Amniocentesis is Not Without Risk

129 Comments:

• At Tue Jul 22, 07:48:00 AM 2008,  Lorac said…

  I had an amnio last September. Our baby boy was born in November and lived for an hour and a half. If we hadn't had the amnio we would not have known he had Trisomy 13/Patau Syndrome and that he would not survive. Before the amnio we already knew something was wrong and we had the amnio to determine the level of the condition. We knew the risks but had to know. We had a chance to then prepare our families and friends and our little boy (aged 4), to make important decisions about burial, visitors. It gave us a chance to make decisions together. It is not a nice situation for any parent to be in but take this advice, listen to your heart, go with your heart, make the decision together and be happy that as parents you have done all you can for the little one, good luck.

   

• At Tue Jul 22, 07:49:00 AM 2008,  Lorac said…

  I had an amnio last September. Our baby boy was born in November and lived for an hour and a half. If we hadn't had the amnio we would not have known he had Trisomy 13/Patau Syndrome and that he would not survive. Before the amnio we already knew something was wrong and we had the amnio to determine the level of the condition. We knew the risks but had to know. We had a chance to then prepare our families and friends and our little boy (aged 4), to make important decisions about burial, visitors. It gave us a chance to make decisions together. It is not a nice situation for any parent to be in but take this advice, listen to your heart, go with your heart, make the decision together and be happy that as parents you have done all you can for the little one, good luck.

   

• At Wed Jul 23, 06:00:00 AM 2008,  Worried said…

  Hi,
  
  First, this is a great blog. I cannot begin to describe the public service you are providing to quite frankly, a lot of pretty scared people who get these numbers and do nothing but worry
  
  Second, I'm in the worrying mode. My wife is 37, Asian (Chinese native) and we were told our risk was about 1 in 170 or so. We had a 14 week screen an the ultrasound was perfect, but the blood work resulted in her moving up to 1 in 148. We were a bit disappointed but still iffy about an amnio as the change was not much and the risk factor was similar.
  
  Yesterday we had our 20 week screen. The tech didn't notice any problem. N.Fold was fine, fibia was fine, but the doctor who came in to review the pictures did notice an EIF. She said 'Asians have this more frequently' but that it was a marker that had an increased factor of about 3, taking our risk down to 1 in 50. She repeated the bit about Asians having it more common, but said there is no 'good math' as to how to alter the multiplier, and even if there was it is still an increased factor, even in Asians.
  
  So now were at 1 in 50 and seriously considering an amnio. The genetic practice we were at specializes in amnios and testing so they feel their success rate is more like 1 in 600 than the oft quoted 1 in 200, but still I'm concerned.
  
  Do any good numbers exist for Asians and EIF or is it still kind of early to know? Any other advice you could offer would be appreciated. Thanks

   

• At Wed Jul 23, 11:15:00 AM 2008,  Francisca said…

  I am also in the worried mode. My first trimester screening gave me a chance of 1/9,000. I was very happy and relieved. Now I got the report of the anatomy scan and the baby has short femur and humerus, the nuchal fold is suboptimal, and the flow of the heart left side is also suboptimal. These are all soft markers for Down Syndrome. My doctor didn't give much importance and he said that I should rely only on the screening. I am worried and thinking about doing an amnio. I need a second opinion.

   

• At Wed Jul 23, 12:48:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Lorac: Thank you for sharing. You point out a VERY important reason for having that information before the baby is born - the time to prepare and plan the little time you will have with your baby is so much more important than the chaos and loss of time that often accompanies births of babies with previous unsuspected lethal conditions. Kind regards. Dr T

   

• At Wed Jul 23, 12:53:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To worried: About one-third of Asian women will have babies with EIFs. They are almost worthless markers anyway and in Asian women, I completely ignore them. The presence of an EIF should not increase your risk by a factor of more than 1.4-1.5, placing you more in the risk range of 1 in 100. If you figure they are nornmal findings in 1/3 of Asian women, that probably puts you back at a risk of 1 in 150. It is true that in experienced hands, the risk of the amnio is low, but sometimes people do lose their babies as a direct result of the procedure, and often when that happens, the babies were chromosomally normal. You both have to make the decision that is right for you. Good luck. Dr T

   

• At Wed Jul 23, 12:57:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To francisca: Interpretation of the femur length and humerus length depends to some extent on your own ethnicity and stature. If you are short and Asian or Hispanic, those measurements may be perfectly normal for you. Not having seen the ultrasound myself, all I can do is suggest that you discuss the results again with your doctor and then make the decision that is right for you. Dr T

   

• At Thu Jul 24, 02:26:00 PM 2008,  WorriedMomToBe said…

  Dear Dr.T
  
  I am so glad I stumbled upon your blog. I love reading it and I really appreciate all the insight you give to your readers.
  
  I am a 41.5 year old pregnant woman, who completed her 16th week today (Thursday). After my first trimester screen (ultrasound and blood test) the perinatologist calculated the odds for Trisomy-21 were 1:840 and Trisomy 13 and 18 were 1:1830.
  Yesterday, at 15 weeks and 6 days, I went for my amnio appointment. The perinatologist said everything in the ultrasound looked fine, but when she stuck the needle in my stomach, she could not get it to pierce the amnion (I believe she penetrated the chorion). She stopped the procedure and said the two membranes had not fused completely and told me to reschedule the amnio after one week. She believed the ultrasound showed some "tenting" of the membrane, due to which the two membranes appeared to have fused, but actually were still separate.
  My question is, am I at an increased risk of miscarriage, because the amnio procedure will be carried out twice ? Also, I have read in on other websites and forums, that if the amnion and chorion have not fused completely at 16 weeks, there may be chromosonal abnormalities and a chance that the fetus has Down Syndrome. Is this true ?
  
  I had one Trisomy-21 pregnancy 2 years ago, which was terminated after severe complications at 18 weeks.
  
  I am really worried about the miscarriage risk, and also the possibility of fetal complications due to the delay in chorion amnion fusion. Please give me your insight. Both my husband and I are very worried.
  
  Thank you very much!
  
  -WorriedMomToBe

   

• At Fri Jul 25, 01:24:00 PM 2008,  Anonymous said…

  I had an amnio on July 18, 08. After the aminio I felt great no cramping, no bleeding or leaking. My husband and I have sex last night and today I have a weird feeling. I feel the usual heaviness when you are expecting your period. I am not sure if this is something else caused by the amnio or just that I am soared.
  
  Is this weird feeling normal after having an aminio. I have the aminio a week ago. I am very concern I am afraid of an infection or loosing my baby.

   

• At Fri Jul 25, 03:37:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To worried Mom: You are correct in your reading. Lack of fusion of the amnion and chorion can be associated with chromosomal abnormalities, but it is not invariably so. We used to often see "tenting" years ago when we did amnios at 15-16 weeks and used a larger caliber needle, so maybe that's all that happened. Unfortunately, since you are having two procedures and you had a minor complication from the first, the overall risk quoted by your doctor initially is at least doubled. I hope everything turns out fine. Please let us know how you do. Dr T

   

• At Fri Jul 25, 03:40:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous July 25: There is no way to tell you what this means at this time without examining you. It could be absolutely nothing to worry about or it could be that you are having premature cervical change that may or may not be related to the amnio. I think you should call your doctor, relate your symptoms, and let him/her decide if you need to be seen. An ultrasound of the cervix might be appropriate under these circumstances. Good luck! Dr T

   

• At Sat Jul 26, 06:32:00 PM 2008,  Anonymous said…

  Dear Dr.T,
  
  I am 39 years old and 12week pregnant. This is my first pregnancy. My first trimester screening results came back with these odds, 1/961 for down, and 1//505 for trisomy 13/18. My perinatologist called these number "favorable".
  
  My NT is 2mm. FhCG 0.45MOM and PAPP-A is 0.76MOM.
  
  I would like to skip any invasive tests. The perinatologist does not object. But I am a bit concerned with the trisomy 13/18 number. What do you think?
  
  Concerned.

   

• At Mon Jul 28, 11:24:00 AM 2008,  allysmommie said…

  Dr. T,
  Please...I need your advice. My Triple screen came back at 16 wks that it was negative...the numbers were 1:8800 for chance of abnormalities. Then I had an u/s at 18wks and they noticed an EIF in the left ventricle, after being notified of that I was not too scared about it, so now that brought my chances to 1:4400. Keep in mind that I have had 3 sonograms before the high risk sonogram and none of them have had any other abnormalities listed on the reports including one on 7/21 I had done. Well I had the one at high-risk done on 7/23 and they said that the femurs are slightly shorter than expected however they are consistent with the other sonograms I have had and that it could be a soft marker for Downs. I personally don't think that anything is wrong but I want to be informed of all the info. However, I'm scared of miscarrying since I already had a miscarraige earlier this year and I don't think that I could live with myself if this would ever happen again since technically it would be my own fault for getting the amnio. Please let me know your thoughts on this....Thanks a million!!!

   

• At Mon Jul 28, 04:42:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous July 26: That is actually a very reassuring result for trisomies 18 and 13. More than 90% of those babies will have severe abnormalities that are readily detected by ultrasound at 18-20 weeks, so you might want to hold off any decision regarding an amniocentesis until then. Best of luck to you! Dr T

   

• At Mon Jul 28, 05:15:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To allysmommie: The risk of the amnio is still much greater than the chance this baby has Down syndrome based on what you have told me. That's all I have to say. the final choice must be yours! Good luck. Dr T

   

• At Tue Jul 29, 07:36:00 AM 2008,  (not as) Worried said…

  Hi,
  
  I was the poster 'Worried' who mentioned the Asian wife with the EIF spots. Just wanted to let you know we ended up doing the amnio and the results came back clear, so needless to say we're feeling pretty relieved.
  
  Interesting note: The doctor at the genetic office where we got tested raised the risk from 1 in 140 to 1 in 50, but the 'genetic counselor' kind of agreed that the EIF in an Asian wasn't necessarily that big of a marker and said they wouldn't have raised it as high (they wouldn't have lowered our risk level either though).

   

• At Wed Jul 30, 01:32:00 PM 2008,  TwinMommy said…

  Hello, I am 33 years old and 14 weeks pregnant with fraternal twins. I just got my results back from the first part of my quad screen and the number for Downs Syndrome was 1/133. I have the remaining blood test scheduled for next week, so hopefully that will give me some better odds. I am leaning toward getting an amnio, but realize that I will need to get two due to having twins. I assume this increases the risk of miscarriage? I know the decision is mine and you cannot make a recommendation either way, but 1/133 (as it stands now) is pretty scary to me. Thank you for your thoughts.

   

• At Tue Aug 05, 10:18:00 AM 2008,  Anonymous said…

  I had amnio 7 days ago and am currently 17 weeks pregnant. I did not find it painful and really had no cramping or other symptoms. However, I had started to feel the baby kick the day before and he kicked on the day of the amnio and the day after...since then, nothing. Is it common to be able to feel the baby and then for it to stop?

