like to know, what are the chances I will have another baby with cystic hygroma? We did do genetic testing with the second, but I became pregnant before we got the results. So now I don't want to get the results because I don't want to stress out too much, when there's nothing I can do and I'm already pregnant anyway!

   

• At Tue Apr 01, 06:25:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Mar 29: It is highly likely that the baby you lost had a chromosomal abnormality. If I was going to pick anytime in a pregnancy to do one ultrasound, it would be at 18-20 weeks. Most (not all) major abnormalities can be detected at that time and your doctors can look for 'soft markers' of chromosomal banormality even if no major structural defects are readily identified. Good luck to you and please let us know how things turn out. The odds are in your favor everything will be fine this time. Dr T

   

• At Wed Apr 09, 12:03:00 PM 2008,  Anonymous said…

  Dear Dr. T,
  I am 30 year old and i am 12 weeks pregnant with our second baby. My baby is diagnosed with cystic hygroma and enlarged nuchal fold (9.5mm). The CVS results came back normal. This gets me even more worried .My doctor mentioned that the NT is very large and is alarming.
  So far the heart seems to be functioning well beat ranging from 150 - 170.
  What are my chances of having a normal healthy baby? What are the steps that we should consider as next measures?
  
  I am anxiously waiting for your answer.
  Thank you.

   

• At Tue Apr 15, 04:58:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Apr 9: If the cystic hygroma is very large, the baby could have a cardiovascular malformation, a syndromic problem, a lymphatic obstruction, or even a chromosomal mosaicism that was not detected by the CVS. The prognosis is not good, even if the baby is chromsomally normal, with intact survival rates in the range of 20% or less. But, there is a chance so hang in there a little longer. Nature has a way of making decisions for us when there really are bad problems. Sorry, I know you are going through a lot right now. Please let us know what happens. Dr T

   

• At Tue Apr 22, 01:29:00 PM 2008,  Anonymous said…

  Dear Dr. T,
  
  I went for my u/s last Friday (12 weeks into my pregnancy) and it showed that my baby had cystic hygroma which was from the neck to the lower back measuring 7mm. We went for another u/s which a high risk pregnancy doctor did the same afternoon, and the doctor said the same thing. She also said, there is only a 15% chance my baby will turn out normal or that I might lose the baby. I was going for a CVS yesterday, but my husband said we shouldn't and just leave it all up to God and pray. This might sound silly and I might be getting my hopes up, but does the number of weeks matter if let's say I am around 14 weeks into my pregnancy when I had the u/s done? I think I may have miscalculated the first day of my last menstrual period.

   

• At Tue Apr 22, 03:48:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Apr 22: I am sorry, but when a cystic hygroma is that large, the chance of survival is very poor, whether or not the baby is chromosomally abnormal. The CVS could give you the answer regarding chromosomal status right now, but letting "nature take its course" is also a reasonable alternative. If you lose the baby, I would recommend that you have chromosomal studies done after the baby is delivered for counseling purposes. I am so sorry and my heart goes out to you. By the way, sometimes miracles do happen! Dr T

   

• At Mon Apr 28, 02:08:00 PM 2008,  Anonymous said…

  Dear Dr. T,
  
  Thank you for your response to my question (anonymous, April 22). I am just 27 years old, healthy, and do not drink, smoke or have not been taking any pills or any sort except for prenatal vitamins. My husband is the same way and no one in our family have birth defects. My Nuchal Translucency blood test came out abnormal and I am just wondering why this happened. What could have been the cause? Could it have been that I had a bad cold during the first few weeks of my pregnancy? I am just so confused why this is happening to me. Are my doctors accurate in saying that my baby only has a 15% chance of survival?

   

• At Mon Apr 28, 02:53:00 PM 2008,  Anonymous said…

  Dear Dr. T,
  
  I am 14 weeks pregnant with identical twins. At my 9 weeks ultrasound, we found out that one of the babies (baby B) had cystic hygroma. The other baby (baby A) looks normal. We had a second ultrasound done at the Fetal Maternity Medicine at 13 weeks. The result was the same and the fluid already entered the heart and lung areas of the sick baby. I had CVS test done and it came back positive with Turner's Syndrome. However, I am not sure if my babies are really identical twins. My doctor said that they are in two sacs, with one placenta, but what is the odd of me having a fused placenta? Baby A looks very normal with no NT or fluid issue, but baby B is very sick. If they are identical, wouldn't both of them be sick? What is the odd that only baby B has Turner's Syndrome, but baby A does not have the disorder even they are identical twins? If baby A does have the same problem, will she have cystic hygroma further down the pregancy? We are very anxious and confused. Hope to hear your advice.

   

• At Mon Apr 28, 02:57:00 PM 2008,  ccmom said…

  Dear Dr. T,
  
  I am 14 weeks pregnant with identical twins. At my 9 weeks ultrasound, we found out that one of the babies (baby B) had cystic hygroma. The other baby (baby A) looks normal. We had a second ultrasound done at the Fetal Maternity Medicine at 13 weeks. The result was the same and the fluid already entered the heart and lung areas of the sick baby. I had CVS test done and the result was positive with Turner's Syndrome. However, I am not sure if my babies are really identical twins. My doctor said that they are in two sacs, with one placenta, but what is the odd of me having a fused placenta? Baby A looks very normal with no NT or fluid issue, but baby B is very sick. If they are identical, wouldn't both of them be sick? What is the odd that only baby B has Turner's Syndrome, but baby A does not have the disorder even they are identical twins? If baby A does have the same problem, will she have cystic hygroma further down the pregancy? We are very anxious and confused. Hope to hear your advice.

   

• At Mon Apr 28, 07:08:00 PM 2008,  Anonymous said…

  I am 16 weeks and I just learned my baby girl has cystic hygroma and hydrops. What is the likihood of the baby surviving and being healthy? If the baby won't likely make it, what is the liklihood she will pass away in utero or will she make it full term? I just lost my son last year to Potter's Syndrome. At least with him I knew that the average delivery date was around 33 weeks and I went 34 weeks.

   

• At Thu May 01, 05:27:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Apr 28 02:08: The primary causes of fetal cystic hygromas associated with hydrops are chromosomal abnormalities, cardiovascular malformations, genetic (or syndromic problems), and com=ngenital infections. There are some inheritable conditions where the babies are otherwise normal, but these are very rare in occurrence. If you were very sick early in the pregnancy, you might have your doctor screen you for cytomegalovirus, Epstein-Barr virus, and Toxoplasmosis infections. Unfortunately, from what you have told me, your doctor's prognosis of 15-20% survival is probably accurate. I am sorry. Dr T

   

• At Thu May 01, 05:39:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To ccmom Apr 28: Hard call. It is not at all infrequent to have fraternal (nonidentical) twins to have a 'fused placenta'. If ultrasound indicates that the babies are MONOCHORIONIC (share a common outer membrane), diamnionic (have separate internal sacs), then they must be identical. Unfortunately, if they are DICHORIONIC, diamnionic, they could be either fraternal or identical. When Identical twins come about from a split very early in embryogenesis, they are more likely to be in this situation, but still often share a fy=used placenta. If the babies are identical, then both will have Turner's syndrome (45, XO), however, not all baby's with this chromosomal abnormality will have identical complications related to it. Some will have all of the characteristic external features, but no other major malformations and others may have severe abnormalities, including cardiovascular malformations, which might contribute to the development and size of a cystic hygroma. You can eventually find out if the other baby has Turner's as well by having an amniocentesis done, or you can simply wait to see what happens. Both babies (if the one survives) will need very careful ultrasound assessment performed later in the pregnancy to evaluate for malformations and fetal growth. Sorry for your predicament, I know things are difficult right now, but please let us know how things turn out. Dr T

   

• At Thu May 01, 05:52:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Apr 28 07:08: If your baby has hydrops associated with its cystic hygroma, the prognosis is poor. No more than 15-20% of these babies will survive the pregnancy. I am curious though. Do your doctors know why your other baby had Potter's syndrome? Lot's of different conditions can lead to nonfunctioning or absent kidneys and they all get lumped under "Potter's Syndrome." But Potter's syndrome by itself is NOT a disease and whenever bad things happen to a patient more than once where fetal abnormalities are involved (even if the abnormalities appear to be different), I can't help but wonder if they are somehow related. You might ask to discuss this possibility with a genetic counselor. Best wishes to you and please let us know what you find out and how things turn out. Dr T

   

• At Thu May 01, 11:46:00 AM 2008,  Anonymous said…

  Dr. T: On 04/12/08, you posted the following:
  
  "If your baby is chromosomally normal and has a normal heart or a non- lethal cardiac defect,there is about a 15-20% chance of the baby doing well in the long run, although there is still the possibility of a 'syndromic' or other genetic condition."
  
  Is this accurate? We have a baby diagnosed with a Cystic Hygroma. Chromosomes came back normal. I am now hoping that the hygroma goes away and that we see no hydrops. Assuming that future development is fine, are we still looking at only a 15-20% chance the baby will be ok? Also, if things do not go well, what are the chances the baby will make it to term with major cardiac problems versus not making it to term?
  
  Thank you for your time.
  
  Chad

   

• At Thu May 01, 01:22:00 PM 2008,  Anonymous said…

  Dr. T. I just want to thank you for your site. I am also 31 and now 14 weeks pregnant (first pregnancy) and my baby was diagnosed last week with CH. My husband and I have been searching the internet for information. Your site and your responses give us the best information. We are praying for a miracle and will cling on to that belief. I appreciate that your responses to everyone are both honest, yet not completely dismal. It seems to me that you are honest with yet the belief there can be hope. I hope that I am reading your outlook correctly because I appreciate your site. Sounds like you are busy and your time to people in our situation is valuable beyond measure. I believe you will be rewarded immensely.
  
  I guess I only have one question. What can a fetal-maternal specialist provide? My obst says we will get all test results and then just monitor until later and then maybe have specialist consulted. I feel like I should get consult now w/ fetal maternal specialist to make sure I am doing everything possible. Is this premature? Another question: why is there no in-utero surgery to remove the fluid? this is clearly optimistic, but seems that with our modern advances that it would be possible to attempt to remove or diminish the CH to avoid the fetalis hydrops? I suppose this is optimistic to even think of, but wondering your thoughts on.
  
