Understanding Interpretation of First Trimester Screening Results
Tuesday, April 22, 2008
Kenneth F. Trofatter, Jr., MD, PhD
• At Thu Apr 10, 05:39:00 AM 2008, Anonymous said…
I am 40 years old, 11 weeks pregnant by ICSI (intracytoplasmic sperm injection) and very worried. Can you please help me to understand these results (MoM?) taken 10+3 week.
PAPP-A: 1169,58 mU/L
free beta hCG: 47,40 Mg/l
NT: 2.5
The risk for Down syndrome was estimated to be 1 in 10.
Thank you!•
At Mon Apr 14, 06:02:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…
To anonymous Apr 10: In your case, the increased risk for Down syndrome is probably being driven by at least your age and the relatively increased NT (nuchal translucency) measurements. I cannot comment on the absolute values of the PAPP-A and hCG because I need the multiples of the median (MoM) for these to see how they might be contributing to the overall risk. Let me explain...
Maternal serum markers (in this case the free beta-hCG and the PAPP-A) steadily change as the pregnancy progresses (i.e., by weeks' gestation) and these changes are quite significant during this early part of the pregnancy while the placental tissues are rapidly proliferating. During pregnancies in which the baby is chromosomally normal, the hCG levels begin to drop toward the end of first trimester and then level off and the PAPP-A levels tend to increase gradually throughout the pregnancy. In the case of a baby with Down syndrome (trisomy 21), the hCG levels are often elevated and the difference between chromosomally normal babies and those with Down syndrome increase as the pregnancy progresses. Earlier in pregnancy, PAPP-A levels tend to be lower than normal in Down syndrome, but the difference between chromosomally normal babies and Down’s babies tends to decrease with gestational age. In the case of trisomy 18 (Edwards’ syndrome), both hCG and PAPP-A levels tend to be lower than normal.
Because of the changes in serum marker levels by gestational age, for accurate interpretation of the test results, a different reference range must be used for each week of gestation, depending on when the test is drawn. To avoid the multiple reference range problems and also to standardize test results between different laboratories, whose reference ranges also vary, a MEDIAN value for test results in normal pregnancies is determined in each laboratory for each week of gestation.
If one arranges all the numbers in a set of data from the highest to the lowest values, the ‘median’ is the number in the middle of the data set. It is not the ‘average’ or ‘mean’ of the dataset. The median is primarily used for skewed distributions and it is seen as a better indication of central tendency than the arithmetic mean. It specifiaclly helps to provide a more robust measure of ‘central tendency' in datasets that contain outlier values. For example, if you have a dataset that contains the 9 numbers (2, 2, 2, 3, 3, 3, 4, 5, 21), the median would be 3 (the fifth number, but the arithmetic mean would be 5.
Anyway, a patient's maternal serum marker results are then expressed in each laboratory as multiples of the median (MoM), rather than as a raw 'marker' concentration. It has been found that maternal weight, maternal race/ethnicity, smoking, and maternal diabetes mellitus (insulin-dependent) variably affect maternal serum marker value. Most laboratories today correct the MoM for these conditions so that a given MoM value accurately reflects the risk of abnormality. Laboratories request that information related to these conditions be included, along with the gestational age, when the specimen is submitted. There is sufficient data available now that these 'corrections' improve the reliability of the screening tests. All this is done by computer analysis of very large data bases, so I am not able to push the numbers with my own little brain!
Thanks for a good question and I hope this helps you understand your test results better.
Dr T
• At Mon Mar 31, 08:39:00 AM 2008, Anonymous said…
Dr. Trofatter,
This posting is timely as I have just received back my results of the first trimester risk assessment and was found to be ‘screen positive’ with a risk of 1 in 33 for Down's. My baby’s nuchal translucency was 1.7mm, there was a nasal bone present, my free beta-hCG was 2.43 MoM, and the PAPP-A was 0.48 MoM. I'm trying (unsuccessfully) to focus on the 97% chance that my baby is fine. I elected not to have CVS because I received my results too close to the end of the 12th week to have sufficient time to decide, so I've deferred to having an amniocentesis in 3 weeks. My question is why 32 of the 33 women will have a normal child but still have abnormal lab values? Also, can more credence be given to the blood tests or the ultrasound in having predictive value or do all receive equal weight in determining risk?Thank you for your time. I enjoy your blog very much.
• At Fri Apr 04, 07:37:00 AM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…
To anonymous Mar 31: The different variables (maternal age, hCG, PAPP-A, nuchal translucency, etc) are given variable weights when factored into the risk assessment and that evens varies with gestational age (as detailed in the response above). I do not know exactly how that is determined and rely entirely on the large database that we all use when we perform these studies. The reason more 'screen positive' women will actually have a "normal" baby is one of the primary downsides of a SCREENING test rather than a diagnostic test. Screening tests are valuable if they have low false negative results (in other words, they point to the possibility of an abnormality), but the trade-off is a comparatively high false positive rate.
In the case of first trimester screening, if you are "screen positive (abnormal)" it is unlikely that a baby with trisomies 21 or 18/13 will be missed and that gives you the opportunity to have a diagnostic study done that will actually rule in or rule out the abnormality. In contrast to popular opinion, good screening tests do help reduce the number of diagnostic procedures that have to be done and help to pick up abnormalities in patients who would not ordinarily be considered 'high risk' by age alone, for example, in the case of fetal chromosomal abnormalities.
Hope this helps. Best of luck to you and let us know how things turn out!
Dr T
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Labels: first trimester screening, MoM, multiples of the median
98 Comments:
At Thu Apr 24, 01:03:00 AM 2008,
Anonymous said…
Dr.T
Dr.T, I am32 years old and I am 7 weeks pregnant. I have a 4 year old and on February 26th 2006 I had a still born. The autopsy found that it was due to Thrombosis of the umbilical cord. I was 38 weeks.After speaking with my doctor he said that the baby died because he moved and blocked the umbilical cord from providing him with oxygen. Since the accident I looked for answers, why did this happen to me? I found a different doctor where after a thrombo-phylia test he found that I am a carrier of mutant Homozygous of Factor XIII V34L.
I was loaded with Vitamin B complex and folic acid 5mg for two months. Now I am pregnant and 7 weeks. I am on Clexane injections 2000anti-xa IU/0.2ml on a daily basis and now on aspirin 75mg daily. The doctor wants to stop the injections and continue with aspiring until 16 weeks.
The doctor also suggested that I eat healthy and not take any extra pregnancy vitamins. I have had a lot of problems with my stomach after the still born (diarrheas’ and weakness) but I have been well and diarrhea free for a year now. I have been on prevacid in the past also for my stomach;
My concern is if this therapy has any site effects that can hurt me or my baby. And please let me know if there is anything else I need to do to make sure nothing goes wrong this time. My body went through a savior shock after the still born and I do not know what I would do if I experience the same again.
At Thu Apr 24, 05:04:00 PM 2008,
Brendamng said…
Hi, today i had my second ultrasound and it was so unusual that i am now searching for answers. first let me give you some history, this is my 10th pregnancy. i have had 3 children one of whom died when he was 4 months old. I also have a bicournate uterus(full division). i had a miscarraige on 26th febuary,erpc was performed. found out i was expecting again 4 weeks later. i have extreme high bp. i had my first ultrasound 1 week ago. there was 2 sacs. sac one had a fetus with a strong heartbeat and sac two there was a flutter. sac 2 was measuring a week smaller than sac 1. dr did not think that twin 2 would develop but rescanned me today to make sure. sac 1 fetus growing fh strong. sac 2 had also grown but inside this sac there was 2 more sacs. no more fh were seen. dr said that she has never seen anything like this and has requested a follow up by someone specialising in early fetal accessment. do you have any idea what this could be? i am nearly 8 weeks. thank you
At Sat Apr 26, 11:55:00 AM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To brendamng: When an embryo is lost very early, the yolk sac will enlarge and "balloon". There is no live baby in that gestational sac. You have what is frequently termed a 'vanishing twin' and since it was lost so early, that baby was probably chromosomally abnormal. If the other baby is normal, there is a very good chance that you will go on and cary the pregnancy. Best wishes and let us know how things turn out. Dr T
At Sat Apr 26, 02:50:00 PM 2008,
brendamng said…
thank you for your quick reply. I have an appointment for us on monday so hopeully i get the same answers. what arethe chances of the other baby being ok? i just ask because my son that passed away 3 years ago died suddenly. when born he was 615 grams. he was ill for along time, he never left the nicu of the hospital. he was on a vent for 11 weeks. when he died he had progresse really well. he was recieving nasal prong oxygen and was taking no meds. the hospital say it as a cot death. the coronor said that bpd was a factor in his death and 2nd that he had a severe metab olic disorder. the hospital claim thatthis was not the case. i do not want to do anything legal about his death but would like to protect myself and my kids for the future. i can neverbring my little boy bac but maybe his death was for a reason. thank you
At Tue Apr 29, 08:37:00 AM 2008,
Anonymous said…
Dr. T,
I am 34 weeks pregnant and have had to have follow up ultrasounds because of a liver calcification that was seen at my 18 week scan. My original nuchal translucency screening test results were..