   

• At Wed Aug 06, 01:05:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Worried July 29: I am very glad to hear about the good amnio results. You will find that much of what we do in regard to the counseling in this area is not entirely black and white. There are many shades of gray. I just try to put a sensible perspective on things. Good luck for the rest of the pregnancy! Dr T

   

• At Thu Aug 07, 02:08:00 PM 2008,  Anonymous said…

  My husband and I are trying to decide whether to have an amnio. I am currently 19 weeks pregnant with a girl. In February we lost a baby at 14 weeks in utero (trisomy 13). We had 1 other miscarriage a year before, but never knew why. I am now pregnant - our afp scores came back excellent 1-10,000 for trisomy 13/18. At our last ultrasound a 5mm choroid plexus cyst was found on the brain, there was another one, but very small (2.5mm). This is sometimes, but not always seen in babies with Trisomy 18, I was told. No other markers were found at all. They are going to do a more detailed echo of the heart at 23 weeks. My Dr. said overall the results weren't bad, that the cyst can dissolve and may just be an isolated marker. Taking into consideration, my age (39), previous genetic history, and cyst is it greater risk to have a miscarriage due to amnio versus this baby actually having trisomy 18. I am struggling back and forth with the decision to do an amnio or not. I am trying to weigh everything. I feel for anyone who has to make such a choice - Thank you.

   

• At Thu Aug 07, 05:18:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To twin mommy Jult 30: 14 weeks is a little early to have a "quad screen" done so I am wondering what tests have been performed. Regardless, if you are scared by the results and need the information, you should go with your gut and have the amnio. The odds are still good the babies do not have a chromosomal abnormality. An alternative, especially if you would not terminate the pregnancy if only one baby had a chromosomal abnormality (although you do have some other options there, like 'selective reduction) would be to wait until you are further along to have a targeted ultrasound done. If one or both of the babies have abnormalities (major or 'soft') then you might consider just having the amnio done on the one that looks abnormal. Let us know what you decide and how things turn out. Good luck and thank you for reading. Dr T

   

• At Thu Aug 07, 05:22:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Aug 7: Based on your test results, the risk is far greater from an amnio than it is that this baby has trisomy 18: furthermore, if the baby was normally grown and the only 'abnormality' seen was a choroid plexus cyst, it is also very unlikley the baby has either trisomy 13 or 18 - these chromosomal abnormalities are usually accompanied by poor fetal growth and major congenital anomalies. Chances are that this baby is chromosomally normal and the CPC will probably be completely gone (with no long-term consequences) by 24-26 weeks. Best of luck and thanks for reading! Dr T

   

• At Thu Aug 07, 07:14:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Aug 5: At this early gestational age it is not unusual to feel the baby and then not, but for peace of mind, you should tell your doctor and let her/him listen for the fetal heart or do an ultrasound. Good luck. Dr T

   

• At Thu Aug 14, 03:24:00 PM 2008,  Anonymous said…

  Dear Dr. T,
  
  I am a 29 year old and 23 weeks pregnant with my first child. I had no first trimester US but did the triple screen, which left me with a ratio of 1/700 for Downs. All other results were good.
  My Doc send me to have a detailed US anyway and they found a thickened nuchal fold. This was followed up with a second US two days later in a different clinic.
  The measurements were 7.5 and 8.2 mm respectively and the nuchal index came up as 13.4 and 14.3.
  After the second scan we met a genetic counselor who advised us that the ratio is now at about 1/14 (7.7% to be exact), which represents an 54 increase based on this single marker.
  During both US no other markers were found (all measurements were done twice, once in each clinic) and the baby appears to be healthy and at the right size etc.
  
  We are worried about the new ratio but are also afraid of an amnio since the risk still does not seem to be justified.
  Our biggest question is, how strong a marker the fold thickness is especially since we were told that we are already past the usual gestational age for this measurement, and how reliable the ratio is.
  
  Thank you

   

• At Thu Aug 21, 05:50:00 AM 2008,  BeingPreg-oStinks said…

  i would first like to say thank you for your time! It seems you are able to ease peoples fears. My amnio is set for tomorrow, the total risk for DS is 1/162 due to my due date age of 34 and 'abnormal' Quad screen #s. (AFP: 0.74, uE3: 0.61, hCG: 1.52, DIA: 1.24) the # came as a surprise as my NT screen results were normal. At the same 16 wk visit my BP was UP, not Preg-O I'm known as Borderline High, so they are already talking Preeclampsia and 'bedrest'. As my husband and I are Need to Know people we have been going insane since last Friday. Now in my babbling I seem to have forgotten my question, so any advice for controlling my fears until the FISH results are in would be helpful, of course once those are in I may be faced with a whole new set of fears. Thank you again for your time.

   

• At Fri Aug 22, 09:59:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Aug 14: I never perform nuchal thickness at 23-24 weeks because it is byond the time of greatest reliability for reassessing Down syndrome risks. Babies start diverging their growth and subcutaneous fat deposition at that point and simple hyperextension of the fetal head, especially if the baby is in a breech lie, can give a falsely 'positive' result. I do not know what you have decided to do diagnostically at this point, but if the baby is normally grown, especially the long bones, and no other stigmata of Down syndrome, or major abnormalities are seen, the "risk adjustment" may be simply be an overexaggeration. It's still your option to find out for sure and the risk of amnio is low enough compared to the "risk" you have been given, that no one would consider it unreasonable if you did that. Sorry for the situation you have been put in and best wishes! Please let us know how things develop. Dr T

   

• At Fri Aug 22, 10:02:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To being prego: If your risk based on first trimester screening was "good" and the risk from the "quad screen" was 1 in 162, then your true risk probably lies somewhere in between. Even if that is not true, then you still have a 161 out of 162 chance (> 99%) that your baby does not have Down syndrome. I am betting everything is just fine. Let us know when you get the FISH results! Best wishes. Dr T

   

• At Sun Aug 24, 12:09:00 PM 2008,  Anonymous said…

  Hi. I had an amnio 3 years ago with my son. Everything went well. A month ago I had an amnio at 16.5 weeks. I was pregnant with a little girl. When I went in for my 19 week checkup, they told me the baby was dead. My OB said the baby must have died around 17 weeks which means a few days after the amnio. I had no cramping at all, no bleeding, no leaking, no infection. The amnio results came back normal. How can this happen? Can a perfectly healthy baby just die like that, was it the amnio? No one can answer my questions. I can't understand why this happened.

   

• At Mon Aug 25, 10:00:00 AM 2008,  Anonymous said…

  A little confused about the risk numbers being thrown around. My wife is 35 and I am 40. She is 5 months along. The doctor said that there is a 1-500 risk overall for a chromosone disorder. However since she is 35 the risk is 1-250. An EIF on the heart showed up (everything else fine) and that increase the risk to 1-125. Now because of my age, the risk is 1-112. Our midwife and doctor says those are still great odds and we should not worry about it at all (easier said then done). Are we facing a huge risk here? We are not sleeping and worried like crazy.

   

• At Tue Aug 26, 05:33:00 AM 2008,  beingpreg-ostinks(butalittleless) said…

  Good Morning Doc: 'beingPreg-OStinks' here with the results that came in late last evening with a warning that the don't cover every possibility! Normal GIRL, correct number of 'somes.
  thank you for your time, I know that you have been able to comfort at least one more individual.

   

• At Tue Aug 26, 07:19:00 AM 2008,  Anonymous said…

  Hi Dr. T,
  
  First of all congratulations for the Service and support that you are providing to the worried mothers.
  I am 18 weeks pregnant and had my first trimester risk for downs as
  1:230. With the quad screening at 17 week, the risk went down to 1 in 10000, which I thought was kind of odd considering my first Trim risk. Now I am in dilemma if I should get the Amnio done as I am 37 years old. Thank you so much.

   

• At Tue Aug 26, 05:13:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Aug 24: If the baby really was chromosomally normal and had no major malformations, it probably was a complication of the amnio. Since it occurred so soon after the amnio, the most likely explanation is that there was a vascular accident. The needle may have lacerated a placental vessel or pierced the umbilical cord and the baby lost too much blood. Thoses events are fortunately rare, but in your case was devastating. It was NOT likely to be an infection. I am so sorry. In my experience most of the babies lost following an amnio ARE chromosomally normal and that is a point I discuss with every patient when they make the decision to proceed with one. I am so sorry for your loss. I hope this helps. Thank you for reading and kind regards, Dr T

   

• At Tue Aug 26, 05:25:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Aug 25: Did your wife have either combined first trimester screening or midtrimester screening by serum markers. Either of those could have provided a more reliable estimate of risk than that based on age alone. Risk is related to both maternal age and trimester (risk that you will actually deliver a chromosomally abnormal baby decreases each trimester because a significant percentage of these babies are lost throughout pregnancy). At age 35, your wife's midtrimester risk for a baby with a chromosomal problem (based only on age alone) is about 1 in 256 for Down syndrome and 1 in 141 for any chromosomal abnormality. Unfortunately, there is some data to suggest that the presence of an EIF can as much as double her risk (placing it in that 1 in 125 range you have been quoted). Personally, if everything else appeared normal and the baby's growth is also normal, I tend to downplay EIFs as 'soft markers.' They are just SO common in so many normal babies that I have a hrad time giving them any credence. So, I think your providers are telling you the same thing I am. By the textbook, things look a little scarier, but the odds are in your favor the baby is chromosomally normal - and if you cannot live without knowing, then have an amniocentesis, but please read my response to the reader before you who lost a normal baby following an amnio. Best wishes for the rest of the pregnancy! Let us know how things turn out. Dr T

   

• At Thu Aug 28, 02:53:00 PM 2008,  Fountainofyouth said…

  I too am very concerned about the risks of amnio and am in decision-making mode. My preference is to forego it provided my NT and blood tests are favorable.
  I am 37 years old, and we just started infertility testing in June when I became pregnant naturally. I was told at that time I "had the eggs of a 32-year-old" based on a battery of blood tests. I currently am in Week 11, 2 normal ultrasounds under my belt thus far, and my NT test and first round of blood tests is next week (Week 12).
  My question is: Since I had the benefit of knowing my egg quality beforehand, does this allow me to join the lower-risk category of those 35 & under? If so, can I assume this plays in my favor when considering the risks of chromosal issues?
  Thank you for this excellent board. You're doing a huge service.

   

• At Tue Sep 02, 12:03:00 PM 2008,  Nina said…

  Nina
  I am 35 years old and I have been given a 1:200 chance of my baby having down syndrome. My backgound risk: 1:220, My ultrasound risk: 1:754 but my biochemistry risk is 1:58. I was scheduled for an amnio on Monday but I couldn't go through with it. Should I be more concerned about the blood test results than the ultrasound risk? I have experience 2 miscarriages in the past year, which makes me nervous about the amnio. I'm considering waiting until the 20 weeks to see if anything abnormal shows up in the scan before deciding on amnio. Is an amnio ok when you're 20 weeks or are the risk of miscarrying the same?