  Thanks again.

   

• At Sat May 03, 07:29:00 PM 2008,  Anonymous said…

  Dr. T - A 5.4mm cystic hygroma was diagnosed via ultrasound at 13wks 5 days. CVS came back normal. Our genetic counselor cited the FASTER study by first author Malone and said our chance of having a healthy baby is now at 50%, while chance of physical defect is approximately the same. The study showed that 22 of 65 pregnancy with normaol karyotype resulted in healthy birth and 22 of 65 resulted in physical anomoly. Does this statistic sound correct to you? I have read your posts that the chance of healthy birth is only 15%, and I am trying to understand this discrepancy. Finally, how does the prognosis change for septate CH vs. non-septated? What is the "cut off" point at which increased nuchal translucency become CH - how many mm?

   

• At Tue May 06, 04:21:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Chad May 1: The discrepancy comes from whether or not the baby has HYDROPS (usually secondary to heart failure or severe metabolic disturbance under these circumstances). Even if these babies are chromosomally normal, the out come is very poor. If the baby has a simple cystic hygroma and no hydrops and is chromsomally normal, the prognosis is much better, probably more in excess of 50%. Please let us know what you find out along the way and how things turn out. Dr T

   

• At Tue May 06, 04:26:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous May 1: I am certainly biased, but I suggest you see an MFM specialist now. Depending on your circumstances, there may be other diagnostic studies that might be appropiate and they are in the best position to offer you ongoing high level ultrasound evaluation of the baby, to answer your many questions, AND counseling as needed.
  
  The problem with the cystic hygroma is often not the fluid itself, but why the fluid is there in the first place. Therefore, just draining it will probably not work and may actually harm the baby. Your MFM will be able to explain that to you in more detail! Thanks for reading and I wish you the best. Let us know how things turn out. Dr T

   

• At Tue May 06, 04:33:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous May 3: Babies with cystic hygromas and hydrops have the poor outcomes, even if they are chromosomally normal. It is those babies that have only a 15-20% chance of ending up okay. Septated cystic hygromas have a very high rate of aneuploidy for reasons that are unclear to me. There is no absoluet 'cutt-off' for what is a cystic hygroma and what is not. We start worryng whn the NT measurement starts getting > 2.5mm and we routinely offer invasive diagnostic study when it is > 3.5 mm. In between depends on the counseling, other concerns, and patient's wishes. Wish it was more black and white, but that's the business we're in - lots of shades of gray! Good luck to you and I hope everything turns out fine! Dr T

   

• At Thu May 08, 08:58:00 AM 2008,  Stacy D said…

  Dr.T- I am a 29 year old in my second pregnany. My first pregnancy ended in a missed miscarriage at 13 weeks (baby measured 10weeks) due to triploidy.
  
  I am now almost 15 weeks in my second pregnancy. I went in for an ob appt. and ultrasounds at 12 weeks when both an omphalocele and a cystic hygroma measuring over 8mm were found. All of the CVS testing, including additional testing for DiGeorge Syndrom, was normal.
  
  Any chance these two things could resolve themselves? OUr genetic counselor gave us a prognosis of a 10-15% chance of a positive outcome. Your thoughts?
  
  Also, we would never terminate a pregnancy. So I am wondering, if the baby passes on his own in utero, at what point will a doctor recommend delivering you versus doing a d&c? Would having two d&c's complicate further pregnancies for me?
  
  Thanks for any information you have to offer.

   

• At Thu May 08, 09:19:00 AM 2008,  Stacy D said…

  This post has been removed by the author.

   

• At Fri May 09, 03:18:00 AM 2008,  rachael said…

  I am 25 years old. With my first pregnancy, our boy was diagnosed with a large cystic hygroma,his condition got worse so we had a termination at 16 weeks.My 2nd preegnancy i had a missed miscarriage at 10 weeks. They also found some fluid on the babies neck when we had tests done. Now I'm 15 weeks pregnant with my 3rd baby and he also has a cystic hygroma measuring 9.2mm. So far they have told us that his brain looks abnormal and his kidneys look abnormal.We cant believe this has happened to us again for a 3rd time. All chromosomes are normal. Me and my partner had our bloods taken after the 2nd pregnancy ended to see if the was something wrong with our genes but the bloods came back fine and we were told it was just bad luck and next time it would be normal but it is not. Now they are saying this is not normal for this to keep happening, it is probably due to genetic syndrome of unknown identity.I really don't know how i am going to get through this again. Will me and my partner ever be able to have children together. He already has children and theyb are ok, is there something wrong with me? In desperate need of some advice.

   

• At Fri May 09, 10:58:00 AM 2008,  amrisser said…

  Cystic Hygroma: our pregnancy blog, some hope for those in need...

   

• At Fri May 09, 07:54:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Stacy D: I am concerned that your baby still may have a syndromic (genetic) problem of some kind. Do you have any medical problems such as diabetes? If you lose the baby, you do not necessarily need to have a D&C. A medication called misoprostol is very effective at inducing labor even very early in pregnancy under these circumstances. Best wishes to you and let us know how things turn out. Dr T

   

• At Fri May 09, 07:57:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Rachael: Please read the post under which you left this comment. There are familial (genetic conditions) that lead to recurrence of babies with cystic hygromas, but in some instances, these babies are completely normal otherwise. This is nothing you have any control over so please do not kick yourself. Dr T

   

• At Sat May 10, 03:44:00 AM 2008,  Stacy D said…

  Dr T- Neither my husband or I have any medical problems that came u pin my regular prenatal health history or when meeting with the genetic counselor. I know that CVS doesn't test for individual genes, but could it be that he or I are silent carriers of some gene mutation that could cause something like this? Or, can genetic syndromes be random things that happen at conception or in early fetal development?
  
  We had a prenatal appointment yesterday, and our little guy must be a fighter, as he had a strong heartbeat of 166 bpm. My doctor did say that if we lost the pregnancy at this point, she would recommend having me deliver so that they would be able to autopsy the baby in order to pinpoint what is causing the cystic hygroma and omphalocele.
  
  We have a sono on May 20 and a fetal echocardiogram on May 27.
  
  Is there ever a chance that a cystic hygroma of this magnitude can correct iteself?

   

• At Sun May 11, 05:30:00 AM 2008,  Stacy D said…

  This post has been removed by the author.

   

• At Tue May 13, 06:23:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Stacy D: Genetic problems can be either "new mutations" or the result of a bad combination of genes carried by you and your partner. In most instances these genes are 'recessive' and they will not affect either of you. There are situations in which the cystic hygroma stabilizes and/or regresses, so the longer the 'little guy' fights, the better his chances. I sincerely wish you the best. Dr T

   

• At Thu May 15, 04:12:00 PM 2008,  Anonymous said…

  I came across this site by accident and I felt very compelled to post a comment. I was born with a cystic hygroma almost 32 years ago. The malformation is on my left hip and extends from just below my armpit to my hip bone. Thankfully, I have had no problems with it. If anything, it's really only been a cosmetic thing for me. It bothered me a lot while I was younger but I don't even think twice about it now. It has not kept me from doing anything in life. I gave birth to my first child in September and the scar tissue stretched just fine. I have run a marathon and had no issues with my hip even when running between 40-50 miles a week. I just want parents out there to know that it isn't the end of the world. I know every situation is different, but I have been very lucky not to have any problems with my hip at all. I hope reading this helps parents out there understand that the outcome of a cystic hygroma isn't always going to be bad. Good luck to everyone out there!

   

• At Fri May 16, 05:48:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous May 15: Thank you for sharing. There are MANY readers out there who will find and appreciate your comment. Kind regards,
  Dr T

   

• At Thu May 29, 01:58:00 PM 2008,  jk1 said…

  Hi Dr T,
  I am 37 years old and 12 weeks into my first pregnancy. I had my first ultrasound last week at 11 weeks and another ultrasound this week. According to the week 11 ultrasound, my baby has a swelling on the back of its neck (I do not know the exact measurement). The radiologist suggested cystic hygroma and a follow up ultrasound. During this week’s ultrasound, the radiologist was present and said the swelling/growth had disappeared. I have another ultrasound next week as they are having difficulty obtaining measurements. I have not yet had genetic testing. Can cystic hygroma spontaneously disappear in a week’s time or is it more likely that they either can’t see it or the swelling was something else? Your help is much appreciated.

   

• At Thu May 29, 05:36:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To jk1 May 29: What they saw was probably not a cystic hygroma. They probably confused the unfused amnion with the border for the baby's neck. Let me explain...
  
  The membrane that delineates the "bag of waters" is actually made up of two layers - the outer being the chorion and the inner being the amnion. Usually by late in first trimester, the amnion has fused with the chorion to form the single sac. It is very easy to misinterpret the unfused amnion as the skin of the baby's neck and back giving the appearance of a large cystic hygroma. Hopefully, that's where the confsion lies in your case. It would be very unusual for a large cystic hygroma to have resolved over the course of a week this early in the pregnacy. Best wishes and hope things turn out great! Dr T

   

• At Fri May 30, 10:27:00 PM 2008,  Anonymous said…

  Hi, my daughter (now 10 months) was born with a cystic hygroma on the right side of her neck. We didn't find out about it until she was examined at less than a day old by a pediatrician, before i was dismissed from the maternity ward. This surprised us; we had never heard of ch before. CH is all she seems to have (no chromosal abnormality, no syndrome). Also, although we were told to watch her breathing and eating as the CH may obstruct either or both, she thrived in every which way. She has always been slightly above 90th percentile in height, weight and head circumference. The only thing i had to do differently for her was nurse her so that her CH did not press on her neck, which meant the 'football hold' which always required that i have a bunch of pillows handy to prop her on. I had several US (at 7 weeks, 20 weeks, and 5 or so after 34 weeks for the Fetal non-stress test). No one told me about it. I'm assuming it was too small to detect? We are still learning a lot about her condition. Anyway, it got much bigger when she was around 4 months old, and remained the same size at 5 months. Recently, at the beginning of May, before she turned 10 months, her ENT surgeon, who we had been seeing regularly, said it decreased by more than half the size from January, and she has a lot of "loose skin," which she will be able to grow into. We take this, and what we observe, as an answer to prayer. From the literature our ENT surgeon has given us, it is reported that in 15% of ch cases, there is spontaneous disappearance of CH. However, our ENT surgeon says it is actually greater than that. I do wonder though, what is published on the percentage of these cases that go away on their own, only to reappear later? Although i believe she is healed (some type of draining going on?), i'm wondering if such a statistic has been documented before. We had been told that she would need an MRI around 1 year and will probably no more about what is going on internally with her then.