CRL- 68.5
NT- 2.2 mm
HCG mom-3.99
PAP-A mom- 0.92
The nasal bone was present and based on the blood test, NT measurement and my age the risk for down syndrome was 1 in 705. As I approach the end of my pregnancy I feel growing anxiety due to the need to have follow up scans which have only shown an isolated liver calcification . I am concerned about the high HCG level. I have had a level 2 ultrasound and 2 other follow up ultrasounds. Should I have any reason to be concerned at this point?
Thank you
At Wed Apr 30, 05:58:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To brendamng: You are welcome. I am sorry to hear about your other child and truly wish you the best with this pregnancy. Dr T
At Wed Apr 30, 06:06:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To anonymous Apr 29: In my experience, most isolated liver calcifications, in the presence of normal fetal growth and the absence of congenital malformations are not associated with long-term complications for the baby. I would suggest having your baby's urine screened for cytomegalovirus infection after delivery. I do not know of any relationship between elevated hCG in first trimester and hepatic calcifications either. Hopefully, your baby will do just fine, so please let us know how things turn out - especially if there are any problems. I learn from my readers too! Thanks for writing and best wishes. Dr T
At Wed Apr 30, 06:15:00 PM 2008,
Anonymous said…
Is taking low doses of tylenol (such as infant tylenol) beneficial to the healing of the uterus lining? Or is that something that just has to heal own its own after time?
At Thu May 01, 10:06:00 AM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To anonymous Apr 30: No, I cannot imagine any beneficial effect of tylenol on the endometrium. An antiinflammatory agent (like ibuprofen) may help under certain circumstances, but it depends on what those circumstances are. Why do you ask? Dr T
At Thu May 01, 04:00:00 PM 2008,
Anonymous said…
I read somewhere that taking low doses of tylenol could help in the healing process. I was just wondering how true it was. Of course, you can't believe everything you here. There was no explanation as to why they thought it was beneficial. Thank you for your professional input.
At Fri May 02, 08:13:00 AM 2008,
Katie said…
Hi Dr. Trofatter,
Thank you so much for your blog - this is the only one I found on the web addressing these issues. I am 34 years old, this is my first pregnancy, and I had the tests done at 12.9 weeks.
NT = 2.0mm (1.18 MoM)
PAPP-A = 1.24 MoM
hCG = 3.18 MoM
Nasal bone = present
My risk was determined to be 1/140 for Downs and 1/10,000 for T18.
Unfortunately, due to my move from Hawaii to the states, I have not received this news until now (week 22 of pregnancy). I am wondering what your recommendation would be given that my window for terminating the pregnancy if the baby has Downs is very small.
Also, I had vaginal bleeding in my 1st trimester, could this have impacted why my hcG levels were so high? Why such a discrepancy between my hgc and other measurements?
Thank you so much!
Katie
At Thu May 08, 06:16:00 AM 2008,
olga said…
Dear Dr Trofatter,
Could you please help me to interpret my contradictory first and second trimester screening results. I am 39. I got pregnant by IVF with my own eggs.
FTS 12 weeks result: NT: -.48, Nasal bone present, Down Syndrome 1:985
Second trimester screening 16 weeks
AFP-(MOM)1.1, HCG-(MOM)2.14, UE3-(MOM)0.58, INH-(MOM)2.32 - Down Syndrome 1:10
Ultrasound results are very good without any signs of abnormality.
I found some studies that reported a significant difference in the level of second trimester biochemical markers between IVF patients and spontaneous pregnancies (Wald et al., 1999b).
In DS screening in IVF pregnancies, hCG and uE3 values should be adjusted to avoid the high screen positive rate.
I prefer not to do amniocentesis.
Thank you so much!
At Fri May 09, 08:12:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Olga: You got trapped! With those first trimester results, I would not have recommended doing a 'quad screen.' But, you did and the decision is a lot tougher. Odds are that the baby is normal and that your real 'risk' falls somewhere between the two test results, perhaps because of the IVF as you point out, but I cannot tell you where that risk lies! If you use the second test, even with a normal ultrasound that reduces your risk by 90%, you still will be at 'increased risk'. The final decision is yours and none of us can tell you what is best under these circumstances. You could ask the laboratory to give you the risk using the COMBINATION of the two tests (an integrated risk assessment) and see if that helps. Best of luck to you and let us know how things turn out. Dr T
At Sat May 10, 07:03:00 AM 2008,
olga said…
Thank you doctor for your helpful reply. I enjoy reading your blog.
I feel trapped in the situation and cannot ignore the numbers. Unfortunately, my OB did not volunteer information about the 'quad test' . I thought my blood was tested only for Neural Tube Defects.
My ultrasound doctor gave us combined approximated risk 1:100, which is still in 'increased risk' category. Now we are in a process of making a difficult decision about an amnio.
My husband and I are aware that an amniocenteses are relatively safe procedure but because we could not conceive for a long time I am afraid of hurting our baby.
Sincerely,
Olga
At Mon May 12, 07:03:00 PM 2008,
hea1 said…
Dear Dr. T,
Wonderful blog! A couple questions following my first trimester results:
Age at delivery 37
NT 1.4 mm
HCG 2.23 MoM
PAPP-A .48 MoM
Mis-reported my weight by 35 pounds (?)
Three healthy normal prior pregnancies
I had a somewhat low progesterone levels at four weeks and was placed on 600 mg per day of Prometrium which I stopped at 10 weeks. I also have an egg sized cyst on my left ovary right now. Can these things cause an elevated HCG level? Also, can moving from sea level to 9,000 feet influence my PAPP-A levels? Haven't been in Colorado too long. I appreciate any advice you might have for me,
Thank you,
Worried in Colorado
At Tue May 13, 06:52:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
Olga, at a risk of 1 in 100, one option is to simply wait until you have a good 'genetic sonogram' done at 18-20 weeks. At that point, if there are any fetal abnormalities or significant 'soft markers' for Down syndrome, you will feel more comfortable about the decision to do the amnio and you could have a FISH study done at that time that will give you a result within 72 hours. Odds are in your favor that this baby is fine and this is a VERY important pregnancy (as all are) for you and your husband. Let us know how things turn out! Dr T
At Tue May 13, 08:50:00 PM 2008,
ldattarm said…
Hi Dr. T:
Have gone through many of the threads and can't quite find a comparision for my results. I have also asked a number of questions, spent considerable time and the web and have not really gotten answers to my questions. Hoping that you can help to clarify.
I had the first trimester screen done and have the following stats:
CRL: 65.5mm
Gest Age: 12.7 weeks
NT: 1.2mm, 0.75 MoM
PAPP-A: 0.95 MoM
beta HCG: 1.46 MoM
Age: 44
Screen Risk: 1:135 Downs
Screen Risk: 1:10,000 Trisomy 18
Age Risk: 1:20 Downs
Age Risk: 1:70 Trisomy 18
Risk Cutoff: 1:50 Downs
Risk Cutoff: 1:100 Trisomy 18.
I understand the range that the for the NT scan (under 2mm) is good at 1.2mm, but I am not understanding how the blood work rates. Good, bad, ??? This was an IVF pregancy. Could you please help to explain if the blood was in a good range and what the overall intrepretation of the results should be? Thank you in advance for your insight. Lauri
At Wed May 14, 04:00:00 PM 2008,
Anonymous said…
Dr T.
Thank you for your insightful comments. My wife and I have been trying for a baby for 4 years. After 2 failed IVF cycles (and three transfers), we decided to give it one final attempt. We opted to have PGD screening done, and a day 5 blastocyst transfer. Only one embryo from the harvested 12 passed the PGD screening, but it passed with flying colors, and we duly transferred it. We then received the fantastic news that we were pregnant, and not only that, but the embryo had split and we are to have twins (monchorionic/diamniotic)!
We just got the results of first trimester screening report, and results are concerning, and I’m hoping you can help discern them. The main question I have is the following:
Our excellent PGD results are not taken into account in the initial age related risk. Surely this should significantly reduce our initial and subsequently overall risk. Our genetics councellor and perinatal Dr. do agree with this point but have no idea how to quantify this risk reduction.
If our risk was above the 1:311 cutoff (which by the way seems completely arbitrary) we probably would not opt for an amnio, but now we don’t know what to do.