   

• At Tue Sep 02, 04:09:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  Nina: I am confused. At what stage in the pregnancy and what did you have done to give you the disparate "ultrasound and biochemistry" risks? Is the 1 in 58 risk based on "combined first trimester risk assessment" or is that based on midtrimester maternal serum screening only? If you can answer those questions I will give you my thoughts. By the way, in experienced hands, the risk of the amnio is similar between 16 and 20 weeks, so waiting awhile to see what the baby looks like is certainly a reasonable option and the choice is YOURS anyway! Good luck and let me know what you find out.
  Dr T

   

• At Tue Sep 02, 04:09:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  Nina: I am confused. At what stage in the pregnancy and what did you have done to give you the disparate "ultrasound and biochemistry" risks? Is the 1 in 58 risk based on "combined first trimester risk assessment" or is that based on midtrimester maternal serum screening only? If you can answer those questions I will give you my thoughts. By the way, in experienced hands, the risk of the amnio is similar between 16 and 20 weeks, so waiting awhile to see what the baby looks like is certainly a reasonable option and the choice is YOURS anyway! Good luck and let me know what you find out.
  Dr T

   

• At Wed Sep 03, 12:36:00 AM 2008,  Nina said…

  I had the combined first trimester nuchal scan 12 weeks + 3 days and the blood test was taken at 11 weeks + 3 days. I'm now 14 weeks + 3 days. I've been told that at my 20 week scan if no soft marker is seen then my risk is adjusted to 1:400. However, if there's area of concern then I'm quite prepared to do the animo then. But I can't help thinking should I not be scared at this stage and go ahead with the animo now and put my mind at rest. I'm wondering if having experienced two miscarriages before than I'm more at risk of miscarrying after this invasive procedure. I'd welcome your opinion as it's worrying me a great deal. Thanks.

   

• At Wed Sep 03, 05:18:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To fountainofyouth: I would be remiss if I didn't tell you that all 'age-based' counseling regarding risks for a chromosomally abnormal baby should be based on your actual age at the time of expected delivery. Let us know the results of your first trimester risk assessment, since this is a more reliable estimate of 'risk' than that based on age alone, and I will have more thoughts for you at that time. The odds are in your favor that the baby is chromosomally normal so best wishes! Dr T

   

• At Wed Sep 03, 11:42:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To pregostinks Aug 26: Well, CONGRATULATIONS and thanks for letting us know. Best wishes for the rest of the pregnancy and let us know how things turn out! Dr T

   

• At Wed Sep 03, 11:45:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Aug 26: Your screening test results are actually VERY good. The first trimester result returned at half your age alone risk in first trimester and the midtrimester result is fantastic. Your true risk probably lies somewher in between, but I would not be inclined to recommend an amnio under those circumstances. of course, the final choice on that os ALL yours! Best wishes and let us know how things turn out! Dr T

   

• At Thu Sep 04, 12:24:00 PM 2008,  Nina said…

  I had the combined first trimester nuchal scan 12 weeks + 3 days and the blood test was taken at 11 weeks + 3 days. I'm now 14 weeks + 3 days. I've been told that at my 20 week scan if no soft marker is seen then my risk is adjusted to 1:400. However, if there's area of concern then I'm quite prepared to do the animo then. But I can't help thinking should I not be scared at this stage and go ahead with the animo now and put my mind at rest. I'm wondering if having experienced two miscarriages before than I'm more at risk of miscarrying after this invasive procedure. I'd welcome your opinion as it's worrying me a great deal. Thanks.

   

• At Thu Sep 04, 07:12:00 PM 2008,  Anonymous said…

  I am 36 years old and 21 weeks pregnant. My OB called with the results from the quad screen and told me I had a 1 out of 78 chance of having a downs baby. I had been scheduled for an amnio 3 weeks ago, but had canceled it b/c I was scared of the risk of miscarraige. My husband and I are meeting with the specialist on Monday to discuss the results. I am torn about having any more testing. My husband, however, wants the amnio so that we can terminate the pregancy if it is a downs baby. My mother, a former Lamaze teacher, has witnessed many false positives with the screenings. Now I am confused, upset, and wondering what the next step is. Since I am a career woman and not willing to leave my career if it is a down's baby, my husband will not want it nor will he want to try having more children b/c he claims my risk of another down's baby would be the same.

   

• At Thu Sep 11, 03:48:00 PM 2008,  Anonymous said…

  I wanted to share my story to warn others. I am one of the ones who had a membrane rupture immidiatly after amnio. Came home and was soaking in amniotic fluid. I was fortunate that the leak sealed within 48 hrs and oligo resolved in one week. But the risks are real. The experince has traumatized me forver. please think twice before having this procedure as over 90% the result is normal.

   

• At Sun Sep 14, 05:02:00 PM 2008,  Anonymous said…

  Dear Dr T.
  
  Thank you for this forum to ask questions about this procedure. I'm scheduled to have my amnio this week which is my 16th week of pregnancy. I had the First Trimester Screening done in my 12 week with negative results (Downs Syndrome screening risk was 1:400 and Trisomy 18 was 1:10,000). The prenatal diagnosis center where I'm scheduled to have the amnio states they have a 1:500 risk of miscarriage. Prior to results, I told myself that I would only have the amnio if my risk of Downs or Trisomy was higher than the risk of miscarriage. Well, this would be true for my Downs Syndrome if their miscarriage rate is correct. On internet readings, the rate is listed as much higher (1:250 to as high as 1:100)which makes this all so confusing. I'm torn as to what to do. Prior to conceiving, I was told I couldn't have children of my own (only adoption or donor eggs) due to the fact that I had a high FSH level (22). I read an article on line about a study regarding higher FSH levels possibly correlating with a higher risk of Downs. Have you any info on this? Given the fact that my conceiving on my own was a miracle (the doctor told me I only had a 4% chance), I'm stressed over the possibility of losing my "miracle" baby because of the amnio and the fact that I feel this is my only chance at having a child. Is the amnio worth this risk? My husband really wants me to have one which adds to my stress. Thanks for any guidance you can provide.

   

• At Sun Sep 14, 05:35:00 PM 2008,  Anonymous said…

  My wife is 31 years old, and currently pregnant at 20 weeks and few days. She had a quad screen done, in her 18th week, and it came back positive. We were asked to go for genetic counseling, a targeted ultrasound, and an amnio. We had decided that we would only choose amnio if our ultrasound showed any soft markers. Before the ultrasound, our genetic counselor went over the quad screen results and told us that our risk was placed at 1:135
  We got the ultrasound done and it showed absolutely no soft markers. All the bones measured well within the target gestation age of 20 - 21 weeks. The NFT measured at 2.5mm. The baby was placed at 52 percentile of growth rate. Our risk was downgraded to 1:270 for downs. Based on that we declined the amnio. The physician told us that risk from amnio stood at 1:300 and it was our choice whether we wanted it or not.
  Our delima:
  After sleeping over this information and declining amnio, we still find ourselves worried sick. My wife scheduled for an amnio in the morning. But given the risk that amnio poses we are torn whether its the right thing to do. Based on a risk of 1:270 would amnio be worth it? My wife is asian descent (indian subcontinent). We have a beautiful 5 year old girl, and NO history of miscarriages. I would really really appreciate your advise and opinion

   

• At Wed Sep 17, 12:21:00 PM 2008,  JC/DC said…

  Hi Dr. Thank you for your wonderful service. I am 36 years old and just go the results from my first trimester screen. The results decreased my odds of Trisomy 21 and 18 significantly but raised my odds of Down's Syndrome to 1 in 110. Our view is perhaps instead of worrying until week 20 (I am 14 weeks today) for the ultrasound, should we just go ahead and do the amnio at 15-16 weeks? I am nervous about the amnio however because it does carry some risk. Thank you

   

• At Sun Sep 21, 04:36:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Nina Sept 4: I apologize for the delay in answering, but I JUST got your comment delivered to my mailbox today. Nina, you may have already had the amnio, but my repsonse to your question is that YOU should do whatever makes YOU comfortable. If you want the amnio, then have it done! Good luck and let us know how things turn out. Bet they will be just fine! Dr T

   

• At Sun Sep 21, 04:37:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Sept 11: Thank you for sharing. What you have been through is one of the reasons for having this blog. In the end you were very fortunate that the leak sealed over! Best wishes for the rest of the pregnancy and let us know how things turn out. Dr T

   

• At Sun Sep 21, 04:44:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Sept 14: I apologize for the delay in answering, but I JUST got your comment delivered to my mailbox today. Based on the thought process of your doctors, I should be doing an amnio on every patient who has a risk of 1 in 5000 or less. I am sorry, but I think they should also be telling you that at a 1 in 400 risk, the overwhelimng odds are that you will lose a perfectly NORMAL baby if there are any complications of the amnio. In the end please do what makes YOU comfortable, not what your doctors or even your husband tell you to do. Sorry guys, she has to live with the consequences of any decision she makes and you don't. As for the FSH and Down syndrome question, I actually addressed that in a post earlier this year (check through my archives). FSH and Down's risks both increase with age, but the two appear to be completely unrelated. Best wishes to you and let us know how things turn out. Dr T

   

• At Sun Sep 21, 04:47:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Sept 14: I apologize for the delay in answering, but I JUST got your comment delivered to my mailbox today. By now, your wife has either had her amnio or not. But the bottom line is that I would NOT have told you what to do anyway! The decision is yours/hers and yours alone, because you have to live with the consequences. I would be VERY surprised if your baby came back with Down syndrome under the circumstances you have described, so please let us know the final results. Dr T

   

• At Sun Sep 21, 04:51:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To JC/DC: Down syndrome IS trisomy 21, but the risk they gave you is probably for that. That 1 in 100 range is one in which we will often suggest an amnio. Even if an ultrasound is completely normal at 18-20 weeks, your adjusted risk at that point would still be considered an "at risk" range. But, as I tell everyone else who asks, the final decision is yours. Best wishes and please let us know the outcome. Dr T

   

• At Sun Sep 21, 06:28:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Sept 4: I apologize for the delay in answering, but I JUST got your comment delivered to my mailbox today with about 150 others. My recommendation is to have the amnio done for the reasons YOU have stated (and indeed you probably already have, considering my delayed response). Even with a 1 in 78 risk, the odds are still in your favor that this baby is chromosomally normal. You are 'risk positive' but that does NOT mean the baby has Down syndrome. One other comment with rgerad to mor babies - you certainly could have a baby with Down syndrome or another chromosomal abnormality with a subsequent pregnancy, and, indeed, your risk will be higher the next time because you will be older. But the odds are still in your favor that you can have another perfectly normal baby. I would strongly suggest that if you do decide to get pregnant again, regardless of the outcome of the current pregnnacy, you consider having CVS done in first rimester considering both your husband's and your own feelings about having a chromosomally abnormal baby. Best wishes and let us know what you find out. Dr T

   

• At Thu Sep 25, 12:41:00 PM 2008,  Anonymous said…

  Dr T,
  
  I am 39 years old and 15 weeks pregnant. I am scheduled for amnio, but am worried about the risk of loss. I am confused by my NT screening results. According to the results (was done at 12 weeks 5 days based on CRL, 12 weeks based on LMP). NT was .87 MOM, PAPP-A .72 MoM, and HCG 2.75 MoM. They put my risk at 1:28 of Down Syndrome. I went for CVS on 9/19, but they decided not to do it based on gestational size per ultrasound as 14 weeks 2 days as well as a bleed near the placenta. I am scheduled for Amnio on 10/3 when I will be 16 weeks 2 days by the last ultrasound, but only 15 weeks 2 days by LMP. Is that too early to do an amnio? Why is my risk so high, I have read other women's results that don't look too much different from mine with a much lower risk factor for Downs?