   

• At Tue Jun 03, 12:02:00 PM 2008,  Anonymous said…

  phi i was 13 wks pregnant when me and my husband were told at our 1first scan that our baby had fluied on the back of neck 2days later we had a another scan and it should that the baby had cystic hygroma in the lungs and all over body. the next day we had a another scan by this time i was 15wks we were told our baby was very sick. even to make it another day we found out the baby was a little girl she died inside my womb at 16wks. we have 3kids together what went wrong and what are the chances of this happening again. tracey

   

• At Wed Jun 04, 06:14:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous May 30: Since I do not care for babies after delivery, I really do not know what the natural history is for CH, especially, small ones that were not even detected prior to delivery. My sense is that spontaneous involution probably does occur more often than realized, but that there is always a chance for recurrence for whatever reason it is there to begin with. Thank you for sharing your story. I know it will bring hope to some readers in a similar situation. Best wishes. Dr T

   

• At Wed Jun 04, 06:20:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Tracey: Did you have chromosomal studies done on the baby? My bet is that the baby girl had Turner's syndrome (45 XO) and that actually has a very small chance of recurrence. It results from chromosomal nondisjunction during meiosis right before the egg is hatched just like in most cases of Down syndrome - only in this case the baby ends up with only one female X chromosome. Sorry for your loss and best wishes to you. Dr T

   

• At Mon Jun 09, 02:18:00 PM 2008,  Anonymous said…

  i`m 23 years old,,my first baby was borned at 23/2/2008 with large cystic hygroma at his neck,, the doctors made a surgery for him ater 2 days from birth for some of the cyst. & leave some of it under the nose,,,but now after 4 months he is still in hospital there are some problems in breathing,,he is on ventlator machine,,the doctors said that it may be (laryngomalacia) & other doctor said that there is still some cyst. on the larynx & become larger ,,,they said that he has reflux also & maid another surgery for him (for reflux & gastrotmy)..now they want to make another surgery for him in the larynx & put a tube that called i think(truckstomy),,,i don`t know what to do,,,& why he is facing such problems after the surgery?& if i agree on that surgery or not??

   

• At Sat Jun 14, 10:59:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous June 9: Because the baby has been on the ventilator for so long, they want to do a tracheostomy so that the baby can be placed on the ventilator through it neck rather than through its mouth. Please discuss the reasons for this with the doctors. They are in the best position to make these decisions for your baby and if you question their choices, you do have the right to request a "second opinion" first. Best wishes and sorry for all the problems your baby has had. Dr T

   

• At Mon Jun 16, 09:17:00 AM 2008,  Michelle Wells said…

  Michelle Wells . . .
  
  My daughter was diagnosed with a cystic hygroma at 15 months. Not one of the 5 sonogram reports mentioned her having a hygroma. Took us over a year to find a doctor that would preform surgery. Everything eventually worked out well. Found a wonderful specialist at Children's Hospital in Philly. Surgury was 4 hours long, 3 times longer than it should have. The cyst was infected, and much more involved in nerves than the MRI showed. The MRI was only 4 months old, and this thing had changed drastically. The doctor was able to remove 95%, the 5% left was on her vocal cord. The Dr. did not want to take the chance of damaging her vocal cord. Well, it has been three years since the surgery. The cyst was scarring down, not gone, maybe the size of a lima bean. She has had two flare ups since, and this recent one which is only two weeks ago is not going away. In fact, it seems to be growing back the exact original way it did. She is on her second anti-biotic, and feeling very uncomfortable. She even started running 102 fever after being on two antibiotics. Thank goodness that only lasted a couple of days. My concern now is, is this going to be a lifetime thing? In three years, it hasn't scarred down a bit. Honestly, what can I expect now? My hopes are down now. Any inspirations? Any positive feed back? Thanks much.

   

• At Mon Jun 16, 10:41:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  Hi Michelle: I know things have been rough, but you are in the best of hands at the Children's Hospital in Philadelphia. I know (and readily admit) when I am out of my league and in this case I am! Complications with cystic hygromas, especially when they are in the location that your child has hers, can be lifetime problems and then at times, they resolve spontaneously, and never recur. There may come a time when the dcotors feel the risk of complications from residual disease is worth the risk of vocal cord damage and try another operation. I pray it does not come down to that. Thank you for writing and I am so sorry I cannot offer more help. Best regards to you and yours. Dr T

   

• At Fri Jun 20, 03:45:00 AM 2008,  Whatever said…

  Hello
  
  I am in the UK and firstly can I say how great this site is, this is the most information I have been able to find on CH's!
  
  Our baby was diagnosed as having a CH of 4.3mm at my scan at 13+2. We decided to have a CVS, the results of which came back normal.
  
  I had a scan at 16+4 and the CH had totally gone, the heart looked normal from what they could see - 4 chambers and obviously a heartbeat. spine etc all looked OK. The midwife commented that if she hadn't had know the baby had had a CH she would have thought it was a perfectly normal baby.
  
  We have a detailed cardiac scan on Tuesday when I will be 21+3. As the CH had disappeared by 16+4, does this make our odds of no cardiac malformation any better?
  
  Are there many heart problems that can't be 'fixed' when the baby is born?
  
  Many thanks

   

• At Sat Jun 21, 07:11:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To whatever June 20: Ever day that goes by improves teh odds that your baby is going to be just fine. Most major congenital heart defects can be detected by ultrasound prior to delivery, especially if there is a good reson to look hard for one. The prognosis and tretament depends on what the defect is but, hopefully, you will not have to have that discussion with your doctor! Good luck for the rest of the pregnancy and thank you for sharing. Please let us know how things turn out! Dr T

   

• At Mon Jun 23, 05:42:00 AM 2008,  Michelle Wells said…

  Hello Dr. T
  
  We have had an exhausting week since I last wrote about my child's hygroma. Thank you for your positive words.
  
  I took my daughter back to CHOP on Friday, after two more visits at the pediatrician. We found out that my daughter, Lauren, had numerous inflamed lymphnodes surrounding the cyst in her neck. Lymphnodes act as a filter, is the understanding I got from the specialist. Although infection did get to the cyst, we were able to avoid it from blowing up. Due to us paying attention so much we were able to get her treated quickly, before that could happen. The specialist tells me it could be a couple of months before the lymphnodes go down. That's nerve racking. But being abreast of the situation, and paying attention to those little things, helped us actually prevent something that could of turned out to be a lot worse.
  Anyhow, Lauren will have to go back for more frequent check ups for the next few months. And will also have to have another MRI done.
  Are there people who live with these CHs all their lives?
  Thanks for the positive feedback.

   

• At Tue Jun 24, 12:59:00 PM 2008,  whatever said…

  Well we had the cardiac scan and all seems fine, we also found out we are having another boy!
  
  I have to go back in 8 weeks for another scan as the heart will be bigger so she will be able to see more little details, she basically said my 'padding'(fat!) was obstructing her view!:-0 I am not that big honestly!
  
  Dr T - There is still a thickening behind the neck, although no cysts any more, what could this mean??
  
  Thank you

   

• At Thu Jun 26, 10:08:00 AM 2008,  Anonymous said…

  Hi Doc,
  
  My wife just returned from her OBGYN apointment after having her first ultrasound yesterday. She is pregnant by 11+1 weeks and she was informed this morning that a thickening of the nuchal fold (0.67mm) had been detected dsurrounding the fetal neck and extending down the length of the spine. The findings, we were told, are highly suggestive of CH. We have read the qquestions on your web site with interest and obvious trepedation and anxiety. What is evident is that the 0.67mm thickening seems small in comparison with some of the other cases which expecting parent have brought to your attention. My wife will be going for a CVS tomorrow and I certainly understand that there is more to a prospective diagnosis/prognosis that simply the extent of the aforementioned measurement. However, is there anything positive we can take away at this point being that there appears to be such a vast difference between our baby's measurement and that of others?
  
  Many thanks - J.

   

• At Thu Jun 26, 06:31:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To whatever: Congratulations on the test resullts so far! If your baby really had a cystic hygroma earlier in the pregnancy, he may still have some redundant skin or soft tissue on the neck - or he could just be a little chubby! Good luck for the rest of the pregnancy! Dr T

   

• At Thu Jun 26, 06:33:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To J: If they think the baby has a cystic hygroma, then the measurement is really probably 6.7 mm, otherwise I am not sure why they would be concerned at all. I wish you and your wife the best. Dr T

   

• At Fri Jun 27, 03:45:00 AM 2008,  Anonymous said…

  Frrom J: I've looked at the one-page report that the imaging center provided to the OBGYN a thousnd times and the fact that the thickening is indicated as 0.67mm just doesn't make sense. Nor does the fact that the CRL was measured at 4.38mm. Based on what we've read thus far, the CRL should be 4.38cm or thereabouts at 11 weeks which means that the nuchal fold measurement is as you said, 6.7cm. I have no idea why it was indicated in mm vs cm - all very misleading. We're hoping for the best today with the additional testing. Thanks for your earlier reply. J

   

• At Sun Jun 29, 06:32:00 PM 2008,  marta said…

  Hello,
  
  Iam healthy 24 year old women with no family history of genetic disorders. My husband and I have a healthy son. We planned on a second child 7 months ago. I was crushed to find out at 13 weeks that the baby had a large cystic hygrome on its neck, we sadly ended the pregnancy. Since then we have been waiting on autopsy results from the genetics lab. We are very happy to be pregnant again. But are worried that this situation may repeat itsself. What are the chances this could happen agian? Our gentics councellor said the chances where slim as we are young, have one healthy child and have no history on either side of gentic issues.