Thanks in advance
Gest Age: 13w0d
Free Beta hCG (MOM): 0.65
Maternal age at EDC: 38
PAPP-A MOM 0.24
NT Twin A: 1.7
NT Twin B: 2.4
Age Risk: 1:153 Downs
Screen Risk: 1:232 Downs
Cutoff Risk 1:311 Downs
At Wed May 14, 04:35:00 PM 2008,
Anonymous said…
Dr T.
Thank you for your insightful comments. My wife and I have been trying for a baby for 4 years. After 2 failed IVF cycles (and three transfers), we decided to give it one final attempt. We opted to have PGD screening done, and a day 5 blastocyst transfer. Only one embryo from the harvested 12 passed the PGD screening, but it passed with flying colors, and we duly transferred it. We then received the fantastic news that we were pregnant, and not only that, but the embryo had split and we are to have twins (monchorionic/diamniotic)!
We just got the results of first trimester screening report, and results are concerning, and I’m hoping you can help discern them. The main question I have is the following:
Our excellent PGD results are not taken into account in the initial age related risk. Surely this should significantly reduce our initial and subsequently overall risk. Our genetics councellor and perinatal Dr. do agree with this point but have no idea how to quantify this risk reduction.
If our risk was above the 1:311 cutoff (which by the way seems completely arbitrary) we probably would not opt for an amnio, but now we don’t know what to do.
Thanks in advance
Gest Age: 13w0d
Free Beta hCG (MOM): 0.65
Maternal age at EDC: 38
PAPP-A MOM 0.24
NT Twin A: 1.7
NT Twin B: 2.4
Age Risk: 1:153 Downs
Screen Risk: 1:232 Downs
Cutoff Risk 1:311 Downs
At Thu May 15, 06:04:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Lauri May 13: At age 44, those are GREAT test results. I would not recommend anything else at this point except perhaps an AFP test (alone, not a "quad screen") at 16 weeks and a 'genetic sonogram' at 18-20 weeks. Relax! Odds are in your favor that the baby is just fine. Let us know how things turn out. Dr T
At Fri May 16, 02:28:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Worried in Colorado: You left out some important information for me! What was your combined risk assessment result? At your age and with the relatively high hCG and comparatively lower PAPP-A, I presume you were given an increased risk for trisomy 21. The first thing you might have your doctoors do is ask the lab to recalculate the result with the different weight. I don't know wheter that will make things better or worse at this point.
Anyway, the cyst should not affect your hCG levels. The move to Colorado is a question I cannot answer! Your body should adapt fairly quickly to the higher altitude, but there are lower oxygen levels...hmmm....great question, so why don't you ask an MFM specialist who lives in Colorado?!? There are some good ones there. Please let me know what you find out. Best wishes and thank you for reading! Dr T
At Fri May 16, 02:36:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To anonymous May 14: With what you have been through, my suggestion would be to NOT DO ANYTHING at this point. The babies must be identical, so they have the same chromosomal complements. Other things can cause slightly increased NTs in twins including cardiovascular malformations (which are more common in twins, even if they have identical chromosomes) and twin-to twin transfusion syndrome. If you don't have an MFM specialist, I suggest you find one! In your situation, I would offer you another sonogram at 16 weeks to reevaluate the fetal staus and growth (and get at least some sense of the normal aanatomy) and then again at 18-20 weeks. There is plenty of time to get an amnio if you feel like you have to for peace of mind. By the way, with your wife's history of infertility and the twin pregnancy, ask your doctors to evaluate your cervical length at that later ultraound as well. Infertility patients are at increased risk for cervical incompetence as well! Good luck, thanks for reading, and let me know what you find out! Dr T
At Fri May 16, 06:18:00 PM 2008,
Margaret said…
Dear dr. Trofatter:
I agree that your blog is by far the most informative, especially for those of us who need more detailed information about our pregnancies.
I am 44 years old and 15 weeks pregnant. This is my second child. My daughter is 3 years and four months. I have been very lucky getting pregnant naturally, right when I have planned it. Unfortunately, I had two miscarriages. One at 8.5 weeks three months before my daughter was conceived and second at 10.5 weeks two months before beginning of this pregnancy.
My first pregnancy was a great experience without any problems ending with short labor and vaginal birth. This time, I was not so lucky. My CVS indicated that two out of 20 cells showed trisomy 2. The doctor who performed the CVS told me that it is most likely the case of placental mosaicism and that my baby should be fine. I have read all there is to be found on the Internet about the trisomy 2 and placental mosaicism. Medical journals tend to publish most extreme cases and this does not help in easing my anxiety. I am scheduled to have amnio on May 20th. I am terrifies that results will show that the baby has also been affected.
I would greatly appreciate any insight that you can give me about my case.
Thank you.
At Sat May 17, 06:55:00 AM 2008,
Anonymous said…
DR.T
I am 40 years old and just had IVF treatment to achieve my first pregnancy. I had two screenings. The second screening was offered after i arranged a private one but has given me confusing results.
Combined test one:
At 11 weeks 5 days
CRL 60.3mm
NT 1.4 mm
Free Beta HCG is 3.2910
Maternal Serum PAPP-A is 2.0049
adjusted risk T21 1: 1341
Combined test two
At 12 weeks 4 days
CRL 72.7mm
NT 1.6mm
Free Deta HCG is 3.66
Maternal Serum PAPP_A is 2.12
adjusted risk T21 is 1:170
Other inf:
Nasal bone present on both scans and other anatomy checked as normal. Heart rate at 160 bpm
I was given a 1: 374 based on NT alone in test two.
Question:
There is such a big difference between these combined test 'risk' figures. Should i have an Amnio? I was feeling reassured and now I am very worried . I should not have done two tests to confuse things but the inconsistency in the blood result is making me feel concerned. Is this HCG really really high and the PAPP-A low?
I am not sure which factors were used to plug into the computer programme at the different labs ie did one lab factor in ivf and the other not?. Why does a week make such a big difference to the adjusted risk?
I would very much appreciate your help.
kind regards
JJ
At Mon May 19, 02:02:00 PM 2008,
Anonymous said…
Hello,
I received the results of my First Screen for Down Syndrome and Trisomy 18.
Age at term: 40
NT:1.2mm
CRL: 50.4mm
Gest Age: 11.4wks
Results:
NT 0.92MoM
PAPP-A 0.74MoM
hCG 1.62MoM
Interpretation: Screen Positive - Increased Risk of Down Syndrome.
They suggested CVS. With this results should I do the CVS or wait for week 16 to do the Amnio?
Thank you. Adriana.
At Sun May 25, 03:56:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Margaret May 16: I am sorry that I did not see your comment before you had your amnio, but most trisomy 2 mosaicisms are isolated to the placenta as you were told. If your amnio indicates that there is a possibility that the baby has this as well, please write back and I will tell you my thoughts. Hope things went well with the amnio and we will be pulling for you. Dr T
At Sun May 25, 04:06:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To JJ May 17: I will never understand why folks have repeated tests by different providers and by different laboratories! Almost invaraibley they are put in the situation you have gotten yourself into! Both the hCG and the PAPP-A are on the high side, so it is probably unlikely the baby has Down syndrome. The elevations of both might be the consequence of your IVF therapy as well.
Personally, I would have gone with the results of the earlier test (and stopped) but since you didn't, the earlier the test is done in first trimester screening, the more reliable the serum markers tend to be. Your later increased risk is again being driven by the hCG (and your age), and this is because as pregnancy progresses, the hCG falls from its high in first trimester to a stable, much lower level. For most of my patients with even a 1 in 174 risk, I usually recommend waiting for a 'genetic sonogram' before making a final decision about having an amniocentesis, but that choice is yours. I bet everything will be fine. Why don't you let us know what you decide to do and how things turn out. Best wishes and thanks for reading! Dr T
At Sun May 25, 04:08:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Adriana May 19: You were "screen positive" but what was the actual risk for both Down syndrome and trisomy 18? The hCG is slightly elevated, but the other numbers look pretty good. Let me know and I will tell you what I think. Good luck! Dr T
At Wed May 28, 06:19:00 AM 2008,
Anonymous said…
Dear Dr T
Thank you for your reply.I will have a detailed scan at 16 weeks. What level of reassurance will this give? I prefer to do the scan sooner rather than later. I wish to avoid amniocentesis due to repeated IVF. Thanks again for all your help. Best wishes and kind regards
JJ
At Wed May 28, 02:21:00 PM 2008,
Anonymous said…
Dr. T,
I am 38. I had the FTS done at 12w4d with these results:
NTF: 1.3 mm
hCG: 1.4 MoM
PAPP-A: .57 MoM
My risk based on age was 1:126 and my screen risk is 1:303, which sounds pretty good to me, however the lab has a cut-off of 1:304 so they consider me a "screen positive" and have said I am increased risk for Down Syndrome (my T-18 numbers were fantastic). How concerned should I be? My OB says that the numbers look fine so it must've been my age that drove up my risk. That doesn't make sense though, because I know several 40+ year olds who had much lower risk than mine. There must be something in that bloodwork that doesn't look good. Could you tell me how those numbers look to you?