   

• At Thu Sep 25, 06:45:00 PM 2008,  Anonymous said…

  I am the 36 yr old who had the 1 in 78 chance that the baby could have Downs (Sept 4 posting). I had the amnio and the results are normal! For the 2nd child I will have CVS. Thanks!

   

• At Fri Sep 26, 06:45:00 AM 2008,  Katie said…

  I am 33 years old and 16 weeks pregnant with baby #2 (baby #1 is a healthy, 3-year-old boy). I did not get the first trimester screening. I had the second trimester screen (triple screen), and got normal values for trisomy 18 and NTDs, but was told that my risk of a Down Syndrome child was 1:58. These odds seem much higher than any others I have heard. My husband and I are so worried and confused and don't know if amnio is the right choice for us. Any advice you can provide would be appreciated.

   

• At Tue Sep 30, 10:24:00 PM 2008,  raesin82 said…

  Hi Dr. T
  I had my MSS done when i was 15.4 wks, due Feb 10. i wanted to do another blood test b/c they addressed my due date as Feb 16 then changed it back to Feb 10-'denied'. afp was .74 inhibin 1.09 hcg was normal and est was a little low. the genetic counsler immediatly requested an amnio. i asked for a level 2 ultrasound. that came back normal with everything seen and average. the nuchal fold was 5.4. however both the doctor and gc stated that this does not rule out trisomy 21 for which was the only risk posed. my risk was not adjusted after the level 2 leaving me at 1 in 128. im 26 yrs old mixed african american, this is my first pregnancy after two abortions(spontaneous and induced). i dont want to lose my baby at any risk, but i am scheduled for an amnio. does the 1 in 128 put me at a "substantially higher risk," where i should do the amnio?
  i have to make a choice between losing my daughter and having or aborting a deformed girl for which i dont have the strength to do either. my best friends brother and others had downs. i dont think i could live with that. please help-scared stressed and all cried out.

   

• At Mon Oct 06, 07:10:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Sept 25: Your age, the elevated hCG and the difference between the MoMs for the hCG and the PAPP-A are what have increased your risk. It is reassuring though that the PAPP-A is not unusually low, so I am betting things are okay. I generally prefer to do my genetic amnios between 15 and a half and 16 and a half weeks just as your doctors are proposing. Best wishes and let us know how things turn out. Dr T

   

• At Mon Oct 06, 07:11:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Sept 25 06:45 - Congratulations and best wishes for the rest of the pregnancy. Thanks for letting us know! Dr T

   

• At Mon Oct 06, 07:14:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Katie: At your age, that risk for Down syndrome is about 10 times your age alone risk and 5-10 times the risk of the amnio. In the end the final choice is yours, but this is certainly a good reason to seriously consider the amnio. Good luck and let us know how things turn out. Dr T

   

• At Mon Oct 06, 07:18:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To raesin82: You did not tell me how old you are. Regardless, the risk of the amnio is 2-4 fold less than the chance the baby has Down syndrome. Your doctors could nort reduce your risk based on the ultrasound because of the relatively wide nuchal skin-fold. Unfortunately, that is one of the more reliable 'soft markers' for Down syndrome. In your case, the amnio is certainly very reasonable and the risk is relatively low. Let us know what you decide to do and how things turn out. Dr T

   

• At Tue Oct 07, 03:12:00 PM 2008,  Anonymous said…

  Dear Dr. T--
  I am 34 and my first semester screen resulted in a positive result, with odds of down's being 1:150 (I will be just a few weeks shy of 35 on the due date). I am considereing having an amnio, but am concerned about the risks involved with the procedure. Also, I have a 2.5 year old that was delivered via c-secation at 30 weeks due to severe IUGR...I am concerned about preterm labor (I did not experince that in my last pregnancy. Also wondering if there is anything an amnio might dertect to give clues regarding the possibility of IUGR again. Can you please advise? Thank you- moomy of tiny wonder

   

• At Wed Oct 15, 03:22:00 PM 2008,  Anonymous said…

  Dr T,
  
  I am the 39 year old with the 1:28 risk of Down syndrome that wrote you on Sept 25th. I just got my results today...all is normal, and a boy :) Very relieved! Thanks for your response, it helped while I was waiting...

   

• At Wed Oct 22, 06:59:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To mommy: I just received this in my mailbox the other day so I apologize for the delay in my response. Manywomen in your situation will simply opt for a 'targeted' sonogram at 18-20 weeks. If that is 'normal', your risk for Down syndrome is reduced by at least 50% (no worse than 1 in 300 in your case). Best wishes and I hope the rest of the pregnancy goes well. Dr T

   

• At Thu Oct 23, 08:12:00 PM 2008,  Anonymous said…

  Dear Dr. T.,
  
  I’m 34-years old and am 17 weeks, 6 days pregnant.
  
  I had the AFP blood test performed and it came back positive for Down's Syndrome (1:130).
  
  Yesterday, I had a detailed ultrasound performed and the measurements of the baby were normal. The genetic history of my husband and I are void of any syndromes, sequences, or abnormalities.
  
  Am I still at a risk for delivering a baby with Down's Syndrome? Also, should my husband and I consider having an amnio due to the possible risk for Down’s? We are extremely concerned about complications that may arise with the amnio and any guidance would be greatly appreciated.
  
  Thank you.

   

• At Thu Oct 23, 08:13:00 PM 2008,  Anonymous said…

  Dear Dr. T.,
  
  I’m 34-years old and am 17 weeks, 6 days pregnant.
  
  I had the AFP blood test performed and it came back positive for Down's Syndrome (1:130).
  
  Yesterday, I had a detailed ultrasound performed and the measurements of the baby were normal. The genetic history of my husband and I are void of any syndromes, sequences, or abnormalities.
  
  Am I still at a risk for delivering a baby with Down's Syndrome? Also, should my husband and I consider having an amnio due to the possible risk for Down’s? We are extremely concerned about complications that may arise with the amnio and any guidance would be greatly appreciated.
  
  Thank you.

   

• At Wed Oct 29, 06:55:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Oct 23: If the ultrasound is normal, the chance of the baby haviong Down syndrome is at least 50% less than the risk based on the "quad screen." That is the risk is no worse than 1 in 260! That would still be considered 'screen positive' but it is STILL just a 1 in 260 risk or less. You will have to make the decision about an amnio on your own given this information and balancing that with the risk of an amnio. Good luck and let us know how things turn out. Dr T

   

• At Fri Oct 31, 07:10:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Oct 15: Thanks for filling us in on the good news. I know that many readers will find comfort in your experinece. I appreciate your sharing the results. Best wishes for the rest of the pregnancy! Dr T

   

• At Thu Nov 06, 04:20:00 PM 2008,  Anonymous said…

  Dear Dr T.
  I am 35 years old and 17 weeks pregnant. I got my First Trimester Screening which was 1 in 5028, for Down Syndrome. Now I met with my Dr. he said that the quad exam is abnormal, 1 in 230 DS. The 2 exams were done in separate clinics. I am worried about having the amnio. What would you recommend? I really appreciate your comments.

   

• At Sat Nov 08, 08:45:00 PM 2008,  Anonymous said…

  Thank you Dr. Trofatter for this wonderful blog. i am 40 years old and 16 weeks pregnant with my first child. i am wondering if i should have an amnio or not. here are my stats so far... NT neck .7, DS 1:700, Trisomy 18 1:10,000. i'm feeling pretty good about my #s so far and have had a smooth pregnancy. i just had an AFP and i'm waiting for those results. are these numbers good enough to bypass an amnio at my age? i'm leaning toward not having one, but still not sure... thanks in advance!!
  -Eviebright

   

• At Sun Nov 09, 03:48:00 AM 2008,  idj said…

  Dear Dr.T
  
  We had our 12 week scan two weeks ago. I am 36 years old and have been given a risk of Trisomy 21 of 1:683 and Trisomy 13/18 of 1:6954.The baby's NT was 1.9mm at 12 weeks and 3 days. My hCG was 3.8500MoM amd my PAPP A was 1.6200 MoM. We are concerned as we were advised by the genetic counsellor that the blood results were very elevated and to quote the counsellor "bizare"! Needless to say her comments did not help. We were given no explanation as to why I could have such high levels despite asking a number of times. Please can you tell us what can cause these elevated levels in bloods? Can you also tell us what is considered a healthy range of hCG and PAPP A at 12 weeks of pregnancy? We are considering having an amnio due to my blood results and have read different information about the level of risk involved (anywhere from 1:200 to 1:1600), what is the latest thinking on this? Any other advice you may have to offer would be very much appreciated. Thank you for your time. Thanks, idj.

   

• At Mon Nov 10, 02:56:00 AM 2008,  Anonymous said…

  Hi Dr T,
  
  I just turned 33 today and am now in week 13 and day 6 with my first child. I had my scan and blood test on week 12 and blood test showed that I am on the high risk of 1: 148 of having down syndrome baby. My gynae has recommended amnio test to be taken in week 16. I have been having sleepless nights as I am in dilemna of whether I should go for amnio and risk miscarrriage (should the baby turn out fine) or not going for amnio which I maybe worrying sick till I deliver. I do not want to bring a child to the world having to suffer from defects. What should I do?

   

• At Wed Nov 12, 02:25:00 PM 2008,  Anonymous said…

  Hi Dr. T
  I am currently 16 weeks along with my first baby. It was a big struggle to get pregnant, so we view this baby as a sort of a miracle. I am 34 years old and did my first semester screen and my DS risk was 1/3853, which is great. However, when I did my second semester bloodwork, my DS risk rose to 1/1088. I know that this is still considered in the normal range, but i am very concerned about my number getting worse. Have you seen this occur before? Should I be freaking out as much as I am?

   

• At Wed Nov 12, 07:21:00 PM 2008,  Anonymous said…

  My partner (42 at estimated time of delivery) is in her 15th week of pregnancy. In the country of our residence, there has been no offer of comprehensive genetic screeing; based on her age, we were told the risk for Down syndrome was 1/40 (if memory serves). After travelling for hours to have an NT scan in another city, we were told everything looked normal and that perhaps the risk could be informally decreased to 1/100. We decided to proceed with an amniocentesis, which was performed yesterday. The needle was only inserted once, but my partner was very tense throughout, which only served to feed her panic.The doctor and nurses did not indicate they had had any special difficulties.
  