   

• At Wed Jul 02, 11:23:00 AM 2008,  Anonymous said…

  Dear Dr. T,
  
  My baby was diagnosed with mild abdominal hydrops at 9 weeks. I returned at 11 weeks for an ultrasound and the hydrops was gone but cystic hygroma was present behind the neck. I had a CVS performed and am waiting for the results.
  
  Even if the CVS does not show chromosomal abnormalities, we don't know if we should continue with the pregnancy. From what I can gather, the risk of birth defects seems very very high. I'm afraid if I wait for a termination, my health and future fertility may become at risk due to possible complications with the procedure. Then again, I'm afraid termination now will impact health and future fertility. I hate being in this position - I just want to make the best choice for myself and our unborn child. Any insight on prognosis after a clear CVS would be great.

   

• At Thu Jul 03, 06:02:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Marta: Your chances of a recurrence depend on the reasons the last baby had its cystic hygroma. If the baby had a chromosomal abnormality that does not appear to be the result of a chromosomal rearrangement that you or your husband might carry, then the risk is small - basically your 'age alone' risk for having a baby with a chromosomal abnormality. If the baby has a major heart malformation, then the risk depends on the nature and heritability of that particular malformation. If the baby has a genetic/syndromic condition, then the risk depends on the heritability of that condition (which may range from 0 to 50%). My suggestion is to talk with a good geneticist or genetic counselor once you have gotten the final test results on the baby. Good luck to you both and thank you for reading. Dr T

   

• At Thu Jul 03, 06:06:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous July 2: In your situation, I would suggest making your decisions in steps - there is no rush right now. Once you have gotten back the results of the CVS, discuss these with your doctor or a genetic counselor and then explore your next options. Certainly you are at no risk at this time and, as other readers have recounted to us, sometimes patience has its positive payoffs. In truly bad situations, 'nature' will ofetn make the hard decisions for us as well. Best of luck and let us know what you find out. Dr T

   

• At Sat Jul 05, 12:56:00 AM 2008,  Anonymous said…

  Dr. T - I was searching hydrops and Potter's Syndrome and had forgotten about my post on April 28. You responded on May 1. Thank you. On June 18, I was 23 weeks pregnant and learned that our baby no longer had a heartbeat. We induced labor. We buried our baby next to his big brother, who passed away of Potter's Syndrome (bi-lateral renal agenesis). We are now seeking genetic counseling and are awaiting the genetic tests from our second baby. They are saying I could have a chromosonal rearrangement. They want to however, test my niece who has some learning disabilities to see if there is a rearrangement on my side of the family. Do you know why they can't test me to see if there is a chromosonal rearrangement I am carrying? Have you ever heard of anyone with a similar case to mine?

   

• At Sun Jul 06, 07:22:00 PM 2008,  Anonymous said…

  I am 29, Australian and living in Hong Kong and this is our first baby. My husband and I are both healthy and have no family history of genetic disorders. At 12 weeks we were diagnosed with a NT of 4mm, so we had a CVS done straight away. The rapid tests came back normal, but we went to get another opinion from a specialist (13 weeks) and at that point they found swelling on each side of the baby's neck indicating cystic hygromas. The swelling apparently was not there the week before. The cystic hygromas are about 4mm x 6mm and the NT had reduced to about 2mm.We went for another scan at 14 weeks and the doctor told us that she thinks the baby's internal organs appeared normal, the limbs measured in the normal range, the heart beat was strong and 4 chambers of the heart could be seen. At 15 weeks we had a 3D scan and the baby's face looked normal. The doctor is pretty sure that it does not have a cleft lip or palate. She did say that the cystic hygromas had not grown in size. They have not been able to tell us anything about what may have caused the Cystic Hygromas. We recently got all the chromosome tests back which were negative to any abnormality. We are upset and confused because the doctors keep telling us to wait until 16, 18 and 20 weeks for more detailed ultrasounds. We have had to try and find out all the medical implications for ourselves as the doctors aren't able to tell us anything. I have not heard or seen any evidence that this baby might be ok in the long run. I honestly dont feel as though I can carry this baby for 20 weeks only to find out that we should discontinue the pregnancy. What sort of problems can arise for the baby's health after its born with a cystic hygroma? What are the chances of the baby being healthy? We are mostly concerned any mental or physical disabilities. If the baby is born with cystic hygromas what sort of conditions may affect the baby during her life?

   

• At Mon Jul 07, 08:53:00 AM 2008,  Anonymous said…

  Dr T: Thanks for the response. We found out today through CVS testing that the baby has Down Syndrome. It wasn't an easy decision, but we decided that we will terminate the pregnancy. I'm just relieved to know the cause so we can move past this and try again.

   

• At Wed Jul 09, 11:12:00 AM 2008,  Anonymous said…

  Dear Dr. Trofatter,
  
  I would greatly appreciate your thoughts on the following situation. My wife, 23yo, gravida 3, para 1-0-1-1, is currently 22w3d pregnant. Initial ultrasound ~2wks ago detected nuchal thickening vs. some sort of lymph abnormality. The thickened area was seen near the back of the head with the most prominent thickening measuring 13X9mm. Normal nuchal thickness location for measurement was 8.5mm however slightly posterior to this area the max thickness is 15mm. Only able to visualize transverse views as fetus was lying on back. Also there was slight dilation of kidneys left(5mm) and right(3mm). Amino taken the following day, results show normal karotype -no trisomies. Follow up sonogram w/ specialist 6 days later showed the following: Intracranial anatomy demonstrates normal posterior fossa, normal lateral ventricles, and 5-6mm cystic areas in the nuchal fold seen -no frank nuchal edema. Nuchal lucency is greater than 2mm, lips are intact. Nasal bone identified, cardaic anatomy includes: four chamber heart, outflow tracts were visualized/ no pericardial effusions or diastolic dysfunction (HR 133). Cord consistent w/ 3 vessels. Fetal stomach is visualized. Femoral and humeral bones are within normal limits. Impressions: septated lymph gland but normal heart, bowel echogenic but not localized, kidneys ok. 8 days later another follow up sonogram done shows same results as above except: "persistent nuchal septations measure 4mm and 6mm...fetal stomach is visualized and bowel echoes resolving, unilateral pylectasis on left 4mm."
  
  The questions are, do you feel these nuchal cysts are cystic hygromas? And, based on size and slight resolution over 1 week, do you feel this is will continue to resolve and if so, could there be any long term affects of these cysts (or what are the long term effects)? Thank you in advance for your help.
  [also if you would like additional fetal measurements, I could provide those]
  
  John

   

• At Thu Jul 10, 02:44:00 AM 2008,  Anonymous said…

  Dear Dr. Trofatter
  
  I came by accident to this site and I would be very gratefull if you have a comment for me. I'm 15W pregnant not identical twins. The one was diagnosed 10mm fluid around its neck and some around its belly. The specialist advised us to terminate the pregnacy for that one by an injection.I couldn't do it and fortunately at the end my husband agrred. Three days ago my doctor said that the child has cystic hygroma, fluid in its lungs, which are small and quick heart beats.
  
  I don't want to to amnio. I prefer to leave everything to Got.
  
  Please could you tell me what are its chances?
  
  Thank you very much
  
  Andri

   

• At Fri Jul 11, 05:12:00 PM 2008,  Anonymous said…

  Hi All,
  
  My daughter is almost 4 years old and she was born with a 3mm cyst on her neck. The cyst was not detected during ultrasound and we didn't learn about CH after she was born. We spoke to 3 different specialists in the San Francisco Bay Area, all of them provided great information and options. We ended up going to Stanford with an injection treatment rather than a surgery when she was 2 months old. Now, she's one the most energitic kids I know. And she is the most precious thing in our lives.
  
  Dr. T,
  Are there any health issues with kids born with CH? The reason I ask is that for the past year, my daughter had 3 chest x-rays done when she was sick. All 3 x-rays showed there's a spot in her lungs (same location). Our doctor has advised to see a lung specialists and maybe have a CAT scan done. Just wondering if this could be CH related. Thanks.

   

• At Sat Jul 12, 06:09:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To John: I'm sorry, but I would have to see the images before I would have any idea about what is going on and even then, I couldn't make any promises. I would suggest screening your wife serologically for cytomegalovirus and Parvovirus B19 and consider Doppler flow studies on the baby's middle cerebral artery. I will let your doctors explain my rational for these procedures. Best of luck and please let me know what you find out. Dr T

   

• At Sat Jul 12, 06:13:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Andri: It is your choice. The baby has greater than 50% chance of a chromosomal abnormality and appears to be going into heart failure - you will probably not have to make any decisions with regard to that baby. He/she will probably not survive much longer. I am so sorry. There is a good chance the other baby will do just fine. Dr T

   

• At Sat Jul 12, 07:12:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous July 7: I am so sorry...Dr T

   

• At Mon Jul 14, 07:18:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous July 11: Cystic hygromas can occur in places other than the neck and so there is a possibility that that's what the lung mass is. I certainly would recommend findings out for sure and please let us know what you do! Dr T

   

• At Tue Jul 15, 11:06:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous July 5: I do not understand either why they would not check you for a chromosomal rearrangemnt if that is their concern???? Do you have any more information? Dr T

   

• At Tue Jul 15, 01:26:00 PM 2008,  Anonymous said…

  Hello. I had an appointment with my OB at 12w1d and she noticed some odd fluid in the back of the neck while doing a t/v u/s that measured about 5 mm. One week later, at 13w1d, I had my Ultra Screen scan at a fetal medicine specialist. The nuchal fold measured at 12 mm (apx) and the baby was diagnosed with a cystic hygroma. Both the specialist and my OBGYN feel as if Turner's is likely and I am having an amnio one week from today (at 14w1d). My question is --- if it is this big (with septations, but they didn't say anything about hydrops) is it possible to get an amnio result that is ok? If that is possible and the baby is fine chromasomally, what would cause this CH?
  