Thank you so much!
At Wed May 28, 05:10:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To JJ: If the scan is completely normal at 16 weeks, there is a very good chance the baby is too and I would put off thinking about the amnio! I would still recommend a 'level 2' or genetic sonogram at 19-20 weeks to look more carefully at the baby's anatomy so that if anything is suspicious at that point, you could still have the amnio performed. Good luck and let us know! Dr T
At Thu May 29, 02:27:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Anonymous May 28: Your risk is what it is - 1 in 303! That is pretty darn good. Just because the laboratory cut-off for calling someone "screen positive" is 1 in 304 does not mean your risk is any higher than what you have been gven. So, what you do from this point forward depends on whetehr you view the cup as 99.7% full or as 0.3% empty! Personally, I would not recommend anything else be done except a good ultrasound at 18-20 weeks! Good luck and please let us know how things turn out! Dr T
At Fri May 30, 06:19:00 PM 2008,
Margaret said…
Dear Dr. Trofatter:
This is Margaret, 44years old with CVS trisomy 2 mosaicism diagnosis.
Thank you very much for you response and kind words. My amnio went well; it was a bit more painful than CVS. I have just received my results. Happily, the baby does not show any signs of trisomy 2. However, I was told that there is a theoretical possibility that, because of mosaicism, there may be some concerns as to the proper functioning of the placenta. I want to be as informed and proactive as I can to ensure that I and my baby get a proper care. During our initial discussion, my obstetrician said that monthly ultrasounds to monitor baby’s growth should be enough. I would greatly appreciate your input on how such case should be followed and if there is anything else that should be done.
Thank you again.
Margaret
At Tue Jun 03, 07:08:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Margaret: Simply following fetal growth, amniotic fluid, and Doppler flow studies every 3-4 weeks will usually pick up a problem related to placental insufficiency in time to monitot the baby more carefully. BTW, congratulations on the test results. Bet things turn out just fine. Dr T
At Tue Jun 10, 12:51:00 PM 2008,
Anonymous said…
Dr. T.,
I am 40 years old and pregnant with my second child. I had my first trimester screen done with the following result:
NT - 1.4mm
DS Risk - 1:185
T 18 - 1:2500
I just received my second trimester triple screen results which showed:
DS Risk - 1:5900
T 18 - 1:10000
Based on the first result for DS, I was considering amnio (when pregnant at 38, my 1st trimester DS risk was 1:2900 so I was a bit surprised at 1:185). However, based on the second result, amnio doesn't seem necessary now. I have a level II ultrasound scheduled next week with a specialist (at 17 1/2 weeks gest). What would cause such a discrepancy between the results and if the level II ultrasound is ok, do you think amnio is justified based on the first trimester result?
At Wed Jun 11, 07:16:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To anonymous June 10: I would not recommend the amnio with those test results unless something abnormal is seen on the ultrasound. Both screening tests were very reassuring for your age and the risk of Down syndrme is VERY low. By the way, the tests measure different serum 'markers' and those markers change in concentration with gestational age. Best wishes! Dr T
At Thu Jun 12, 09:29:00 AM 2008,
Anonymous said…
Dr T,
I just received the 2nd trimester screening . Here are the results
Age:32
Gest Age:17.1
HCG-MoM: 2.58
APF-MoM:1.21
DS Risk - 1:235 ( Cutoff Risk: 1:270)
T 18 Risk-1:20530( Cutoff Risk:1:100)
The Lab Suggest that i have inreased risk of DS.
I am a bit worried about this. Is my HCG very high? What should we do next?
Thank you!
At Sun Jun 15, 09:10:00 AM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To anonymous June 12: the hCG is above the 95th percentile, but there are other things that can cause a high hCG at this point as well. Your risk for Down syndrome is about that of a 35-36 year old woman, however, the odds are still in your favor the baby is perfectly normal. Your choices are to have an amniocentesis or to await a genetic sonogram at 18-20 weeks and base your amnio decison on those results. A normal ultrasound at that point reduces your a priori risk (based on the screening test, not your age) by at least 60-80%. The choice is entirely yours! Best wishes and let us know how things turn out. Dr T
At Tue Jun 24, 06:07:00 PM 2008,
Heather said…
Dr. T - Thank you so much for your help in interpreting results! I am 40 years old, and 14 weeks pregnant via IVF. My screening results at 12w4d were:
NT = .7
betaHCG = .96 MoM
Papp A = .47 MoM
My age-related risk for DS was given as 1 in 58; post screen quoted risk of 1 in 142 for DS, 1 in 204 for trisomy 18.
I was told both the NT and beta HCG are very good - it is just the Papp A that is low. What percentile is my Papp A result? Could the low Papp A number have been caused/impacted by IVF?
We'd prefer not to do an amnio, but do want to make the right decision. At this point, I have a level II ultrasound scheduled for 16W5d - if things look normal on that ultrasound, would that reduce my risk even further?
Heather
At Thu Jun 26, 07:21:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Heather: Tjose are actually very reassuring results for a 40 year old woman. The PAPP-A is at about the 5th percentile, but the important thing in the risk assessment is the COMBINATION of factors. There are many other reasons for a low PAPP-A. In fact I have svereal other posts over the past year or so that address those. Chances are your baby will do just fine. A normal ultrasound will reduce your risk for trisomies 18/13 by at least 90% and for Down syndrome, at least 50-80%. Good luck and let us know how things turn out. Dr T
At Fri Jun 27, 10:31:00 PM 2008,
Jmo said…
Dear Dr. Trofatter,
I just got the results of my first trimester screen, and now I am quite concerned. I had a miscarriage in November, and got pregnant again in April. The day of my test, 6/24, the gestational age was measured at 12 wks 5 days. I will be 39 when I deliver. The genetic counselor informed me that my age related risk was 1 in 65, which seems high. The Nuchal test went well, and the doctor was pleased, and felt with a good blood test result I could avoid amnio. However, the blood results came back as cause for concern (I don't have the exact numbers) and my adjusted risk is 1 in 87. They fit me in for an appointment on Tuesday for either a CVS or early amnio. Are there other reasons the blood could be off? I am obviously very anxious. This is my first child, and feels like my only chance. The miscarriage was very difficult. I am not sure I could try it a third time. I have no idea what I will do if I test positive, and feel be impossible. I thank you for having this blog, and answering these questions.
At Mon Jun 30, 01:12:00 AM 2008,
Anonymous said…
Dear Dr T,
I am the anonymous June 12.A good news for me today: I took the genetic sonogram today and the result turned out to be all fine! So we r expecting a healthy baby girl in Nov!
Thank u so much for the professional advice from u! It is such a good blog that i feel really lucky that i could find it after being worried about the screening results!
At Fri Jul 04, 06:25:00 AM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To anonymous June 27: The risk is less than your age alone risk and is what it is - 1 in 87. That means 86 of 87 would be expected to NOT have Down syndrome based on the combined results. Remember, that riisk is calculated not just on the blood work, but the fetal measurements, your age, weight, etc. You do NOT have to opt for either invasive diagnostic test at this time unless you need to find out now. You could simply have a good genetic sonogram done at 18 weeks or so. If that is entirely 'normal', it would reduce the a priori risk based on the screening test (not your age) by as much as 90%. Best of luck and let us know how things turn out. Dr T
At Fri Jul 04, 06:25:00 AM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To anonymous June 30: Congratulations and best wishes for the rest of the pregnancy!
Dr T
At Wed Jul 09, 02:27:00 PM 2008,
Anonymous said…
I just received results from my screening, and I don't think I should be too worried, but the earliest I can get in to see the genetic couselor is in 2 weeks, hopefully you can help. My results were as follows.
Age 36 on June 25, babys age is 11w 5d at testing and results were:
cutoff:1 in 302
before:1 in 215
after:1 in 217 (she said because of my age.
Beta HCGmom: 1.62
Percentile:80
Papp-A mom: 0.47
Delta Nt: =.01
Should I be worried or need further testing?