  Within minutes following the procedure there was leakage of fluid. A gynecological exam released a further outflow of fluid, and now (less than 24 hours later) the leaking continues if perhaps at a decreased rate. A sonogram performed this morning confirmed that the fetus was still moving and showed no obvious problems, but to both trained and untrained eye, the level of amniotic fluid has obviously decreased from yesterday leaving relatively little space on one side of the fetus.
  
  The supervising doctor was not at all encouraging following the gynecological exam - though he was not keen to assign a precise probability, he said the chance for survival was less than 50%. My lay and feverish analysis of online resources suggests that while the complication is significant, the prognosis is far from certain and perhaps there is reason to be guardedly hopeful for a better chance of recovery. I feel, however, completely inadequate in understanding the situation; how much fluid is "minimal", how much is "significant" or how long is "too long" for the leaking to continue? Google returns a lot of hits for academic literature that seems pertinent, but only available by subscription or purchase, and the lay literature is deliberately vague. It seems like a long shot, but do you have any more information or advice about leakage following amniocentesis?

   

• At Sun Nov 16, 02:00:00 PM 2008,  Anonymous said…

  Dear Dr.
  I am in decision mode on the amnio as well. My first trimester screen results were this:
  NT measurement: 1.2
  Nasal bone present
  free B-hCG: 2.416 MoM
  PAPP-A: .537 MoM
  
  My risk came back 1:372 for Tri 21 (Down Syndrome). I'm 39.
  
  It is obviously the blood work that has me worried as I understand that both an increase in free B-hCG & and a low level of PAPP-A can indicate Trisomy 21. So, I am looking for any advice on getting the amnio. THANKS!!

   

• At Wed Nov 19, 11:24:00 AM 2008,  Anonymous said…

  My wife is 35 years old (will be 36at delivery), and we had a level 2 ultrasound in our 17th week. The scan revealed unilateral pyelectasis (3.9mm) for the right kidney. It is a boy. Our understanding is that this single marker for Downs does not warrant amniocentesis. However, we are unclear regarding the risk of Downs given this marker in conjunction with maternal age. The doctor suggested an additional ultrasound in the 34th week. Would it be wise to have an additional ultrasound at an earlier time period? We were told that the problem could be associated with Downs, it could a "kink" in the Ureter, or it could be related to a full bladder, among other possibilities. Obviously, we have been overwelmed with information. We have several questions: 1)What is the risk of Downs Syndome given this single marker in a woman who is 35? 2)How would this risk balance with the inherent risk of amniocentisis? 3)Should we have additional ultrasounds to evaluate the pyelectasis prior to 34 weeks? and 4)Why was the AFP/Quad screen not ordered until after we had the level 2 scan? Thank you.

   

• At Wed Nov 19, 10:39:00 PM 2008,  Anonymous said…

  Dr T,
  
  My wife is currently 16-17 weeks we did the quad test screen and received the result of 1:72 for Down Syndrome. We are both very worried, as the Doctor said the test result put her in the High risk category. The Ultra-sound at the time of the test result didnt indicate anything worng, but the Doctor didnt give much comment. She has booked an Amino for next week and we are worried if this is worth the risk of Amino related complication? Would this be the normal reccomendation for a 1:72 quad result? While I do understand the decision can only be made by us, you views would be greatly appreciated.

   

• At Wed Nov 19, 10:42:00 PM 2008,  Anonymous said…

  Dr T,
  
  My wife is currently 16-17 weeks we did the quad test screen and received the result of 1:72 for Down Syndrome. We are both very worried, as the Doctor said the test result put her in the High risk category. The Ultra-sound at the time of the test result didnt indicate anything worng, but the Doctor didnt give much comment. She has booked an Amino for next week and we are worried if this is worth the risk of Amino related complication? Would this be the normal reccomendation for a 1:72 quad result? While I do understand the decision can only be made by us, you views would be greatly appreciated.

   

• At Thu Nov 20, 06:49:00 AM 2008,  Anonymous said…

  I have a very similar situation to "Worried". I am a 30 year old Korean women, married to German/Italian man. I am 24 weeks pregnant with our first child. At 19 weeks, I was told that the Quad-screen test came back positive for down syndrome and I had a 1/166 chance. That same week I had an ultrasound that showed the baby looked great - no soft markers, but the doctor wanted me to come back at 23 weeks to look that the baby's heart just to make sure. At 23 weeks they found an EIF on the baby's heart, which changed my chances to 1/42. I was devestated. I ended up having the amnio the next morning. I am waiting anxiously for the results. The doctor who performed the ultrasound nor the genetic counselor mentioned the Asian/EIF factor.
  
  Knowing what you know about Asians and EIF would you have changed my chances to 1/42?

   

• At Thu Nov 27, 06:21:00 AM 2008,  Anonymous said…

  Drt T, just in follow-up to the comment made on Wed Nov 19, 10:42:00 PM 2008
  
  My wife did the quad test and is aged 36, the risk rating was 1:72. We booked and attempted the Amnio, during the procedure the Doctor had to attempt it 2 times, and both failed due to the baby moving, the doctor wanted to try for a 3rd time, but my wife by that point was very upset and said no. She is booked for the 3rd Amnio attempt next week, but we have decided to cancel as 3 times just seems to risky, The Ultra sounds so far have all been given a healthy comment from the Doctor. as she is now nearly 17-18 weeks we really could not consider terminating at this stage even if it is truly positive. Just to understand with a 1:72 risk plus a healthy ultra do we still stand a good chance of having a healthy Baby? Does this really equate to a 71 out of 72 babies born from a mother with this risk profile will be healthy? Any advice greatly appreciated.
  
  Sincerely
  Worried Husband

   

• At Thu Nov 27, 04:56:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Nov 12: That happens quite frequently, but the important thing is that in the big scheme of things, the results are great all-around. The overwhelming odds are that your baby does not have Down syndrome. Best wishes for the rest of the pregnancy. Dr T

   

• At Thu Nov 27, 05:04:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Nov 12: Under these circumstances there is a better chance that the defect will heal over than if she spontaneously ruptured membranes from some other cause. Around the world there are some individuals skilled at identifying the defect and sealing it over, but that procedure carries its own risks of complications. As long as the baby continues to have some fluid around it and does not develop an infection, the outcome is truly unpredictable. I have seen some good outcomes for the baby under these circumstances and some poor. If the baby loses all its fluid before 20 weeks, the outcome is usually very bad. Even if the baby gets to a point where it might survive, the lungs are often so under developed that the baby cannot survive. But even that is not a certainty under these circumstances. My heart goes out to you and your wife and I hope things turn out well. Kind regards, Dr T

   

• At Thu Nov 27, 05:07:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Nov 16: Your age alone risk for Down syndrome in first trimester is 1 in 75, so the real question to you is how does the 1 in 372 look and feel. Having you ask yourself that question is the best advice I can give! Many women in your shoes will simply opt for a 'genetic sonogram' at 18-20 weeks because if that is reassuring, your risk is reduced another 60-80%! Let us know what you decide and how things turn out. Best wishes! Dr T

   

• At Thu Nov 27, 05:16:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Nov 19: My first question to you was going tobe did you have either first trimester screening or a quad screen done - either of those can give a more reliable estimate of risk than that based on age alone. Results from either of those studies could then be used to weigh the risk of any markers of aneuploidy such as pyelectasis. Honestly, I am not overly impressed with unilateral 'pyelectasis' of 3.9mm for ANY reason. The chance of Down syndrome may be increased, but no more than 1.5-fold, and the odds of a significant abnormality of the baby's urinary tract are also quite small. You will have to ask the doctor who would perform an amniocentesis what he/she considers to be their risk of the procedure to balance the odds. Regardless, the odds are in your favor that the baby does NOT have Down syndrome. If you are concerned about the kidney findings, ask your doctor to look again at 26-28 weeks. And, if he/she is not willing to do that, then ask for a referral to someone who will. Best wishes. I bet everything is going to be just fine. Dr T

   

• At Thu Nov 27, 05:19:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Nov 19: That is a high risk for Down syndrome and somewhere between 3 to 10 times higher than the risk of amniocentesis. The standard of care would be to offer you that procedure. But as you stated, the final decision in that regard is up to you. I do NOT know what I would do if I was placed in the same situation. Best wishes and let us know how things turn out.
  Dr T

   

• At Thu Nov 27, 05:21:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Nov 20: I would not have changed it to that high a risk that late in the pregnancy. I am betting the baby is just fine! Let me know if I am wrong when you get the amnio results back. Dr T

   

• At Mon Dec 01, 08:27:00 AM 2008,  Anonymous said…

  Thank you Dr. for responding. I got the results of the amnio the day before Thanksgiving and everything is fine! They did not find any chromosomal defects. If/When we have our second child, I am declining all screening tests. This has been a very stressful pregnancy.

   

• At Tue Dec 02, 03:22:00 PM 2008,  Anonymous said…

  Dear Dr. T,
  
  I am also worried about whether I should go forward with amnio. I am 37 yrs. old (will be 38 at delivery) and I am right now 14th week pregnant. My first trimester screening indicates that I have a 1/482 chance of down. I am worried about the odds of a down baby but I am also aware of the risk associated with amnio. My husband and I conceived through ivf so this is truly a miracle baby to us. We are torned as what to do. Any advice would be greated appreciated!
  
  katie

   

• At Wed Dec 03, 01:45:00 AM 2008,  Anonymous said…

  Dear Dr,
  During my wife's (34 yrs old) 20th week anomaly scan, preauricular tags/pits were detected (2 and 3 on either ear). The doctor recommended repeat scan after 4 weeks and amniocentesis. She said that there is a possibility of Cat Eye Syndrome or other genetic disorders possibly related to Chromosome 22. Rest of fetal features are all normal. We have a daughter of 5 and a previous misscarriage. My wife and I do not want to undergo the risk of miscarriage due to this procedure. Also, even if the results reveal any kind of genetic disorder, we want to go ahead with the pregnancy. What do you advise? Are preauricular tags reason enough to go for an amniocentesis?
  Thanks
  Anonymous

   

• At Thu Dec 04, 05:26:00 PM 2008,  Anonymous said…

  I am 39 and 20 weeks pregnant with my 2nd child. At my first appointment at 8 weeks, I inquired about an amnio. I was informed of the risks of the amnio and was offered the ultrascreen test so that I could make an informed decision about whether I wanted to risk the amnio. My combined risk ratio was given as 1/900- pretty good for my age. Based on that number, we decided not to risk the amnio. Then, at our 20 week targeted ultrasound, an echogenic intercardiac focus was discovered. The Dr. now says my adjusted risk is 1/500 (over 40% increase) and offered the amnio. I am very confused. I don't understand how my ultrascreen result can be negated when that was explained as an accurate and reliable tool to decide about the amnio. If I go with the amnio now, I will be 22 weeks and any decision making process regarding the pregnancy has been taken away as I will be too far along. I am worried sick and don't know what to do. Thank you in advance for your reply.