  Also, it seems that Turner Syndrome has nothing to do with age or anything --- more of a fluke. If that is the case, how is it that so many people have multiple pregnancies with various chromosomal issues? If this baby does have TS, am I at risk for something else similar (i.e. Downs, Tri 13, Tri 18 etc) in the future? I am devastated right now and awaiting my pending miscarriage/termination.
  
  Thank you.

   

• At Tue Jul 15, 04:09:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous July 15: First, I am so sorry. If this is not a chromosomal abnormality, the most likely diagnosis is a severe cardiac malformation. There is a chance it is a genetic/syndromic problem as well. The risk for recurrence depends on the cuase. If it is Turner's syndrome, you are a low risk for recurrence and your risk for another chromosomally abnormal baby is simply your 'age alone risk.' The only case in which that would not be so is if you (or your partner) carry a chromosomal rearrangement such as a balanced translocation. Again, I am so sorry. Please let us know what you find out. Many other readers will appreciate your sharing. Kind regards. Dr T

   

• At Wed Jul 16, 10:40:00 AM 2008,  Court said…

  Hi. My name is Courtney. I am 22 years old and 16 weeks pregnant. I went to the doctor yesterday and had an ultrasound. My sweet baby has fluid around its neck and a small about in its abdomen. The heartbeat is strong (150bpm) and everything else was normal. My doctor gave me no hope for caring this baby to term. I am devastated and feel like I have lost the best part of me. I go to a maternal-fetal specialist Friday for a definate diagnosis, but my doctor told me that it is probably cystic hygroma. He said when these are found in a baby at 16 weeks, the odds are stacked against you. I don't think I'm really looking for hope, just support. This is the worst thing that could have happened to my husband and I. We tried for this baby for a year, and now feel like we are falling apart. I am curious what the next move will be. Does anyone know?

   

• At Wed Jul 16, 11:21:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Court: I do not think we can write this baby off completely at this point. The next steps will be to offer you an amniocentesis to determine if the baby has a chromosomal abnormality and to look carefully at the baby's heart. The maternal-fetal medicine specialiost will discuss these issues with you. It is a little early, but evaluating the baby for anemia may also be indicated. All of these things can cause 'fetal hydrops' - the fluid accumulations you have described - and none is necessarily lethal. I wish you the best of luck and please let us know what you find out. Dr T

   

• At Wed Jul 16, 03:09:00 PM 2008,  Anonymous said…

  Hi Doc. I am anonymous from July 15 (5mm nuchal fold at 12 weeks which grew to a 12 mm cystic hygroma at 13 weeks 1 day). I am curious to know if there could be any link to my negative blood type. This is my first child, but I bled/spotted the first week I found out I was pregnant. I did not get a RhoGam shot until 7 days after I was bleeding and I've always been worried that I was "sensitized". I've read that Rh sensitization can cause hydrops, and since a cystic hygroma can be with hydrops, I thought maybe there was a link. Maybe I'm just searching too hard for answers. Anyway, thank you for your thoughts and your help.

   

• At Wed Jul 16, 05:19:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymouus July 16: Rh-sensitization can cause hydrops, but not in that time frame or this early in pregnancy. Dr T

   

• At Fri Jul 18, 06:57:00 AM 2008,  Rebecca said…

  I am 40 years young, have 3 beautiful daughters, and am 16 weeks pregnant. This baby has a different Father. We are told the baby has a 6.1 mm lateral to the neck.We had amnio yesterday. It sounds like even if the amnio comes back normal we may still have significant problems. I am having another sonogram in 3 weeks and am scheduled for the heart specialist ultrasound in 4 weeks. I obviously would like to have a decision sooner rather than later. We had decided if the amnio came back abnormal we will terminate. How long do we wait on this?
  Thank you,
  Rebecca

   

• At Fri Jul 18, 07:02:00 AM 2008,  Rebecca said…

  The heartbeat is between 147-153 each time and he did not say whether it was septated. I called and asked and it is not in the chart. Do the babies with hydrops usually have abnormal heartbeat readings?
  Rebecca

   

• At Fri Jul 18, 06:17:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Rebecca: If the baby has both the cystic hygroma and hydrops at this point, the prognosis is very poor. You should get the amnio results back in 10-14 days (unless you sent off FISH - in which case the results can be back in as littele as 72 hours), but with hydrops, the baby may not survive that long anyway. I am so sorry and I am sure this is hard on all of you. Please let us know what you find out. Dr T

   

• At Mon Jul 21, 07:43:00 PM 2008,  Court said…

  Dr. T, I am Courtney from July 16. When we had the ultrasound on Friday, the baby no longer had a heartbeat. Although it has been a very hard week, we are glad that termination was not a decision we had to make and that the baby went in its own time. I want to thank you for your encouragement and your help. I am so happy that I stumbled upon this website. Although I am not religious, I feel blessed to have known and loved this baby for as long as we did. Thank you again for your encouraging words and support. I hope that some of the other mothers will have a better report, and I will keep you all in my thoughts.

   

• At Wed Jul 23, 01:10:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  Hi Courtney: I am so sorry. Thank you for sharing with us in follow-up. We will be thinking of you as well. Kind regards,
  Dr T

   

• At Wed Jul 23, 05:16:00 PM 2008,  Anonymous said…

  I had an agonising day last Friday as at 12 weeks pregnant I discovered that my 1st baby has a cystic hygroma on the side of her neck. I had the CVS test & so far the outcome points to Turner Syndrome. I'm awaiting more results back as so far they are inconclusive. I have a few more days to wait for the results. Chances are high that we will loose our baby. I feel devastated but I'm glad I had the test. I hope this helps somebody else that is going through the same as we are. You are not alone!

   

• At Wed Jul 23, 06:32:00 PM 2008,  Anonymous said…

  Hi doc -- I've written a couple of times -- 12 mm cystic hygroma diagnosed at 13 weeks. They did an amnio at 14 w 1 d and today I received the FISH results and it is Turner Syndrome. Meeting with Fetal Medicine doctor tomorrow to find out what is next. Thanks so much for this website. It was so extremely informative over the past few weeks and it helped me tremendously. I hope that your schedule allows for you to continue this website for a long, long time - it is a gift to those of us going through such hard times. Thank you.

   

• At Fri Jul 25, 06:52:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous July 23 0516: I am so sorry. Thank you for letting us know. Dr T

   

• At Fri Jul 25, 06:53:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous July 23 0632: Sorry to hear that. Thank you for the kind words. Our thoughts will be with you. Dr T

   

• At Fri Jul 25, 10:31:00 PM 2008,  Anonymous said…

  Hello Dr. Trofatter this is John from July 9th. I wanted to get back to you with an update. Unfortunately the subsequent US showed slight increase in cyst size and the MFM doc said he felt that this was a hygroma. After two other opinions and before waiting further and risking full term complications we induced at 23wks. It was the most difficult moment of mine an my wife's life. We wish all those going through these challenging times hope and strength. Also, I hope you continue to provide this wonderful resource to everyone. It certainly helped knowing that we were not alone. Thank you.

   

• At Mon Jul 28, 04:39:00 AM 2008,  Dion said…

  Hi Doc,
  I am 36 and my wife is 37. We have two healthy daughters age 9 and 6. Last November, she had a miscarriage because the baby's heart stopped during week 9 - undetermined reasons. Now, she is into week 16, but after genetic scan, her doctor diagnosed a case of Non-Immune Hydrops secondary to Cystic Hygroma, 80% risk of chromosomal aberration, 50-60% chance going to be a Turners Syndrome (45 XO) and 20% chance of Downs syndrome. He also wrote that as the baby has a grossly abnormal Pre-Cardiac Load Index flow, there is 100% chance that it will end up as a Missed Abortion or a Stillbirth. His advise is to consider termination. Also, he suggested that no need to take fetal Karyotyping, as the outcome is poor even if the Karyotyping turns out normal.
  
  We are very saddened and are burdened by the decision wether to terminate the baby. Our question is:
  1. Is it really no chance at all?
  2. Should we take the Karyotyping still?
  3. What is her chance to have a normal pregnancy again? We were told the chance is just as good. Should we (the parents) take chromosom test beforehand?
  
  thanks doc

   

• At Mon Jul 28, 04:16:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Dion July 28: The prospects are not good, but right now your wife is at very little risk, so there is nothing wrong with letting nature take its course and holding off on the termination. Nothing is 100% in this business. There probably is not much sense doing the karyotype now, although if the baby does die, it may be difficult to get a result at that point. It depends on how badly you need to know. I agree with your doctor, there is a very good chance you two will be able to have a chromosomally normal baby in the future and I do not see the need to do chromosome studies on you and your wife based on what you have told me so far. Again, I am so sorry and I wish you both the best. Dr T

   

• At Mon Jul 28, 04:17:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Dion July 28: The prospects are not good, but right now your wife is at very little risk, so there is nothing wrong with letting nature take its course and holding off on the termination. Nothing is 100% in this business. There probably is not much sense doing the karyotype now, although if the baby does die, it may be difficult to get a result at that point. It depends on how badly you need to know. I agree with your doctor, there is a very good chance you two will be able to have a chromosomally normal baby in the future and I do not see the need to do chromosome studies on you and your wife based on what you have told me so far. Again, I am so sorry and I wish you both the best. Dr T

   

• At Mon Jul 28, 04:19:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Dion July 28: The prospects are not good, but right now your wife is at very little risk, so there is nothing wrong with letting nature take its course and holding off on the termination. Nothing is 100% in this business. There probably is not much sense doing the karyotype now, although if the baby does die, it may be difficult to get a result at that point. It depends on how badly you need to know. I agree with your doctor, there is a very good chance you two will be able to have a chromosomally normal baby in the future and I do not see the need to do chromosome studies on you and your wife based on what you have told me so far. Again, I am so sorry and I wish you both the best. Dr T

   

• At Mon Jul 28, 04:59:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To John: I am so sorry. Thanks for letting us know and give my best to your wife. Dr T

   

• At Sat Aug 02, 05:54:00 PM 2008,  michalah said…

  I am 22 and have been pregnant twice, the first was a miscarriage at 6 wks and the second was diagnosed with cystic hygroma and hydrops at 19 wks, and died in at 19 wks. We did not have any testing or an autopsy done on the baby. My husband and I both are healthy, and I do not know of any genetic issues in our families, I do have one cousin with spina biffida, but that is it. My question is: what type of testing is available for my husband and I to screen for genetic issues? Is it very accurate? Is this something I should spend my time and money on before trying again?