Thanks,
Anna
At Sat Jul 12, 06:00:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Anna: The results are the same as your age-related risk and that is probably the consequence of the lower PAPP-A and the difference in MoM betwen that and the hCG. The final choice is yours, but I usually do not recommend CVS with those results and would offer you either an amniocentesis at 16 weeks or simply a good 'genetic sonogram' at 18-20 weeks with the option to proceed with an amnio if something abnormal is found at that time. A normal genetic sonogram will reduce your risk for Down syndrome by as much as 90%. In general, I would feel comforted by the screening test results at this point. Good luck! Dr T
At Thu Jul 24, 09:10:00 AM 2008,
margaret1111 said…
Dr. T,
Thank you for presenting this information in a manner that laypeople can comprehend, particularly at a time when most of us need clear and direct responses. I have seen nothing else like it on the web.
I am 39 and the result of my first trimester screen indicate a 1/59 chance of Down's. My NT was 1.3, free beta HcG 2.30 MoM, and Papp-A .63 MoM.
I have a 3 1/2 year old (healthy), followed by 2 miscarriages for unknown reasons, and then a diagnosis of infertility (unknown) which led to this IVF pregnancy (due mid-Jan).
We are scheduled for a 19-week ultrasound and cannot decide if we should have an amnio at that time. This is really our last chance at another child and we will not terminate this pregnancy, however the thought of the rest of the pregnancy being full of anxiety is very difficult.
Do the numbers I have presented give you any indication of what we should do about an amnio? I know you cannot direct us one way or another, but I have read much of your good advice to others who are on the fence and hope you can tip the scales for us.
Thank you so much.
Margaret
At Thu Jul 24, 02:44:00 PM 2008,
Suzanne Teague said…
I have spent the last two weeks reading everything I could find on NT screening results. I found so much comfort and hope from your blog I wanted to share my story.
I had my NT screening at 13.3 weeks. I am 35 years old and will be 36 on delivery.
CRL: 77.1mm
NT: 3.1mm
Free beta: 2.14 MOM (90%)
PAPP-A: 0 .75 MOM (40%)
Trisomy 21: risk of 1:6 (1:243 by age alone)
Trisomy 13 & 18: risk of 1:9301 (1:466 by age alone)
I was scheduled for genetic counseling and an amnio. I had decided early I didn’t want an amnio but when faced with such a great risk I decided I would go ahead with it.
Yesterday we met the genetic counselor and she discussed a few things with us. She said their cut off for NT was 3mm and that the NT screening can have a false positive of 25% in women 35 years of age and older. These are 2 things I hadn’t really read about and that alone was hopeful. After we met with her we were given a level II ultrasound. The technician was really thorough and was able to tell us we were having a boy.
The doctor doing the amnio was very nice. She said that nothing on my ultrasound looked abnormal and that everything looked good. I still wanted the amnio so she prepped me and proceeded.
My husband and I opted in for the FISH results when we found out this lab could have them in 24 hours. We just found out our results about 1 hour ago. Our baby is negative for down syndrome. The FISH came back negative for the chromosomal abnormalities it checks for.
So there is HOPE!! I was scared to death and had prepared myself for the worst. I am a worse-case scenario type and well, hearing that I was having a healthy baby boy was euphoric.
Dr. Trofatter,
You do a major service to those of us pregnant and scared. I read article after article from your blog and the comments. You are an amazing man and I thank you from the bottom of my heart for the good you do.
-Suzanne
At Thu Jul 24, 02:55:00 PM 2008,
margaret1111 said…
oops- free beta hcg was 2.39
At Fri Jul 25, 06:10:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Margaret: Your risk is being driven by your age and the relatively high hCG compared to the PAPP-A. The composite risk is only slightly higher than your age alone risk in first trimester for having a baby with Down syndrome. I cannot tell you what to do, but I have found that some folks do better with knowing their baby has Down syndrome, even if they plan to continue the pregnancy. It can be much better to be prepared and to have garnered information and support than to deal with the 'unexpected' at delivery. And, if you find out the baby does not have Down syndrome, your stress level for the rest of the pregnancy will be dramatically reduced. Best wishes and please let us know what you decide. Dr T
At Fri Jul 25, 06:12:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Suzanne: Thank YOU from the bottom of my heart for sharing your story and the kind words. Let us know when you have your son in your hands! Dr T
At Thu Aug 07, 10:38:00 AM 2008,
Petar said…
Dr.T,
I am 32 years old and I'm at 16th week of my first pregnancy. I had FTS done at 12w4d with these results:
NTF: 1.03mm (0.64MoM)
fb-hCG: 7.97 corr MoM
PAPP-A: 1.41 corr MoM
double test risk 1:221
Biochem risk + NT 1:1214
age risk 1:602
trisomy 18 + NT risk < 1:10000
Doctor told me I had unusually high fb-hCG! And advised me to do amniocentesis.
I had small vaginal bleeding (brown spotting) in first months, and one huge bleeding
at 10th week (15 days before FTS)! Where I thought I lost my baby and since then I have to lie down most of the time.
I was given Progesterone (3 shots) and Pregnyl amp. for 10 days and I had to drink Dydrogesterone up to 14th week.
After massive bleeding I got two more shots of Pregnyl and Dydrogesterone pills.
(Bleeding stopped week ago)
Plus I have diagnosed placenta previa marginalis and haematoma retroplacentaris.
Afraid of amniocentesis risk, and not so afraid of child with down syndrome, I repeated expert
ultrasound 4 days later, and I repeated blood tests again (this time in different lab).
New results were:
NTF: 0.9mm (0.54MoM)
fb-hCG: 2.92 corr MoM
PAPP-A: 1.79 corr MoM
Combined risk 1:7456
Puzzled by different results of blood tests, I repeated blood test again :)
And 3 days later, last results were:
fb-hCG: 1.3 corr MoM
PAPP-A: 1.13 corr MoM
All doctors advise me to go to amniocentesis, but Im reluctant to do so because I'm afraid of miscarriage.
What do you think about my results?
Thank you
Gorana and Petar
At Thu Aug 07, 07:50:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Gorana and Petar: I think the abnormal hCG results could be the result of the placenta previa. However, you will have to base your decision regarding an amnio on the risk result you were given. By the way, if you have been bleeding, you ARE at greater risk for complications related to the amnio. You might want to factor that into your decision! Good luck. Dr T
At Tue Aug 12, 12:46:00 PM 2008,
Anonymous said…
Dr T-
Thanks for your blog - it's a wonderful resource.
I am 36 years old and had a first trimester screen at 12 weeks (this is my 2nd pregnancy). My results came back increased risk of DS (1 in 64). My problem, or hang up really, is that the results were based on a fetal age of 13 weeks (based on the crown/rump measurement). The results were:
Free Beta HcG: 2.52 MoM
PAPP - A: .49 MoM
Delta NT: -0.08
I called the office where the procedure was done (different than my OBGYN)about the discrepancy with fetal age, and was told that "they feel comfortable using the measurement based fetal age." But in the same breath they told me that since my husband and I are both tall, our baby could fall on the "far side of the bell curve." Obviously I'm wondering what that means for our results. Our first child was large for his age, and at 3.5 weeks premature weighed in at 6lbs 9ozs and was 20 inches long.
Now, my husband and I are being encouraged to have an amnio. I don't want an invasive procedure, especially when I really don't know if I should have ANY confidence in the test results. I could use some advice.
At Sat Aug 16, 06:12:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To anonymous Aug 12: In most laboratories responsible for providing the final risk assessment result, the crown-rump length alone )not the staed gestational age) is used. Obviously this has some flaws, but since most babies, regardless of parental size, grow within a rather narrow range of variation in the first trimester, it was felt this is the most accurate way to use as the basis of the maternal serum marker and fetal NT results. Of course that doesn't help you, but since the final decision regarding an amnio, or simply waiting first for another ultrasound, is YOURS and yours alone, I suggest you base your decision on the 1 in 64 risk, your own risk tolerance, and your "gut" feelings. Best of luck and let us know how things turn out! Dr T
At Sun Aug 17, 10:00:00 PM 2008,
Anonymous said…
Dr. T,
I received my 2nd Trimester Triple Screen results and was hoping you could be of some help.
Age at EDD: 37.2
AFP MoM: .59
hCG MoM: 1.68
uE3 MoM: 1.37
Not overweight, no diabetes, gestational age may be off a couple of days but no more (I think)
Risk: 1 in 75
I know that my AFP is pretty low, but what is confusing to me is that the uE3 is actually above 1.00. Isn't it supposed to be low as well when at risk for downs? Also, is my hCG really that high? Are there other things that can cause such a low AFP? I'm a total wreck about this and would appreciate any help. As of now, I have a level 2 u/s scheduled a week from tomorrow. Thank you so much. Michelle
At Tue Aug 19, 07:41:00 PM 2008,
Anonymous said…
Dr. T.