   

• At Fri Dec 05, 09:32:00 AM 2008,  Anonymous said…

  I am 39 and 21 weeks pregnant with my 2nd baby boy. Because of my age, I inquired about the amnio at my first appointment at 8 weeks. I was informed of the risks of the amnio and given information about the Ultrascreen test. I was told that the result was very accurate and reliable and that I could use the results to make a better informed choice about the amnio. My results came back at 1/900- pretty good for my age. Based on this, we decided against the amnio. Later, at our 20 week targeted ultrasound, we were informed that the baby has an echogenic focus on his heart and that this finding increases the risk of down syndrome. Our number went down some 40% to 1/500. I am confused and scared. I don't understand why we were not informed that the risk number we were given to use as a basis for our decision about the amnio could later change depending on other variables. Now the Dr. has offered me the amnio to be scheduled at 22 weeks. I am concerned that this is too late to make any reasonable decision, as I would be too far along to consider any options. I am conflicted about whether I should risk the amnio at this point, but also worried sick to the point that I am not sleeping and crying everyday. Any insight is greatly appreciated. Thank you.

   

• At Thu Dec 11, 08:52:00 AM 2008,  Anonymous said…

  Dr. T:
  I'm 33 yrs old & 18 weeks pregnant with my second child (first child is a healthy 13-year old). Did not have the 1st trimester testing but had a quad screen at 16 weeks and just got results back-1:4996 for Down, but my AFP, hCG and uE3 were all low for gestational age, weight and race-thus triggering elevated risk for trisomy18. Dr. did not give me exact numbers but I am scheduled for level 2 u/s and possible further testing. My question is should I be even more concerned that dr. did not give me exact risk ratio-Hubby(same dad as 1st child) and I are freaked out right now so any info is appreciated. Thanks.

   

• At Fri Dec 12, 05:16:00 AM 2008,  Yas said…

  Dr T,
  I am 25 years old and its my first baby.
  All the first tests came back perfect, the blood and the measuring of the neck was normal.
  Then they found a white spot on the heart, that sent us to the genetic dr. They spotted a sandal gap (i have a sandal gap and so does my mum) and the cartlidge of the little finger is smaller then usual. so 3 soft markings.
  We did another blood screening test and those came out normal, we also measured the bones and the baby seems to have legs longer then normal actually.
  I am from South Africa but have german and greek blood and my husband is from the middle east.
  We really cant live with a down syndrome child,
  (we feel its not fair for the child or us) would you say with the information that i gave you that we have a risk of down syndrome and should i do the amnio. Our probability has been quoted as in 1/7500.
  thank you so much

   

• At Fri Dec 12, 08:29:00 AM 2008,  Anonymous said…

  I am a 37 year old pregnant woman. This is my second pregnancy. the first was a chemical pregnancy and I miscarried very early on. This time with my age and the number factors for all the genetic concerns have overwhelmed me and quite frankly caused me to make myself ill worrying about them. That having been said. I have some elevated risk concerns. I have a large fibroid tumor on the outside wall of my uterus. The baby is above this and the doctor says that is where I should want it to be. The risk for miscarriage is greater however I am told with the tumor. I tested positive as a carrier CF this past week and now I am worried that with all the other factors that perhaps I should opt to have the Amnio even though it will increase the odds for miscarriage for me. My husband and I are extremely excited... we had almost decided that we would only have children if we adopted, after our over 10 years of marriage. Can you help me!? I am up at night a lot worrying and sick over all of this.
  
  I am not 100% certain I should be asking the doctor, the practitioner nor the nurses or techs..... Being new to all of this... I am completely at a loss and the panic has over ridden my mind completely.
  
  Thank you for any help you might offer.....
  
  Completely freaked out newbie

   

• At Sun Dec 14, 08:36:00 AM 2008,  Anonymous said…

  I have a question, not a comment, so I'm not sure if I'm leaving this in the right place on the website. We went through years of fertility treatments (IUI and IVF) to get pregnant with our son, who is "perfect" and about to turn 3. I am now 42 and we were shocked to learn that we are pregnant again. I will have just turned 43 when our second baby is due on May 20, 2009. Our 1st trimester NT was normal and we declined the 1st trimester blood screening. But my 2nd trimester AFP came back with a "greater than 1 in 10 chance of Down syndrome" (the highest possible risk category, and an incredibly broad range of risk: anywhere from 10.1% to 99.9%???) The followup ultrasound was unremarkable, except that the perinatalogist is 98% sure it's a girl. I declined the amnio because of the risks of miscarriage and the fact that we will have the baby whether or not (s)he has Down. I am a SpEd teacher, so have worked with Down kids for years (well, before amnio became so prevalent and the # of kids in my classes with Down dropped precipitously. Now I am agonizing over whether or not to risk the amnio, just to know. Thanks for your help.

   

• At Wed Dec 17, 11:34:00 AM 2008,  Anonymous said…

  Dear Dr. T,
  
  I am 34 years old about 14 weeks along and will be 35 in Jan 2009. My due date is in June 2009. I am very torn between having amnio or not. My nuchal and ultra screen tests were very reassuring at 1/3700 for DS and <1/10000 for T13 and T18. However, my OB tells me a horror story about a patient of his that did not do the amnio, who had good bloodwork/ultrasound results and had a DS baby. Granted she was 42, but it scares the bajesus out of me. My husband doesnt want to take the risk of our baby miscarrying because of amnio. I am afraid of DS. We live in NYC and have access to some of the greatest OBs and experienced doctors...what is your advice? Should I do the amnio or no? Thanks! Scared in NYC

   

• At Sat Dec 20, 09:49:00 AM 2008,  ShannonK said…

  First off this blog is helping me a lot in my decision to have or not to get my amnio.
  
  I an 23 yrs old and 16 weeks along. I got my Quad Screen back and and had my ultrasound. By those results my doctor gave me 1 in 24 chance that something could be wrong.
  
  Please tell me your opinion

   

• At Sat Dec 20, 08:31:00 PM 2008,  Anonymous said…

  Hi everyone. This is my first time writing so excuses me if I am not explaining myself enough. I am 25 years old and 20 weeks pregnant I just found out that I have cin3 carcinoma and that my baby has a 1out 25 chance of spinal bifida. I am schedule to have a level 2 ultrasound and an amniocentesis done. I am worried that if the baby comes out with a high risk birth defect that because of my medical condition i will not be able to take care of a special needs child. Am I over worrying or are my worries legitimate.

   

• At Mon Dec 22, 05:28:00 PM 2008,  Anonymous said…

  From Anonymous 42-year old on blood thinners:
  
  I am 42 years-old and 13 weeks pregnant (first child). I had several miscarriages prior, but was diagnosed with MTHFR homozygous for C677 gene mutation and am now on blood thinners. My Ultra-Screen First Trimester Screening Report came back (after screening) as 1:881 for Downs and 1:1,641 for Trisomy 18/13. Free Beta HCG (MOM) was 0.62, PAPP-A MOM was 1:28 and Delta NT was +0.08.
  
  At my age (even with good results from Nuchal fold/blood screening), doctor recommends amnio but I am concerned about 1) going off blood thinners for one day + to do this and 2) Rh incompability with baby (my husband is O+ while I am A-). She recommends a specific doctor for the procedure who is very experienced. I am worried about invasive procedure that could trigger a miscarriage. What do you think?

   

• At Tue Dec 30, 07:57:00 PM 2008,  Anonymous said…

  I will be 33 at EDD and 18 weeks pregnant with my second child, it is a boy. I have a perfectly healthy 21/2 year old girl. My first pregnancy was normal.
  My triple screen test done at 15 weeks and 5 days came back positive for DS. My risk is 1/261. My test results were as follows: AFP=24.6, hCG=56890, uE3=0.67, OSBR risk 1 in 10,000, T18 risk says not increased. My OB/GYN sent us to a perinatologist for a Level II U/S at 17 weeks. They were not able to see the heart well so we are going back tomorrow. Everything else looked good, the baby measures fine, but I the doctor told us that we have single umbilical artery. After asking him, what that meant, he just said that the baby may be born with low birth weight, so I did not worry that much. When I got home and I googled SUA, I freaked out. We still have to wait until tomorrow to have the heart checked. I was sure I did not want to have amnio done, if the ultrasound looks good, but after reading that the SUA is linked to chromosomal abnormalities, I am not sure anymore. I am thinking that if the heart looks good, I will not have the amnio done, but the SUA is hanging over my head and I can't sleep at night. Can you please give me your input? One minute I feel like I have to know, and the next I am not sure, since I don't want to miscarry a healthy baby.
  Thank you, Silvia

   

• At Fri Jan 02, 02:30:00 AM 2009,  Anonymous said…

  Hi,I am now 18.5 weeks pregnant with my second child, and had an amnio 2.5 weeks ago. Two days after my amnio my obstetrician rang me saying that the FISH test had only picked up 1 sex chromosome, being an X, and therfore the FISH suggested that my baby could have Turner Syndrome (45X0). We were in absolute shock, but had to wait for the final amnio results to come through before we could take any further steps. We had a genetic couseling session and were told to go home and think about what we were going to do ones test got confirmed.We had an awfull christmas. I decided to keep the baby if the heart and kidney condition would be reasonably alright, while my partner preferred to terminate. On the 31 st of December we had to come in for the final results. Amazingly, the obstetrician told us, the amnio results turned out to be perfectly alright, and the baby is BOY!! She told us this is only the second time in 25 years they have had a false positive for Turners. Now I know I should be over the moon, but I cannot come to terms with this outcome. I have read thousands of articles on Turners Syndrome and have only read of a few false positive results from FISH tests, 8, to be exact and out of those 8 there was only one that was a boy, 7 were girls! (the second X chromosome was overlapped by the other). Could it be that the whole test had been wrong??? How could FISH not pick up the Y chromosome?
  
  Are there any known cases where amnio had gender or other diagnoses wrong?? I just can't get to terms with it. I know I sound ungreatful, but I just find it so hard to believe.

   

• At Sun Jan 11, 07:49:00 PM 2009,  grateful for advice said…

  Dear Dr. Trofatter,
  I am 39, nearly 15 weeks pregnant and recently presented with an elevated risk of DS (1:210) following first trimester screening.
  
  Results follow: HCGb 1.99 corrected to 2.14 MoM; NT 1.56 mm MoM 1.12; PAPP-A 0.56, corrected MoM 0.68. Gestational age at sample date: 12 weeks 3 days (from LMP 11 weeks 5 days), CRL: 59 .
  