   

• At Wed Aug 06, 11:12:00 AM 2008,  Annie said…

  dear doctor,
  I am 32, 12+ wks pregnant with my 5th baby. On my 10wk booking scan I was told the nuchal fold was too thick (3.2mm) and recalled for a nuchal fold scan. I had this yesterday and was told the fluid has now increased to 6.4mm, and that there is a cystic hygroma, and fluid around the head. Anatomically the baby looked fine otherwise, all limbs present and correct and visible nasal bone. I was told that the baby has a 1 in 4 chance of having downs syndrome an so am having a CVS done in a few days.
  Should the results of this come back clear I was told we're still not out of the woods as there could be a genetic fault instead. (we were also told unoptimistically that just because we may get a downs diagnosis does not mean the baby wouldn't also have other probs!) My view is that I can't comprehend how we can have had 4 perfectly healthy babies already if it's a genetic problem? Surely it's more likely to be chromosomal? The doctor at the hospital more or less advised a termination, we were led to believe on asking that there was virtually no chance of our baby being "normal". It was also stressed to us that lots of things could be wrong that we would have no idea of what or how severe until I eventually gave birth. I have read elsewhere of babies with higher nuchal results making it healthily but want to be realistic. If I knew for sure what we were facing I could be so much better prepared to make decisions, but everything seems to vague. Any clarification would be gratefully received. I live in the UK if that makes any difference.
  Thank you, Annie

   

• At Thu Aug 07, 06:55:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To micalah: At this point I would not recommend you have any chromosomal testing done unless you lost another baby and documenetd that the baby had a chromosomal problem that could have been inherited from one of you. As for other "genetic testing", in the absence of any family history, that is NOT practical at this time. There are THOUSANDS of different things you could be tested for and it is unlikely that any caused either of your pregnancy losses. good luck and thanks for reading! Dr T

   

• At Thu Aug 07, 07:02:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Annie: The first step is the CVS. There is greater than a 50% chance that the baby has a chromosomal abnormality and not a "genetic problem" as you point out, unless this is a spontaneous 'new mutation' and a syndromic condition. If the chromosome sudies are normal, this becomes more likely or the baby could have a congenital heart defect or other condition causing lymphatic obstruction. It sounds like you are in good hands, so make sure to ask all your questions! Please let us know what you find out. Dr T

   

• At Thu Aug 07, 07:10:00 PM 2008,  Anonymous said…

  Dear Doctor,
  
  I have a healthy 16 month little girl and since her first birthday in March we have noticed a lump growing on her left side in the waist away. Her doctor did not seemed worried at her check up so we just kept on eye on it. On June 30th I told my husband that it looked bigger so we went back to the doctor again. She called out for a ultra sound and then she asked for us to see a dermatolisgist and he could not see us until February of 2009. We went to a local derm/doctor here and he read the ultra sound and said she has cystic hygroma, but all i see are cases on the neck and none on the trunk of the body. Addison's is now 7mm and now we are back to the waiting game of waiting to here back about getting and MRI. We can't find out any where or from any one how serious it is and hope you could help.
  Thank you,
  Joanna

   

• At Sat Aug 09, 06:15:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Joanna: Where do you live that you have to wait for a doctor until next year? Regardless, cystic hygromas can occur in lots of different places. I just hope that's all it is. I am sorry I cannot be of more help, but please let us know what you find out. You might want to search on the web for 'cystic hygroma' to learn more about them so that when you finally do get to see the doctor, you can get all of your questions answered! Good luck...Dr T

   

• At Mon Aug 11, 11:30:00 PM 2008,  Anonymous said…

  Dr T,
  I posted a message for you on July 6th. My baby girl had cystic hygromas on both sides of her neck.We went to see our fetal specialist at 17 weeks and he told us that even though the baby looked normal and the chromosome tests came back negative, that cystic hygromas are a signal or red flag that something is probably wrong with the baby. After hearing that this was never going to be a normal pregnancy and considering the chances of there being something wrong with out little girl we made the painful decision to discontinue the pregnancy. When the baby was born, the doctors told us that she did have swelling of the neck, but that further tests would probably not be able to tell us anything. My problem now is that I am terrfied that this is going to happen again. I was desperate to have my baby and feel as though I couldn't do through this again. What are the chances that this will happen again? Is there anything that I can do before we try to get pregnant again? Thankyou for your website. It really was the only place that we got any understandable information about cystic hygromas.

   

• At Tue Aug 12, 04:13:00 AM 2008,  Annie said…

  Hello again doctor.
  Well, we got the results back from the CVS today, and I'm pleased to say that they came back clear for downs/edwards/turners/patau syndromes which has been a huge relief! I realise we're far from out of the woods yet as as the doctor put it "well, something must be causing the large amount of fluid", but for now at least I fel better knowing there are some things that aren't causing it. The next step is another scan on sept 1st to check the fluid levels and predominently the heart function to see how things are looking, but for the first time in 3wks at least we feel a bit more hopeful! We'd been told there was a 60% chance of ii being a chromosomal problem and it isn't, so we've beaten the odds once, we could do it again. Our fingers are permanently crossed. Oh, and we found out it's another boy, which will be our fourth! Thank you for your support so far, I will keep you informed as I I know how invaluable other peoples experiences can be in situations like this

   

• At Sat Aug 16, 05:42:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Aug 11: Unless the baby had a heritable genetic condition, the likelihood is VERY low this will happen again. I am so sorry for how things turned out. If they do discover something specifically wrong with the baby, please let us know. I learn from our readers too. Kind regards, Dr T

   

• At Sat Aug 16, 05:43:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Annie: Congratulations - just keep taking things one step at a time. Keep us posted and best wishes! Dr T

   

• At Sun Aug 17, 09:24:00 AM 2008,  Kristi said…

  dear dr. t,
  
  i just wanted to let you know that i gave birth to a healthy baby girl on august 12th. the ch went away at 37 weeks and she was born with no sign of it. i can't tell you how relived we are. now i can say i have gone through this nightmare twice with exactly the same outcome. thank you for all the support you gave me. you are the only person who i've found that can give some idea as to why or how this happened.
  
  thanks again.
  kristi

   

• At Sat Aug 23, 11:37:00 PM 2008,  Court said…

  Hi. My name is Courtney, and I posted first on July 16th. We just got the chromosomal tests back on the baby we lost. He had Down's Syndrome. I just turned 23 a couple of weeks back, but I know that DS can affect anyone at any age. This was our first child, and I am scared to try again after losing this baby. They said that the DS probably caused the heart problems which later led to the hydrops. (The cystic hygroma was not seen on the final ultrasound.) I am having genetic testing done Tuesday. I am curious if you know about what my odds are of having another baby with DS. Neither one of us have ever known anyone in our families to have a baby with DS, and I feel like we're running scared now. We're in a panic. Would you recommend that we try to get pregnant again? I know there are no guarantees but I need to know if the odds are in our favor or not.
  Thank you,
  Court

   

• At Mon Aug 25, 09:43:00 AM 2008,  Anonymous said…

  Dear Dr. T- Thank you for your site. I have been looking for someone who was knowledgeable on this subject of whom I could ask some questions. I am 32 years old and am 21 weeks pregnant with my second child. My first child is a healthy two-year-old boy. My second child, a girl, was diagnosed with cystic hygroma at 16 weeks. It measured 2mm. My nuchal testing at 12 weeks came back in the "normal" range (around 1 in 500) and the nuchal skin was "very thin". After the cystic hygroma diagnosis, my doctor recommended we have what he referred to as "part II" of the nuchal screening-- it was additional bloodwork. That bloodwork increased my chances (I'm assuming it's referring to my chances that the baby has chromosomal abnormalities) to 1 in 301, which my doctor still said was in the "normal" range. Since he knew we would not consider termination, my doctor recommended that we wait until our ultrasound at 20 weeks to see if the cystic hygroma had disappeared before we decided if we wanted to have an amnio performed. We had our 20 week anatomy ultrasound performed last week and the CH was gone. They also said that everything else about the baby looked healthy and "normal." My doctor said that given that my blood screenings have been in the normal range, the CH is gone and the baby looked healthy during the 20 week ultrasound, he doesn't think we need to have an amnio performed. He has asked us to schedule an echocardiogram for the baby to rule out any heart problems and we are having that done in the next 2 weeks. Given the above, my questions are these: Do you think we should have the amnio performed? Do you think despite my "normal" bloodwork and 20 week ultrasound there is still a significant chance of chromosomal abnormalities? My doctor said he'll perform the amnio if we want it, but that he really thinks we don't need it and the cystic hygroma was probably just an anomaly. I just don't have a sense of what my current risk of having a child with chromosomal abnormalities is. Is there a percentage you could give me, or could you tell me where to find the "FASTER" study if that might give me a sense of the chances (given the facts above)? Thanks so much.
  -Alice

   

• At Mon Aug 25, 06:07:00 PM 2008,  Megan said…

  At 12 weeks my baby was diagnosed with a septated cystic hygroma measuring 6mm. The amnio came back normal, the fetal echo showed a perfect heart and there were no structural abnormalities. The CH resolved around 27 weeks. My daughter was born on March 3rd in perfect health. She has a little excess skin on the back of her neck, but that's all thus far. I have read that most cystic hygromas show by the age of 2. Even though my daughter's CH resolved, I still have worries that it will come back....is that possible??

   

• At Tue Aug 26, 10:32:00 AM 2008,  Annie said…

  I just wanted to say a big "thank you" to KRISTI for sharing her story. To hear that you've been given the same depressing diagnosis in two pregnancies and that both went on to deliver healthy happy babies gives hope to all of us who find themselves in this situation. Thank you ever so much for helping myself at least to feel more positive about things.