I'm the "anonymous from 8/12". After a follow-up visit with my obgyn on Monday, my husband and I decided to go the non-invasive route, with the agreement that if further risk factors are indentified we will get an amnio for confirmation purposes. I feel more comfortable with this course of action. So, it's a waiting game for us...we'll let you know the outcome.
Thanks-
PMW
At Fri Aug 22, 05:18:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Michelle: Actually none of the values are that far "off", but the combination of the slightly increased hCG and the slightly decreased AFP, combined with your age, is doubling your "age alone" risk for Down syndrome in midtrimester. See what the ultrasound shows and then make your decision regarding an amniocentesis. That would anser the question once and for all and if it is normal, you will certainly sleep better the rest of the pregnancy! Best wishes. Dr T
At Fri Aug 22, 05:20:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To PMW: Thanks for letting me know and we certainly wish you the best. Dr T
At Mon Sep 01, 09:00:00 PM 2008,
olucia12 said…
Dr. T,
I am 36 yrs old. Age at delivery 37. One healthy normal prior pregnancy.
I had the FTS done at 12w1d (GA by CRL) with these results:
NTF: 1.4 mm
Free Beta % 90
Free Beta MoM:2.02
PAPP-A%: 40
PAPP-A MoM: 0.8
Risk for DS based on maternal age alone is 1 in 179.
Risk for DS based on freeBeta, PAPP-A, NT and maternal age is 1 in 322, which is less than a 35 years old gravida's risk (at my gestational age) of 1 in 302.
Risk for Trisomy 18/13 only based on maternal ages is 1 in 317.
Risk for Trysome 18/17 based on freeBeta, PAPP-A, NT and maternal age is 1 in 6,321 which is less than trisomy 18/13 cut off risk of 1 in 150.
How concerned should I be? Could you tell me how those numbers look to you?
Thank you so much!
Olga
At Tue Sep 02, 01:34:00 PM 2008,
Anonymous said…
Dear Dr T,
I am very glad to have come across your blog and I hope for your help. Your answers are very clear for a "normal" non-medical person.
I am 41 (age at delivery will be also 41), second pregnancy, 20 weeks now. First baby is fine and is nearly 2 now. Both pregnancies natural and very welcome after more than 10 years of infertility diagnosis.
I had 2 screenings
1st screening - 11weeks 4 days (Ultraspound age)
NT 1.2
HCGb MoM 0.74 corr MoM 1.1
PAPP-A MoM 0.61 corr MoM 0.99
SD risk (age only) 1:85
SD risk 1:260 - border risk
MoM limits (normal) 0.5-2.0
2nd screening - 17 weeks 6 days (ultrasound age)
HCGb MoM 2.01 corr MoM 2.50
AFP MoM 0.60 corr MoM 0.83
SD risk (age only) 1:85
SD risk 1:25 - high risk
MoM limits (normal) 0.5-2.0
Please advise your opinion as I am worried about such difference in risk accessment and high HCGb at second screening.
Many thanks, Lara
At Tue Sep 02, 04:54:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Olga: Sept 1: The numbers look pretty good to me because your Down's risk is less than half your age alone risk in first trimester. Many patients will simply opt for a level 2 ultrasound at 18-20 weeks under your circumstances. But, the question remains: How do the numbers look to YOU! Your decisions will have to be made based on your own comfort level and not on what I or anyone else tell you! Good luck and let us know how things turn out! Dr T
At Tue Sep 02, 04:59:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Lara: I tend to trust the first trimester screening and recommend that the second screening be done only if an "integrated" screening assessment is performed using the results from both tests. The reality is that your true screening risk probably lies somewhere between the two! Technically you were "screen positive" even with the first trimester assessment. Odds are good your baby is fine, but with that 1 in 25 looming over your head, you should give some serious thought to an amniocentesis. Please let us know what you do and what you find out! Dr T
At Wed Sep 03, 11:42:00 AM 2008,
Anonymous said…
Dear Dr T - from Lara
Many thanks for your reply and confirmation of my research that the first trimestre screening is more trustworthy (for lack of better expression). I am hopeful that all will be fine, at the end of the day 1:25 is only 4% chance.
I have been soul searching with my first pregnancy when at the delivery age of 39 the DS risk was given as 1:98. But both my husband and I decided that after so many years of various procedures including unsuccessful IVF we were not prepared to terminate that long awaited pregnany (which happened naturally) in any case. So we did not opt for amnio and thank God we had our perfect baby boy. This time feeling is the same. Amnio will only tell us something but will not change our decision. So we feel that there is no point really.
Obviousy it is worrisome to have such a risk as 1:25 but we feel that this second baby is as much a gift from God as the first one and we will love him or her regardless!
We also feel optimistic as ultrasounds so far were good and we diceded to have an expert ultrasound at 21-22 weeks but that's it.
Many thanks again for your blog and your help to us - future mums. I will definitely let you know how it goes.
Lara
At Wed Sep 03, 06:47:00 PM 2008,
Anonymous said…
I am Margaret 111 who wrote to you at the end of July with a 1/59 risk of Down's. Following your comments, we decided to go through with the amnio and I am so happy to say that everything came out wonderfully, and we will be having a girl in January! I can' thank you enough for both the information and the manner in which you convey it. Best of luck to all of you out there going through something similar.
At Mon Sep 22, 11:06:00 AM 2008,
Anonymous said…
Dear Dr. T.,
I am relieved to have found your website! There is very little out there to help those of us in a difficult situation folloiwng first trimester screenings. I am 38 years old and have 2 healthy children. The results from my screening suggest a 1:25 chance of Down's Syndrome. I am 14 weeks and the amnio will be scheduled for some time between the 15 and 1/2 to 16 week mark. The thought of having to wait a couple of weeks for the test and then 10-14 days for the results is brutal! Somewhere in your blog, you mentioned FISH results. I am assuming this is preliminary results? If so, how accurate is it? Do all labs/doctors offer this? We are so saddened by all of this! Thanks for any help you can offer.
L.P.
At Wed Sep 24, 11:02:00 AM 2008,
Anonymous said…
Dr. T.
I am 38 years old and just receied the results from my first trimenster screen My downs risk is 1/2641, but my Trisomy 18/13 is 1/759. I realize overall these are both"negative" results and I am happy about that. My question is what would cause the Trisomy risk to be three times higher than the Downs?
Thank you.
At Fri Sep 26, 06:43:00 AM 2008,
Anonymous said…
Good morning, Dr. T.,
I am very nervous about the results of my first trimester screening. I have an amnio scheduled for next Friday and have requested the FISH results. I am hoping you could offer some insight.
NT 3.0 mm
hcg 1.03
papp-a .38
With the exception of the NT, everything appeared "normal" during the ultrasound (nasal bone, heart rate, etc....) I have had 2 normal pregnancies. My age at estimated delivery date will be 39 years and 1 month. Thank you for any advice or insight you might have to offer.
Sincerely,
LP
At Wed Oct 01, 09:06:00 PM 2008,
Anonymous said…
Dr. T,
I am 45 years old and am miraculously 13 weeks pregnant via IVF without ICSI. This will be my first child. (My only previous pregnancy was an ectopic at age 44.)
My initial betas were very wobbly (80-70-87) and early ultrasounds measured a week behind my actual gestational age. Now the baby's CRL has caught up, and my beta zoomed to 339,000 @ 12 weeks. Medically, my body's reactions are idiosyncratic. I'm almost always an "outlier," especially on any test that relies on timing.
Is my very high beta in any way related to the hcG level for the triple screen? I had testing done Monday, and am awaiting lab results. The medical center I visited cannot test "free hcG," but only total hcG. Is this problematic?
And can you explain more about how the results are related to gestational age? I was tested at 12w5d. The baby's CRL measured 61, or 12w4d. Yet for the blood work they used a dating of 11w5d, based on my first ultrasound. Is this discrepancy likely to affect the result?
My NT measurement was 2.4. Is this measurement likely to increase or decrease over time?
Many thanks for your wonderful blog!