  I understand that on the basis of the tests that it would be advisable to carry out amniocentesis, and wondered whether you might be able to tell me what you think, and as well to offer your advice on a question I have about testing centres. I am not living abroad, being seen by a hospital with a good reputation, but they carry out a low volume of amniocentesis annually (70 last year, with one miscarriage possibly as a result 10 days after the procedure), whereas in another city there is a testing centre that carries out c. 40 amniocenteses a month, and estimates their risk rate is 0.25 %. On the basis of this information, if you are in a position to say whether it might be advisable to travel to the centre that carries out more procedures, I would be very grateful. I must thank you greatly for the invaluable resource and comfort your blog and responses have been on the subject of first trimester testing. They have helped me view my test results in a more realistic light. Katherine

   

• At Wed Jan 14, 08:36:00 AM 2009,  Anonymous said…

  I had an amnio yesterday. The doctor tried twice but could not get enough fluid because the placenta was in the way. They took blood for a quad test just in case I don't want to try a third amnio. I'll be 38 when the baby is due. If my quad test comes back good do you think the risk of third amnio is greater than the chance of having a baby with an abnormality. I have had 3 healthy babies and 3 miscarriages with causes unknown.

   

• At Wed Jan 14, 04:43:00 PM 2009,  Anonymous said…

  My wife is 32 yrs 4 mths old and currently in her 15th week pregnancy. We had terminated a pregnancy last April due to Trisomy 21 but our first child currently 3 yrs old is perfectly a healthy boy. Our Dr. had scheduled an amnio next week and no blood test had been performed so far, but the ultrasound scan on NT seems normal with ~2.5mm at 13th week. Our concern is:
  1)Will the previous DS pregnancy significant increase the DS risk in the current pregnancy?
  2)Is that a must to perform amnio test because of we had past history of DS pregnancy?
  3)And how accurate the triple test is? Can we bypass amnio test if the triple test shows low risk to DS?
  Hope to hear from you soon. Thanks.

   

• At Sun Jan 25, 09:00:00 AM 2009,  Syl said…

  Thank you for this blog and sorry for appearing in this post so late. I am a 35 year-old 22 weeks 3 days pregnant with a girl. My first trimester screens put me at a low risk for DS and other trisomies (1:2815 NT and 1:7000 bloodwork for Trisomy 21). At my 20 week ultrasound they noticed an EIF and also that the baby was measuring smaller than average (8th percentile). I myself was a small baby weighing 2.7kg at birth. The genetics specialists recommended an amnio saying that (as yet undiagnosed definitively) IUGR and EIF and my age placed me at 20% risk for having a baby with Down Syndrome. I had an amnio and am waiting for FISH results. Meanwhile, I am frightened that my baby will die in utero due to the amnio...
  Was the amnio warranted? Are my risks really as high as 1:5?

   

• At Sun Jan 25, 10:55:00 AM 2009,  Anonymous said…

  Dr. T -
  
  Thanks for this great service you provide!
  My husband and I are at a very tough decision point in terms of whether or not to go through with an amnio next week. My first trimester screening numbers came back showing an increased risk for DS (1:268), and the quad test showed 1:150 for DS. The numbers for the other Trisomy 13/18 came back at 1:10,000. We had our 18 wk US with the perinatologist last Friday, which showed a seemingly normal baby girl with a slight Choroid plexus cyst on one side of brain, which doc said was very common in normal babies as well as being a soft marker for DS. Everything I've read indicates it being more related to Trisomy 18, which we tested negative for.
  I suffered a miscarriage 7 months ago and am so scared with going through with the amnio. Any thoughts? Am I too on the risky side to decline the amnio?

   

• At Fri Jan 30, 05:23:00 AM 2009,  Carrie said…

  I am a 41 year old female currently 10 weeks pregnant. I have three healthy teenagers at home, one daughter who died in 92 from Tetrology of fallot and one T-21 pregnancy which was terminated at 22 weeks in 2006. My dr is recommending a CVS at 12 weeks in the hope of getting results back sooner that the 14 week cut-off for voluntary termination (French law). I had what I think of as major complications during my premature induction (medical termination) at 22 for my T21 pregnancy: 3 full days of hard labor with no progress, followed by the dr basically pulling the baby out with her hands, retained placenta, and bleeding for three months until the remaining piece of placenta became necrotic and resolved itself (they called it an acreta, my 2nd time it occurred). I would like to avoid the CVS, have the NT done and blood tests done and if all appears normal, wait for the level II us which could look for the presence of soft markers but I am scared of going through what happened before. At what NT measurement would you consider it a reasonable risk to proceed with minimal intervention at this point. I would like to err somewhat on the side of having a baby with a problem as opposed to miscarrying a genetic normal baby.

   

• At Sat Jan 31, 11:21:00 AM 2009,  Anonymous said…

  Dear Dr T
  
  This is an amazingly illuminating site, thankyou so much for putting the time in to answer people who clearly have worries on their mind.
  
  My query is related to Amnio, but perhaps premature. At 8 weeks pregnant I have just discovered that having the Antibody Ro in my system (I have a non SLE autoimmune disease which manifests itself as a vasculitis purpurric leg rash, pretty mild these days since managing with lifestyle and diet).
  
  My concern at 36, with both my partner and I being only children from two different continents, is that the lack of siblings, cousins, aunts, uncles, nieces, nephews etc - indeed ANY family for support other than our mothers currently in their 60's - and the inevitable dragging back and forth of any children we have between Ireland and America, would be distressing and irresponsible were we to have a child with serious special needs such as Downs, including the need for routine.
  
  I had researched amnio to distraction and decided the chance of a baby who would not grow into a dependent adult would be worse for us than a miscarriage, even though that would also be hard to bear, regardless of how optimistic the early screening results might be.
  
  I have yet to have screening tests, but I would like to know if I am foolish to proceed with amnio should my results come back low risk, bearing in mind the complications this pregnancy may already have ahead. And could the Anti Ro factor affect Amnio outcome?
  
  My horror of loosing the baby post amnio is matched and doubled, or quadrupled, by that of not knowing potential issues such as Downs until the birth itself. Trying to stay positive! I realise this is a very specific query but your calming advice is so reassuring!
  
  Kind regards.

   

• At Wed Feb 11, 02:03:00 AM 2009,  Anonymous said…

  Hi doctor. My name is Jacqui. I'm in Australia and had combined ultra sound and blood test in first trimester and was given a ds risk of 1/480. I'm 31 and this is my first pregnancy. I'm just 13 weeks. I would terminate a ds pregnancy and am considering an amnio. My ultra sound had a good result but my blood had a result of 5 x the normal amount of beta hcg. Would you recommend the amnio based on the fact that I would not cope with a baby born ds?
  Thank you so much for your time.

   

• At Sun Feb 22, 07:35:00 PM 2009,  Teresa said…

  Dear Dr. T,
  I have definitely enjoyed reading your column and have learned a lot from your responses to the women on this site.
  I am a 39 year old woman who had the Nuchal scan along with bloodwork and had a 1:1821 chance of trisomy 21 and a 1:3051 chance of trisomy 13/18. I am pleased with these numbers, but am still worried about the false negatives associated with this test. Can you tell me does the false negative rate bring these numbers down and if so do you know by how much? I was told there was a 9% chance that the test was innacurate or would produce a false negative.
  Also, do you know the highest test result a 39 year old can have? I would assume 1:10,000 is too high because age alone would bring it below that.
  
  Thank you so much
  -Teresa

   

• At Sat Feb 28, 12:13:00 PM 2009,  Anonymous said…

  I am 41 and 12 weeks pregnant. My risk for downs came back 1/800 and risk for other trisomy 1/1200. I don't know the exact measurements but the NT 1 or slighly under and the genetic counseler said the other levels were normal (around 1). We did have a twin that did not develop, never saw a heart beat but my doc said there is still placental tissue. Could this scew the results of the first tri screen?

   

• At Thu Mar 05, 09:22:00 PM 2009,  Anonymous said…

  Hi Dr,
  I found your website yesterday after I got a call from my DR that my first trimester screen came back abnormal. Im am a 29 year old super healthy, active 14 week pregnant woman. I have no history of any birth defects on either side of my unborn baby's family. My DR called me yesterday and told me that a normal 29 year old has a 1 in 1000 chance of having a birth defect, but based on my blood work I have a 1 in 75 chance in having a baby with Downs. I am so confused, should I get an amnio, I know there are risks, but Im reading 1 in 75 are alot higher than most of your posts from other readers. Please help me I am scared and confused and could really use some advise. Thank you in advance.

   

• At Fri Mar 06, 08:42:00 AM 2009,  Anonymous said…

  I am 16 weeks pregnant. This is my second pregnancy and I am 27yrs old. My first baby was born fine and the quad screeen was negative. For this pregnancy the quad screen was made when I supposedly was 15 weeks and 5 days. They called meand said that the result were high for Down Syndrome. Yesterday I was scheduled for an ultrasuond because they were sure that the dates were wrong for my due date. After the ultrasound was made the doctor told me that the measurements for the baby at this time were 15weeks but that she wasn't able to change my due date because there was only 8 days difference from the original due date and it has to be 9 days or more in order to change the date. She told me that the chance of having a normal baby was 98%. She recommended the amnio but I am not sure of the procedure. She told me that she still think that due to my history the dates are wrong but she cannot give me an anwser without the amnio. The baby looks fine just a little small for 16 weeks. He weights 4oz and I think it is normal for this period. I am extremely concerned of having an amnio and then a miscarriage and that at the end my baby is normal. Could the quad screen be done a second time and are there any chances that the results may vary due to the problem with my dates? I want to be sure that my baby is fine, but in teh other hand I wouldn't want to risk my pregnancy. My husband recommended me not to do it but i have doubts. What would you recommend at this point? Thank you

   

• At Mon Mar 09, 02:00:00 PM 2009,  Anonymous said…

  I'm 35 yrs old, first time pregnancy and carring fraternal twins - at week 12 I had an U/S that revealed one baby with a .9 mm NT measurement and one baby with 3.0mm NT measurement. That same day I had the blood work done to assess the risk factor for Downs - once we rec'd the results, we found that one baby with the 3.0mm has a 1/130 chance of having Downs and the other has a 1/4941 chance. During this U/S they informed us that the nasal bone was present (from which I understand is a good sign). I am currently in my 15th week and still have to wait several more weeks until they will do the 20-21 week U/S. It is just hard to see both measurements next to each other and not worry about the one baby with 3.0 mm NT neasurement. Should I be worried??

   

• At Mon Mar 09, 02:49:00 PM 2009,  Anonymous said…

  Dear Dr. T,
  
  I have enjoyed reading your blog. Your comments and advice are very helpful. It's also comforting to know that I'm not alone. I just received my quad marker test results which gave me 1:130 chance of having a baby with Trisomy 21. I am 32 with 2 boys (ages 4 and 1.5) and these results seem incredibly high to me, so I am so scared. I know that I still have over a 99% chance to have a healthy baby, but it doesn't seem possible at my age to have such a high risk for a DS baby. I have an US scheduled for next week and they said I could have an amnio after if I choose, but I am very scared to lose a perfectly normal baby just to ease my mind. Any comments you have would be appreciated. Thanks for posting this information. It has helped to somewhat ease my pain.
  JC

   

• At Wed Mar 11, 05:00:00 PM 2009,  Anonymous said…

  I just came back from my 20 weeks ultrasound. They found 6.4mm transnuchal in the baby, everyhting else seems normal. From the down's syndrome ultrasound and blood work at 14 weeks my chances were 1 in 7000. But with this ultrasoung it increases by 20 times..so now it's 1 in 350. I am not sure if i should go for amnio, I did read up about it and looks like it carries its own risks. But I defintely want to know for sure if the baby has DS or not. Baby's heart looked normal but i am scheduled for detailed heart ultrasound after 1 week for any minor defects. Can you please suggest the best approach here?