   

• At Tue Aug 26, 05:32:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  Alice: Are your doctors sure they saw a cystic hygroma at 16 weeks. That measurement of 2 mm is VERY low and well within the normal range. The choice regarding an amnio is entirely yours and that decision depends on your need to know before the baby is born. If you really would not consider termination, the baby is normally grown, the "CH" is resolved, and no other abnormalities are found, I would have a hard time recommending an amnio to you, but also would do it if you wanted me to. Remember, if you are one of those few people who loses a baby after an amnio, in your circumstances, odds are it would be a normal baby you lose. Best wishes and please let us know how things turn out. Dr T

   

• At Tue Aug 26, 05:44:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Courtney: At age 23, your age alone risk for having a baby with a chromosomal abnormality is about 1 in 1250 for Down syndrome and 1 in 476 for any chromosomal abnormality. Some genetic counselors will tell you that you MAY be at higher risk having previously had a baby with Down syndrome, but it is hard to put a number on that. Personally, I would suggest you go with the age alone risks I have quoted you above. Odds are in your favor the next baby will be normal. You can get some reassurance of that in early pregnancy by having combined first trimester risk assessment performed. The genetic counselor can talk with you about that. Dr T

   

• At Wed Aug 27, 05:53:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  Kristi: Congratulations and thank you for letting me know. Also thank you so much for the kind words! Kind regards to you and your family. Dr T

   

• At Wed Aug 27, 06:16:00 PM 2008,  Rebecca said…

  We had the amnio and the test came back positive for Downs. We terminated the prenancy at 18 weeks. This one wasn't meant for us and I may try again. I learned alot and it is just a fluke that it happened. If I for a second thought it would happen again, I wouldn't put myself through it. I feel great now. I realize I was so stressed for weeks about the Cystic Hygroma and waiting for the amnio results that I felt terrible. There was no joy in the pregancy once the Hygroma was diagnosed. I am fortunate to have 3 daughters,great family and amazing man in my life. I am counting my blessings here on earth.

   

• At Sat Aug 30, 02:18:00 PM 2008,  whatever said…

  Hi I'm 'whatever' from 24 June.
  
  We had another cardiac scan last week (30 weeks) and the heart looks absolutlely fine, the only thing they can't rule out is tiny undetectable hole in the hearts, which the consultant said could heal themselves anyway.
  
  However, even after all these tests (cardiac scans, CVS etc)that have come back OK my husband is convinced that our baby will be mentally or physically disabled in some way because of having had a CH. Is there any links with CH and mental or physical disability other than chromosome disorders?
  
  Thank you once again.

   

• At Mon Sep 01, 11:28:00 AM 2008,  Annie said…

  hello there. Just thought I would let everyone know about the latest development in my pregnancy. I went for another scan today (16 wks) and my consultant was "amazed" to see that all the fluid she had been so worried about at my 10wk and 12wk scans had all disapeared. She spent forever studying the baby from every which angle and had to conclude that everything looked perfectly how it should at this stage! I couldn't believe my ears! I asked her specifically "if I came to you today and you'd never met me before, what would you tell me from this scan?" and she had to admit "that your baby looks perfectly normal and healthy as far as I can tell". My husband and I are absolutely shocked, but over the moon having spent the last 6 wks worrying ourselves sick. I'm booked for a heart echo in another 6 wks time as a precautionary measure "just in case" but have been told now that I should go off and enjoy the rest of my pregnancy now like any other. It's such a relief, and I just wanted to offer hope to anyone else out there who may be in the same situation. I'll continue to keep you posted

   

• At Tue Sep 02, 09:35:00 AM 2008,  emw said…

  I have a 5 week old baby boy who was born with what his pediatrician told me was a cystic hygroma near the occipital area on the back of his head (more toward the left side). I have been trying to read up on this condition, but I feel lost. One question I have is why it was not diagnosed during any of my prenatal ultrasounds. We have consulted a plastic surgeon who wants to wait until he is 6 months old to remove it. Will it come back? Should we (my baby, husband and myself) have any further testing done? Any information would be greatly appreciated. Thank you in advance!

   

• At Tue Sep 02, 09:40:00 AM 2008,  emw said…

  I have a beautiful 5 week old baby boy who was born with a cystic hygroma on the back of his head (occipital area). I have tried researching information on this condition but still feel lost. I am feeled with different emotions and questions. One question I have is why this was not diagnosed during my prenatal ultrasounds. Another is do my son, my husband or myself need any further testing done? My son's pediatrican referred us to a plastic surgeon who recommended us wait until he is 6 months old before removal. Will the mass continue to grow in size? It appears to be growing at this time. Will it come back after it is removed? Did I do something that caused this? Will my future children have this? Any information would be greatly apprecaited. Thank you in advance!

   

• At Tue Sep 02, 04:20:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To emw: Are they sure this is a cystic hygroma or could it be an encephalocele? If it is a CH, it may come back after it is removed or it may reappear in the margins of the incision. You probably did NOTHING to cause this and it is unlikely to recur. But, all your questions are excellent and you should ask your doctor the same things you have asked me. If he/she cannot answer them, then ask if there is someone you might go to for a 'second opinion.' Also, to better answer the questions related to the risk of recurrence, ask to speak with a geneticist. I wish you luck. If nothing else is wrong with your beautiful baby, he should do just fine in the long run. Let us know how things turn out. Dr T

   

• At Tue Sep 02, 05:06:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Rebecca Aug 27: I am sorry and thank you for sharing your story with us. Kind regards and best wishes for the future. Dr T

   

• At Tue Sep 02, 05:08:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To whatever: It all depends on what caused the cystic hygroma to be there in the first place. If the baby has no chromosomal abnormality or genetic condition, he/she should do just fine developmentally and physically in the end. Your husband needs to start looking at the cup as half FULL rather than half empty! Good luck and let us know the final outcome! Dr T

   

• At Tue Sep 02, 05:09:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Annie: Thanks again for sharing and we will all be waiting to hear the "rest of the story"! Dr T

   

• At Wed Sep 03, 12:02:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Megan: Yes, it is possible that it could return for whatever unnown reasons it was there to begin with. However, maybe she just had some lymphatic obstruction that has become overcome and she will never again have a problem! I am glad that things have turned out so well so far. thanks for writing and best wishes. Dr T

   

• At Wed Sep 03, 03:42:00 PM 2008,  Jackie said…

  Hi Dr. T.,
  
  I first wrote a couple weeks ago. Finally had my amnio yesterday (a long 3 weeks after intial CH finding) and we were told the CH continued to grow. The baby now has hydrops and will pass any day. Now that I'm 4 months, I will have to endure labor and deliver the baby. They are scheduling a "therapeutic termination" asap. Apparently, there was more hygroma than amniotic fluid. Seeing the CH on screen, and how large it was, really put things in perspective for me. They only had a very small area where the doctor could draw fluid from as the hygroma was so large. He had to keep trying from different angles, so that was a bit painful but worth it in the long run. The doctor was very cut and dry - which we appreciated.
  
  I was able to obtain an original copy of the initial finding and the doctor reported several septations and it was considered "very large". We are grateful that our decision has been made for us, and we wouldn't be wrestling with the choice of ending our babies life due to a chromosomal issue. My prayer was that the baby would make it to the amnio so we could have the test and subsequently find out if the baby has Turner's or another chromosomal abnormality. I'm now hoping there is no suffering for our baby, and that he/she will go peacefully, with no pain.
  
  My question(s) for you are the following: 1) when they administer the drugs for pain to ease labor, the baby will receive them and easy her pain as well? It seemed to me they will be giving me a higher amount of drugs than a regular delivery as they are focusing on the mother, opposed to delivering a healthy baby as the baby will possibly be gone already and/or will not survive. 2.) what are the risks of having another baby with a CH? This was my 1st pregnancy and I'm a healthy, 26 year old. We had genetic counseling prior to the amnio, and with the information they received, everyone kept telling us there was nothing we did wrong, this was the result of chance.
  
  Thank you for your attention to this board. It helped me cope through the past couple of weeks and I believe it has helped many other women dealing with the pain of their babies suffering from CH's. I'll post the amnio results once I receive them.
  
  Jackie

   

• At Sat Sep 20, 10:37:00 PM 2008,  arlafountain said…

  I hope I might be able to get some more answers through this site. I am 28 and pregnant for the first time. I will be 19 weeks in two days. My first ultrasound was at 12 weeks. At that time, the doctor found a cystic hygroma. As well, her heart rate was recorded at 63 bpm. At the following appointment, her heart rate was up between 80-90 bpm. It was recommended that we do the CVS test. During the ultrasound before the test, her heart rate was up to 120 bpm, but my significant other noticed an irregularity in the heartbeat. The tech, of course, couldn’t say much about it. During my next appointment with my doctor, I asked her about the baby’s heart and she said we would find out more about it around now if nothing had improved. The CVS test came back negative for chromosomal abnormalities and I was over the moon, thinking it was my biggest obstacle. Now, at my last appointment this past Friday, my doctor was still concerned. The CH has persisted, her heart rate is back into the 80’s to 90’s and the irregularity is apparent. An echo was ordered and I have to wait until the 29th to have it done. In the meantime, I have some questions. The biggest, of course, is whether or not my daughter has a chance. Secondly, is there ANYTHING I can do to improve the outcome? This pregnancy was unexpected, as I have had issues with reoccurring endometriosis. Could that have anything to do with the problems she now has? Also, I was unaware of the pregnancy and drank. I may have also taken a quarter of a .25 ml. of Xanax before finding out (I’m not sure if it was before or after conception.) What are the chances that any of this had to do with it? Is there any way that this can turn out normally? Should I be hanging on to the hope that I have? I suppose if it were any one of these things, I would feel able to cope with the situation, but my girl having all of these issues is what worries me. Any answers you can give me regarding what I know so far would be vastly appreciated. Thank you…

   

• At Tue Sep 23, 05:58:00 PM 2008,  Anonymous said…

  Hi, I am 33 and 13 weeks along and we were just diagnosed with a cystic hygroma that was 8mm. My husband and I are not sure if should have further tests done. We just don't have a good feeling with our odds, since it is so large. Would you suggest that we do further testing?
  I just want to say that this website has been so helpful and you are so great to get back to each person that writes in.