Rose
At Thu Oct 02, 07:07:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Lara Sept 3: Thank you for sharing your story and your feelings with us. I wish you the best for this and any other pregnancies you might have! Dr T
At Thu Oct 02, 07:09:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Margaret Sept 3: Well, CONGRATULATIONS. Other readers always appreciate it when someone lets us know the outcome to their 'trials'. Have fun with the baby and thank you for sharing your story! Dr T
At Thu Oct 02, 07:14:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To LP: Personally, I have never had a patient who had FISH who was told her baby had Down syndrome, trisomy 18 or 13, Turner syndrome, or any of the other chromosomal abnormalities routinely tested by FISH end up having a normal baby. I have had a handful of women who had no abnormality detected by FISH end up with a chromosomally abnormal baby on the final karyotype determination. I do not know the absolute numbers but the false positive rate must be less than 2-3% and the false negative rate is probably in the same range. Good luck to you and let us know what you find out. Dr T
At Thu Oct 02, 07:17:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To anonymous Sept 24: The different components of the first trimester screen have different weights in their prognostic values for Down syndrome vs trisomy 18. Your risk for either is VERY reassuring. The overwhelming odds are that you have a chromosomally normal baby. Best wishes for the rest of the pregnancy. Dr T
At Thu Oct 02, 07:20:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To LP: Your age, the NT measurement and the relatively low PAPP-A are driving your risk for Down syndrome. Your age alone risk is about 1 in 75, so the combined risk assessment is three-fold that. However, that does NOT absolutely mean your baby has Down syndrome, but it is certainly an appropriate indication for an amnio. Good luck and please let us know how things go. Dr T
At Wed Oct 08, 06:43:00 AM 2008,
Anonymous said…
Dear Dr. T.,
I am L.P. from Sept. 26th. Thank you so much for your valuable insight! We had the amnio on Friday and the FISH results came back yesterday saying that the baby is fine! We are thrilled. I know that these are preliminary results, but it is such a relief. Hopefully the final results will not change anything!
Sincerely,
L.P.
At Wed Oct 08, 05:48:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Rose: Normally the hCG rises very rapidly during first trimester, doubling every 2-3 days, peaks at 9-10 weeks and then falls back to a more stable level by 20 weeks for the duration of the pregnancy. Elevated levels can occur as a range of "normal', with molar and partial molar pregnancies, with larger placentas and multiple gestations and with certain other conditions. It does NOT ncesessarily mean you baby has Down syndrome. Many labs use the total hCG rather than the fee beta-hCG so I am sure the lab your doctor uses has standardized tables in that regard. Most labs nowadays do not use the gestational age for the interpretation of the results, they use the crown-rump length of the baby. By the way, I have seen many instances in IVF pregnancies where the nmaternal serum markers are very difficult to interpret because of the hormonal therapy associated with IVF, so now is not the tine to panic. Incidentally, the NT measurement is fine. Best wishes for the pregnancy and keep us informed along the way! Dr T
At Tue Oct 14, 05:17:00 PM 2008,
Anonymous said…
Dr. T,
I just had a first trimester nuchal test done: ultrasound and blood work. I don't know the exact numbers but was wondering if you could tell me what you think. The ultrasound looked good accoring to the technician. She said my measurement was within the normal range. Then today I got the blood work results and when my doctor called to share the results she said that according to my age 38 my risk for downs is 1:85 and my results were 1:175. She also said that there was a note that my number would "improve if my race had been identified." I'm not sure why my race caucasian wasn't included. Anyway, given the little information I'm able to provide should I be extremenly worried? With my other 2 children my numbers were always high 1:2000 and 1:485. Also can they recalculate once given my race? How much would my race improve it? Any thoughts appreciated.
At Sun Oct 19, 07:45:00 AM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To anonymous Oct 14: Your doctor should ask the lab to recalculate your risk with your race included. I cannot tell you off the top of my head how much that will improve the result. The risk assessment is not all that bad considering your age. Many women with those results will simply elect to have a 'targeted' ultrasound done at 18-20 weeks because if that is 'normal', your risk (using the screening test as your baseline risk) is reduced by at least 50%. As to why this is different form your other pregnancies - every pregnancy is different and you are older! Best wishes. I bet everything is fine! Dr T
At Mon Oct 20, 11:59:00 AM 2008,
Jennifer said…
Thank you for answering all the questions on this page.. I have am concerned about the results. The doc says that the risk of downs and trisomy is very low but that the Free Beta MOM is really low and that can be an issue when it comes to miscariage or fetal growth issues. I have had no luck at all in finding any information about this and my OB has been no help in answering questions. If you have any advice I would appriciate it.
At Mon Oct 20, 12:01:00 PM 2008,
Jennifer said…
Thank you for answering all the questions on this page.. I have am concerned about the results. The doc says that the risk of downs and trisomy is very low but that the Free Beta MOM is really low and that can be an issue when it comes to miscariage or fetal growth issues. I have had no luck at all in finding any information about this and my OB has been no help in answering questions. If you have any advice I would appriciate it.
At Tue Oct 21, 06:35:00 PM 2008,
Anonymous said…
Dear Dr. T.,
I’m 34-years old and am 17 weeks, 5 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 appeared to be normal. The genetic history of my husband and I are void of any syndromes, sequences, or abnormalities.
Am I still at a high risk for delivering a baby with Down's Syndrome? Also, should my husband and I consider having an amnio due to the possible high 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 22, 06:50:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Jennifer Oct 20: I wrote a blog on that December 22, 2007. You can dig it out of my archives or copy and paste the following link: http://www.healthline.com/blogs/pregnancy_childbirth/2007/12/low-early-pregnancy-hormone-levels-hcg.html
Best wishes for the rest of the pregnancy and let us know how things turn out. Dr T
At Thu Oct 23, 07:54:00 PM 2008,
Jennifer said…
Thanks for your response, I guess I should have been more specific, the low beta was detected at 10weeks 4 days with the blood work from the NT Scan, I had an ultrasound at 12 weeks and the baby was measuring fine, in fact ahead at 12 weeks 4 days. All of my beta numbers in the beginning were great and doubled nicely every two days. That is where the question comes in... Is the low Free Beta MOM percentile an issue I should be concerned with???
At Thu Oct 23, 08:02:00 PM 2008,
Anonymous said…
Hello and thankyou
A relief reading your sane responses. Im so anxious at a time when i'd like to provide a calm and relaxed envorment for this growing baby. I've never come across such an inexact science, or been expected to make such big decions based on results no one seems able to clearly interpret or at least explain the logic of so i can create a context and make a good decision.
Im 38, & will be 39 and 4 months when i birth. I had a number terminations and a miscarriage when i was (much) younger, this is the first pregnancy ive carried. I had a first trimester ultratsound at 12weeks and received combined ultrasound / blood results yesterday:
heartbeat: 146 bpm
crown rump length: 54 mm
nasal bone length: 2.4 mm
All fetal anatomy was visible and appeared normal
cervix length was 38 mm
nuchal translucency 1.8mm
beta-hCG 2.8 MOM
ppA 2.3 MOM
nuchal translcency 1.3 MOM
trisomy 21 risk @ scan
maternal age risk 1/94
combined risk 1/300
trisomy 18 risk @ scan
maternal age risk 1/231
combined risk 1/11600
((they seemed to have estimated my weight at 68 kilos (no-one weighed me). I'd be 5 or so kilos less than that i suspect. dont know if this contributes to outcomes))
"this specimen has a calculated risk for Down Syndrome greater than or eaqul to the cut off of 1/300. we suggest this patient is offered amniocentesis"
And so Im booked in for the amnio on November 10th, and im feeling torn. Im also rhesus neg so will have to have the other needle too.
Not that the issue is the needles. the issue is the intrusive intervention. I would like to be able to justify it but i cant make sense of the formula or the results in a way that makes this possible.
The ultrasound was normal. My age related risk was reduced. Is it that the bloods are out of whack? And are they the dominant indicator?
Ive googled high and low. Im seeing a genetic counselor next Tuesday. Thankyou so much for any light youre able to shed
At Mon Oct 27, 08:44:00 PM 2008,
A said…
Dr. T,
This is Rose from October 1. Thanks so much for your kind reply! As I’d expected, my very high total hcG level (primarily) quadrupled my risk of Down Syndrome, from my age-related risk of 1/19 to 1/5. (My screen was 1/900 for Trisomy 18, and a nasal bone was seen, though they don’t include that in the probabilities.)
My results were:
NT: 2.4 mm = 1.5 MoM
PAPP-A: .83 MoM
Total Beta: 3.60 MoM
My IVF center has continued to monitor quantitative hcG, which stayed high for a while, but have finally begun to fall: (12w: 339,000; 13w: 289,000; 14w: 329,000; 15w: 205,000; 16w: 146,000). I’d assumed that the high betas were a result of my body’s usual quirky reactions to changes and typical mis-timings. Could they be related to chromosomes, or the IVF procedure/meds, as you state above? What would be the usual “stable” level for hcG by around 20 weeks?
I’m nervous about my upcoming amnio. Do you recommend that your patients request the FISH results?
Many thanks!!