   

• At Tue Mar 17, 02:47:00 PM 2009,  Anonymous said…

  I will be 2 months shy of my 40th b-day when I am scheduled to deliver my second baby. With my first (at age 37) I had a first trimester screen with NT and the results were 1/1337 for Trisomy 21 and 1/6000 for Trismony 13&18. I didn't do any additional screening and my daughter is perfect and healthy.
  This time my first trimester screen and NT result came back with a risk of 1/192 for Trisomy 21 and 1/3421 for Trisomy 18/13. I had HCG = 1.28 and Papp-A MOM = 0.61 with NT(mm) = 2. I was devastated by the 1/192 (especially since the first time they ran it they put in the wrong CRL and came out with a result that was 2.5 times less risky so when they corrected the CRL for 12w2d and blood draw date of 10w0d, my risk more than doubled. Now my husband and I are torn. My last pregnancy was frought with "irritable Uterus" and I was on modified bedrest and turbuteline from about 28 weeks until just shy of 37 weeks. I came of the meds and had the baby at 37.5 weeks. I want the amnio to ease my mind because I know I can't raise a special needs baby, but I'm so scared of the complications if my body/uterus will react negatively and start to contract and I could rupture or something. My facility says the risk for them of amnio complications and loss is 1 in 300 to 1 in 500. But given my history I wonder if I have a larger risk?? My worst nightmare is to lose a totally normal baby because of my decision to do an amnio. Please help me with some thoughts/advice. I'm so scared I have been in tears for 2 days since getting my test results.

   

• At Tue Mar 17, 02:53:00 PM 2009,  mama2be said…

  Hello, i am 22 yrs old and will be @ the delivery. I am 19 weeks along now. I took an AFP test which is nagative @ 1:300 risk, high for my age. I went in for a
  3D ultrasound @ 18 weeks 6 days the dr saw an echogenic focus on the heart. No one in my family nor my husbands has D/S. I'm very nervous and I am going in for an amino tomorrow. I don't know if this is the right thing but i want to know how big is my risk of having a baby with D/S

   

• At Sat Mar 21, 07:40:00 AM 2009,  Sam said…

  I'm 19 years old, and pregnant with my 2nd child. At 18 weeks & 2 days, had the "optional" abnormalities testing done. After a doctor call 5 days later, I got an ultrasound at 19 weeks and discovered my unborn son has Gastroschisis; a small opening in the abdominal wall in which case the bowel and possibly other organs are outside and float in amniotic fluid. It has a 96%+ survival rate and can be fixed in one surgery immediately after birth.
  
  In my son's case, currently with me being 21 weeks & 3 days gestation, there's a "normal" amount of bowel outside the body, but no other organs. And no other complications/problems.
  
  I was told they were going to do an amniocentesis at 34 weeks to check for lung development in case they decide to induce me early.
  
  I'm just needing to know, with being in the third trimester, what are the risks of having an amniocentesis done? Can the baby be injured by the needle? What is your professional opinion on what I should do in my situation?

   

• At Wed Mar 25, 02:07:00 PM 2009,  Karrie &amp; co. said…

  I have a question for Dr. Trofatter. I am 36 year's old and pregnant with baby number 3 (first two are perfectly healthy). I had some spotting early on in my pregnancy due to a sub-chorionic hematoma. In a follow-up scan (at ten weeks), we were told the baby had a cystic hygroma, and we were sent to a maternal-fetal medicine specialist. He reclassified the condition as a nuchal fold thickening (not a cystic hygroma). Results of our nuchal fold screening put my our risk for T-18 AND T-21 at greater than 1 in five chance. My husband and I have decided to keep the baby, regardless the condition, but we feel the need to be prepared, esp. if the baby has T-13 or T-18 and lives for only a short time.
  We finally scheduled an amnio for April 15th (I'll be 16 wks and 2 days), but I am so worried that it could hurt the baby. Is there anything else we can do to help clarify which of these syndromes we are dealing with? I'm okay with not having complete certainty, but I'd like to have some sort of an idea of what we're dealing with.
  Thank you for your consideration.
  Karrie S.

   

• At Tue Apr 21, 06:51:00 PM 2009,  Anonymous said…

  Dr T. I am 38 (will be 39 in August, baby is due October 16) and received a first trimester screen result of 1:1900 for DS & 1:10 for Trisomy 18. The nuchal measurement was 1.8, CRL was 7.02 at the scan which was done at 12w4d based on my IUI date. The tech put me at 13w1d at the date of the scan based on the CRL measurements. We are tentatively scheduled for an amnio in a week. I don't know if I really want to do this or wait until I do a Level II u/s. Would you recommend the amnio first, or wait until additional markers for T18 are detected on u/s before proceeding with the amnio. I had a first trimester loss at 9 weeks about 6 months ago due to alloimmunity issues and currently take Lovenox injections everyday for this. This is a fertility baby and I do not want to risk losing this baby if doing the amnio first is not warranted. I have a healthy 12 year old and healthy 20 month old. There are no known genetic issues with either side of our family.

   

• At Tue May 05, 09:19:00 PM 2009,  Anonymous said…

  I am 28 years old and a mother of four. I have had blood test done saying that I have a 1/40 chance of having a baby with ds. I went to my ultra sound on monday. My nuchal fold was 6.6mm.Which gave me and 1/2 risk for down syndrome. I am about 22 weeks pregnant. I am very worried. I am about to have an aminocentesis done. I just wondering is there anything you could tell me

   

• At Mon May 11, 06:30:00 PM 2009,  Anonymous said…

  I can't tell you how happy I am to have found this blog. My daughter is 34 and will turn 35 just before the birth of her baby. Her first trimester screenings were excellent -the nt scan and presence of nasal bone. Her integrated tests gave her a 1 in 10,000 chance for ds and even better for trisomy 18. She saw a perinatologist for her 18 week anatomy scan and it was discovered that she has a 2 vessel cord and two cysts were seen on the brain. Everything else, including the baby's heart, kidneys, size etc. looked fine and normal. The MD does not feel that her risk is increased for chromosomal disorders but will monitor for kidney issues and growth restriction. I'd be so grateful if you could give me your opinion on this. Thank you so much. Ellen

   

• At Tue May 19, 04:23:00 PM 2009,  melissa said…

  I hope this blog is still being monitored. I am 38, will be 39 at delivery. Today I got my first trimester screen back. It said my risk was 1/22. I am devastated. My nuchal fold at 11 weeks 1 day was 2.0, so I felt reassured, but today the bloodwork came back which is not reassuring. My doctor is asking the lab to recalculate the risk becasue my weight was listed wrong as 20lbs heavier and the gestational age was off by a week. It listed 11 weeks 7 days and I was 11 weeks 1 day. My dates are accurate since I did an IUI. Can these 2 wrng measurements make my risk elevated incorrectly or am I grasping at straws? I am terrified to have an amnio. I have had 2 miscarriages. I have a healthy 6 year old son and no family history of any genetic issues. Thank you for your help.

   

• At Thu May 21, 04:04:00 PM 2009,  Anonymous said…

  I had a amnio on May 19th 2009. The first time the doctor stuck the needle in, the needle hit some muscles. I jumped but not from the pain but from my muscular reaction. Once he got the needle inserted, the baby decided she wanted to be right on top of the needle, so after a few minutes and even trying to move the needle around, he had to pull it out. So he tried on the other side of my belly. When he got the needle into my uterus, my uterus started to contract. I felt them but they weren't all that bad. Then my uterus would not stop contracting. He was waiting for it to stop contracting but after a few minutes it wouldn't. At this point my entire uterus was contracting and he asked me if I was ok. I said yes and was like just get what you gotta get and get out. So then he started to move the needle around and then my uterus and cervix was contracing. He told me I was having pretty good contractions and I said yes my cervix is contracting now. He said he was going to stop and he did. Two days later my stomach is very sore but the baby is fine. I saw my regular OB doctor the day after. I am 36 years old and 4 months and 9 days. I will not go back for another amnio BUT if my afp test or any test comes back bad, I will have another done. I have had 3 miscarriages in the past, not due to amnio and got lucky not having a miscarriage with this one. I beat the odds this time. Next time I may not be so lucky. The doctor that done my amnio, who has been in practice for 27 years, said this is th first time he has had this to happen. Wow my luck huh?! I just want to share my experience with other women. I am not scarred for life due to this but I do have a second thought about it. Noone told me that a amnio could go like this but mine did. I just want to help the next woman who may have a similar experince. My email is deesa72@yahoo.com

   

• At Sat Jun 06, 09:10:00 AM 2009,  Anonymous said…

  Hi, I am 33, of east Indian descent and my is of Italian Descent. At 20 weeks pregnant my doc sent me to see a perinatal specialist and genetic counselor because my U/S showed an echogenic focus in the left ventricle. All of my 1st and 2nd trimester testing was normal (blood tests and nuchal translucency) and I had great results. However in the 2nd U/S with the perinatal specialist he also informed us that the baby's kidney's were at 3.9mm (4mm is the cut off for a 2nd soft sign for DS). I was wondering how worried I should be about my baby? I did have an amnio (which went well but I do not have the results yet) but am having trouble really understanding the meaning of these 2 findings.

   

• At Wed Jun 10, 06:17:00 PM 2009,  Anonymous said…

  Thank you Dr. T.
  We had posted a concern due to finding an EIF on our daughters heart during our second sonogram. It was handled so poorly, the doctor was pushing genetic counseling ($400 we would find out later for a ten minute family tree) and after that the push for an amnio came. Even though our risk was still positive, it appeared they played to the increased one percent risk. Even at 98%, we were still catagorized a high risk and "downs" was thrown around freely. We were panicked for months until our beautiful, healthy daughter was born. This site, and the other true professionals that we spoke with, share positive information with us and relieved the worrying. Our family is not big on postings, but we wanted to pass along a thanks for having the site and providing such useful information. You gave us some reassurance during a not so positive time.

   

• At Mon Jun 15, 06:43:00 PM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous June 6: Personally I would NOT have factored the kidneys into the counseling because it is below the cut-off. The EIF is perhaps the weakest 'soft marker' we have for chromosomal abnormalities. If all your other studies were normal, the odds are that this baby is normal. Let us know the final results. Sorry you have been through so much worry.
  Dr T

   

• At Mon Jun 15, 06:44:00 PM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous June 10: Thank you for reading and for the very kind words. I am sorry you had the experience you had and I am also glad everything turned out okay!
  Dr T

   

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