   

• At Tue Sep 23, 06:06:00 PM 2008,  Anonymous said…

  I am 33 and 13 weeks along and we were just diagnosed with a cystic hygroma of 8mm. My husband and I are not sure if we should do more testing. We don't feel very good about our odds, since it was so large. Would you suggest that we have further testing done?
  I would just like to say that this website has been very helpful, it is so wonderful that you get back to each person.

   

• At Sun Sep 28, 08:32:00 AM 2008,  Kym-Berly said…

  My daughter Rosy is now nearly three years old. She has CH OR LM on her Right Flank and Right Axilla.Or in the armpit and on her ribs. It was discovered at 7 months of age but she had developed it fetaly also. Anyone who tells you , that you dont have a chance is not a specialist worth talking to.
  
  You have a very good "chance" that you will have a healthy happy child. You need to find more Blogs like this one where you will meet hundreads of parents, teens, and CH Suferers. They lead full happy lives. They have children, school and soccer practice. They are normal.
  
  Once you make it to 12 weeks, Your chances double. Once you make it past 24 weeks the chances double again. Once you make it to 28 weeks your child will make it. If you can carry to 32 weeks you will avoid other premature defects. Get a second opinion. Dr.s dont see this often and it makes them pessimistic.

   

• At Sun Sep 28, 06:33:00 PM 2008,  hannahselina said…

  I'm 40 years old and fifteen weeks pregnant.My baby was diagnosed with cystic hygroma. I was recommended to a specialist who confirmed it.He also noted an abnormal heart, abnormalities in the stomach and now ascites. I have not done the amnio since I'm not comfortable with this procedure. Can you offer any opinion whatsover on this situation?

   

• At Tue Sep 30, 07:03:00 AM 2008,  Cystic_Hygroma_Survivor said…

  Thank you Kym-Berly! Well said! I am an adult living 37 wonderful years with Cystic Hygroma also known by the more current term, Lymphatic Malfomation. Despite ongoing medical management I have lived a typical fulfilling life where I have a career, I am married and have 4 wonderful healthy CH free children. I am chromosomally normal and of the 130+ other families I am in contact with we only have 5 who have chromosomal disorders (Noonan's, Turner's and Down's). In that same group we have 20 families who have suffered a loss to CH and the remaining 110 families are children, teens and adult living typical lives with Cystic Hygroma. A cystic hygroma diagnosis is not an automatic death sentence. There is a lot of LIFE with Cystic Hygroma...I know PERSONALLY. There are also, a ton of resources out there and support through places like my-space, yahoo and other's if you search the terms Cystic Hygroma and Lymphatic Malfomation you should find them. In addition to the advice of doctors I believe all families should seek support groups for families who are living daily with the condition. These, in my opinion, are the real experts.
  
  Conact me anytime if you have questions about what it's like to live with Cystic Hygroma AKA Lymphatic Malformation. I am an active duty military spouse and can help you navigate through Tricare, as well.

   

• At Fri Oct 03, 10:41:00 AM 2008,  Annie said…

  Hello, just giving a quick update on my progress (baby was initially diagnosed at 10wks with 3.2mm CH, growing to 6.4mm at 12wks-all gone by 16wks) Had my 20wk anatomy scan yesterday and all was fine! Am due my heart echo in 2 weeks time, but they really don't expect to find anything wrong now at this stage now everything else looks so positively "normal". I'm sure you can all imagine the relief I'm feeling right now, I'm starting to finally relax and enjoy the pregnancy a bit now, especially as baby is wriggling about a lot. I'll post my echo results up, I've still got my fingers crossed just in case, but so far so good for now.

   

• At Fri Oct 03, 11:41:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Jackie Sept 3: I am so sorry. I also apologize for not getting back to you sooner, but the folks from Healthline just forwarded your comment to me this week. I know things are now all over, but the pain medication should have eased any discomfort thte baby might have experienced as well. Fortunately, babies cannot feel too much that early anyway. Your chance of recurrence depends on the reason for the CH to begin with. If this was a case of Turner's syndrome, your risk is low. You may well have found out the answer to that by now as well. Please let us know what you do and my sincere condolences. Dr T

   

• At Fri Oct 03, 11:49:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To arlafountain: I am just now getting back to you because there was a delay in getting your comment from Healthline. I would wager your baby has either a major congenital heart defect or an abnormality of the conducting system leading to the bradyarrhythmia - so what did they find? I would recommend screening you for the autoantibodies anti-Ro (SS-A) and anti-La (SS-B). I doubt sincerely that either the Xanax or the alcohol in early pregnancy had anything to do with this. If you do have the autoantibodies I mentioned, and the baby does not have major structural abnormalities of the heart, or has not developed a complete heart block, corticosteroids may (or may not) be of some benefit. I am anxious to know what your doctors found out so best wishes and please get back in touch! Dr T

   

• At Fri Oct 03, 11:52:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymos Sept 23: With that wide an NT measurement, your baby has more than a 50% chance of having a chromosomal abnormality. Your choices are to have an invasive diagnostic test done, simply wait on nature to take its course (one way or the other), or terminate the pregnancy. I cannot help you make that decision, but not all cystic hygromas are associated with chromosomal abnormalities, so one of the first two choices may be your best options. Good luck and let us know how things turn out. Dr T

   

• At Fri Oct 03, 11:54:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To kym-berly: Thank you SO MUCH for sharing your story. Many readers will be reassured to hear of your experience. Dr T

   

• At Fri Oct 03, 11:58:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  to hannahselina: The amnio might be helpful. If the baby has a major heart abnormality as a cause of the cystic hygroma and is chromosomally normal, the Pediatric Cardiologists and Surgeons may recommend a very different plan of management following delivery than if the baby had a chromosomal abnormality - particularly if that is one which is usually lethal. And, if the latter is the case, you might elect to spend as much time with the baby as possible rather than subjecting the baby to intervention that is doomed to fail anyway. Kind regards, Dr T

   

• At Fri Oct 03, 12:00:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To CH survivor: Thank you too for sharing your story and comments. Concerned readers will get much more out of hearing such things from you than from me! Thank you so much for reading and best wishes! Dr T

   

• At Mon Oct 06, 07:32:00 PM 2008,  Jackie said…

  Dear Dr T,
  
  We received the amnio results and our little girl had Turners. Our genetic counselor said it was good we know what caused the cystic hygroma (Turners) and the chance of recurrance is small. At my follow up appt, my dr said the termination was the for the best as the baby was going to pass, regardless, due to hydrops.
  
  Thank you again for your attention to this board. It has helped me, and still does. Tomorrow is the one month anniversary of the delivery of our baby. Its a struggle as I type this, but this whole experience has shown me what a blessing life is. I wish everyone well and you all are in my prayers. Please try to remain positive, regardless of your results. My best to all ...
  
  Jackie

   

• At Tue Oct 07, 06:57:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Annie: Thanks for the update. Finger crossed for the rest of the pregnancy. Let us know how things finally turn out. Good to hear from you again. Dr T

   

• At Wed Oct 08, 05:26:00 AM 2008,  rkr201 said…

  Dr T,
  I am 42 and 13 weeks along. I had a healthy baby boy 16 years ago and no known genetic disorders in my husband's and my families. My initial maternal serum screen results on 16Sep were HCG .50 and PAPP-A .42, indicating a higher risk for Downs according to genetic counselor. During the ultrasound on 30 Sep, the doctor diagnosed cystic hygroma-NT 6.9mm, Nasal Bone 1.3mm. Fetal HR: 178 bpm. I had the CVS on 3 Oct. Initial FISH results on 6 Oct suggest female fetus with trisomy for chromosome 18 (Edward's Syndrome). Report stated that the cells exhibited three hybridization singals for chromosome 18 and two hybridization signals for chromosomes X, 13, and 21. What exactly does that mean? I understand that babies with Edwards have a minimal chance of survival to birth and for those who make it to birth, a minimal chance of survival after birth. They expect the full test results on 10 Oct. Will there be any new information with the full results? What should I expect to happen? We are scheduled for another ultrasound on 29 Oct to see if there are any strutural or congenital abnormalities. I do not think I would like a D&C , but I am afraid for the outcome if I carry to term knowing the odds may be stacked up against our baby girl. Pls help.

   

• At Tue Oct 14, 09:15:00 PM 2008,  Wally said…

  To all;
  I wanted to extend my thanks to all of you for sharing your stories and for Dr T open advice. We are currently into our 5th pregenacy. Our first was a wonderful blessing and "normal" birth of our son in 2005. Other attempts to have more childern have been painful. Unkown reasons for miscarriages during the 15th, 16th, and 10th weeks.
  Current pregancy were are planning on weekly ultrasounds to see how things go. On 9/11, 12 weeks CH was found. We continue with weekly ultrasounds and have decline any type of other testing. We are letting nature and God determine the path for us. Ultrasounds remain unchanged; heartbeat is still there (160) along with the CH Growth. Next week we have another ultrasound with different doctor; not sure if a second opnion will provide much but it will provide us with of feeling of doing something.
  
  Again my thanks and prayers to all of you. My attendence in the forum will continue. God Bless.

   

• At Fri Oct 17, 10:50:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Jackie Oct 6: I am so sorry. Thank you for letting us know. Kind regards, Dr T

   

• At Fri Oct 17, 11:05:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Wally: Thank you for writing and I am sorry for your plight. Even if you do not want testing on the baby, have you and your spouse had chromosomal studies done. If one of you carries a balancede translocation, it might explain the poor OB history. We will all be thinking of you and let us know if we can help! Regards, Dr T

   

• At Wed Oct 22, 07:29:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To rkr: Your initial screen with the low hCG and PAPP-A put you at higher riks for trisomy 18 than Down syndrome. The test results (with 3 signals for chromosome 18) indicate that your baby has that diagnosis (the other chromosomal markers were all normal) and there is a very high liklihood the final fetal chromosome result will be any different. Trisomy 18 is associated with profound mental retardation and usually multiple fetal abnormalities. Many babies do not survive the pregnancy and of those which do, most will succumb shortly after birth. Less than 1% will survive their first year of life. I am so sorry and my heart goes out to you. Dr T

   

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