Rose
At Wed Oct 29, 06:28:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
Jennifer: It can be associated with pregnancy complications as detailed in the link I gave you. But it also may have absoluetly no consequences on the outcome of the pregnancy. All you can do is follow the growth of the baby and consider having Doppler flow studies done to determine if there is any gross abnormality of placentation that might lead to placental insufficiency problems. Dr T
At Wed Oct 29, 06:51:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To anonymous Oct 23: You have to ask yourself how you feel about the 1 in 300 risk. They might call the 'risk positive' but it is STILL just a 1 in 300 risk. A 'normal' ultrasound at 18-20 weeks would further reduce that risk by AT LEAST 50% (1 in 600 or LESS). The amnio is YOUR choice - NOT your doctor's. Because if you lose a baby as a result of the procedure, the odds are still it would be a normal baby. Best wishes. Dr T
At Fri Oct 31, 04:35:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To anonymous Oct 21: If everything looked completely normal on your targeted ultrasound, the risk of Down syndrome should be no worse than 1 in 260. That would still be considered 'risk positive' but the risk is still NO WORSE than 1 in 260 (i.e., 259/260 babies would be expected to be normal). The decison regarding an amnio is entirely yours as I have pointed out to countless readers. I do not know what I would do in your situation because I am NOT! Best wishes and let us know how things turn out. Dr T
At Mon Dec 01, 11:02:00 AM 2008,
Anonymous said…
Dear Dr. T.
I am 39 years old and was told I have a 1 in 20 chance of my baby having down syndrome. My hcg level was 2.02 MoM, papp-a was 1.53 Mom, and the NT was 3.1mm. The baby measured from crown to rump 79mm. The heart beat is strong - 150 beats per minute. This is my fourth child. I am having amnio this week. Just wondering what your thoughts are on my test results. I am a basketcase.
Thanks.
Sincerely,
janet
At Fri Dec 12, 11:47:00 AM 2008,
Anonymous said…
Dr. T,
My First Trimester Screening done at 13 weeks blood levels are alarmingly high:
PappA- 2.5
UE3- 4.1
HcG- 3.5
Neck Measurement- 2.2
My age: 36, 37 @due date
The risk for DS went from 1/250 to 1/42. My amnio is scheduled for the day of my 15th week.
Have you ever seen blood levels so high at 1st trimester? If not DS, what could it indicate? Please help you have seen so much! Mumma K
At Wed Dec 17, 05:41:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Rose: I am sorry, but I just received your comment from Oct 27 this week in my mailbox. The 'blogger' has had 'technical difficulties' lately. hCG levels usually stabilize in the range of 10-20000 units by 20 weeks or about 10-20% of the peak levels reached at the end of first trimester. With regard to the FISH, my only comment would be , "How fast do you need to know something?" FISH will often give you an answer regarding common chromosomal abnormalities in about 72 hours. And, most of the time, the answer you get with FISH ends up being the final diagnosis - but, not always. Anyway, as is always the case in circumstances such as yours, I hope everything turned out okay. Please let us know if you find your way back to this site and get this response. Best wishes! Dr T
At Fri Dec 26, 07:01:00 AM 2008,
Anonymous said…
Dr T,
I want to thank you in advance for taking time to answer my question.
I will be 34 years old when I deliver my baby. This is my first baby.
My Ultra-screen first trimester screening results:
Mat. weight: 115
Ethnicity: Aisan
NT(mm): 1.7
CRL(mm): 50.4
GA@U/S: 11w4d
Free beta hCG(MOM):1.6 (percentiles 80)
PAPP-A MOM: 0.58 (percentiles 20)
Detla NT: +0.37
Nasal bone: present
Down syndrome 1st trimester cut off: 1 in 296
Down syndrome before screening: 1 in 337
Down syndrome after screening: 1 in 1201
The technician and my OB told me that I have low risk. But I am still very worried. Why other women at my age would have a result of 1 in 3000?
Thank you,
Joy
At Mon Dec 29, 06:14:00 PM 2008,
Anonymous said…
Hi Dr Trofatter. I hope you are around at the festive season to answer my questions. I have a healthy 2 yr old boy. This is my second pregnancy conceived naturally. I had some nausea with my first pregnancy but absolutely none with this one. I am 36 yrs old.
I had an amnio on Dec 24th based on the following results:
25-Nov 1st trimester screening: Blood test and scan done on same day.
CRL = 45.0mm
NT = 0.9mm
B-hcg = 11.4 IU/L ~ 0.215 MoM
PAPP-A = 0.090 IU/L ~ 0.150 MoM
LMP dating: 12wk4d
Scan dating: 11wk
Overall risk: 1:201 DOwns and 1:45 Trisomy 18/13
I also had an earlier blood test done on 14 Nov.
B-hcg 13.31 IU/L
PAPP-A 0.05 IU/L
I was informed at the time of the amnio that my risk was predominantly that I will miscarry with such low hcg levels. And that these levels also crossed over into showing a risk of genetic abnormality. Hence the amnio was recommended. The amnio procedure went well but I am still waiting for results from the genetic analysis. At the amnio the baby had a heartbeat and had grown since the scan at 11 wks.
Genetic abnormality has become my secondary concern now, as I have been told to prepare for the worst - that I will most likely miscarry. Is it still possible to carry a pregnancy through to term with this low level of hcg? If this happens are there other complications that could reuslts from low hcg? How severe are these complications, if any? Is there anything I can do to prevent a miscarriage?
I am now 16 wks according to the scan dating.
Thanks
Judy
At Wed Dec 31, 08:28:00 AM 2008,
Anonymous said…
Hi Dr. T,
I'm hoping you can help me out. I just got off the phone with my doctor's office and need help in clarifying my results of 1st trimester screening. Here are my results:
Maternal Age at EDD: 29.5
Weight: 173
Race: Caucasian
Gestational age at collection date: 12.1 weeks
Nuchal Translucency: 1.2 mm (.81MoM)
Hcg Value 46.6 IU/mL (.64 MoM)
PAPP-A Value: 1.14 mIU/mL (.83 MoM)
The lab work lists Trisomy 18Screening risk at <1/10,000
and the age risk at 1/3130 and the Trisomy 21 Screening Risk at <1/10,000 and Age risk at 1/804.
The office told me that the 1/10000 numbers were my baseline risk based on my age alone and that the higher risk numbers were my risk based on the blood work and NT scan. This seems backwards to me the way its listed on the lab work that I have in front of me. Can you shed some light on this for me? Thanks.
Jen
At Thu Jan 08, 04:17:00 PM 2009,
Shan said…
Hi many thanks for having this information available.
I am currently 14 weeks pregnant with number 2. We had an amnio with Jakson at 16 weeks as we had a 1:252 chance of trisomy 21 and it was recommended to us. He is happy and healthy.
Now with this bub my nuchal results are as follows
NT 1.3mm
Free BHCG .356MoM
PAPP-A .223MoM
Risk for trisomy 21 is 1:2033
Risk for trisomy 13,18 is 1:242
I am obviously very concerned about this figure and can't stop thinking about it. My doctor isn't too worried and suggested against an amnio and just have a detailed scan at 18 weeks.
Are both the blood results decreased? Is there any other reasons for this to occur with a normal bub?
I had 2 miscarriages before falling pregnant with this bub and the last one beinf 4 weeks before I fall with this one. I also have factor v leiden and am taking clexane daily. Could any of this play part in the results being decreased?
Many thanks in advance
Shannon
At Fri May 15, 10:42:00 AM 2009,
Anonymous said…
Dr.T,
Could you please take a look at my screening results and let me know what you think? This is my 3rd child and I'm concerned because I already have a child with Down Syndrome (2nd child). My NT measurement is fine and my recent ultrasound shows nothing wrong with the baby.
Age at term: 39
1st screening done at 13.3 wks
HCG 2.14 MoM
PAPPA 1.31 MoM
NT measurement 1.6 mm
2nd screening done at 16.4 wks
HCG 2.29 MoM
Inhibin 1.44 MoM
UE3 0.63 MoM
AFP 1.12 MoM
My risk was determined to be 1/140 for Downs and 1/10,000 for T18.
Cris
At Fri May 15, 11:03:00 AM 2009,
Anonymous said…
Dr. T,
I am concerned with my test result because I already have a daughter (2nd child) with DS. I am most concerned with my HCG level. Can normal babies have high HCG levels?
Age at Term: 39
1st screening at 13.3 wks
HCG 2.14 MoM
PAPPA 1.31 MoM
Cut off was at 1/100, my risk was 1/170.
NT measurement 1.6 mm
2nd screening at 16.4 wks
HCG 2.29 MoM
Inhibin 1.44 MoM
UE3 0.63 MoM
AFP 1.12 MoM
My final risk shows 1/140 for DS and 1/10,000 for TS18.
My recent 2D ultrasound couldn't detect anything wrong with the baby.
At Mon May 18, 09:17:00 PM 2009,
Anonymous said…
Hi Dr. Trofatter,
I underwent my First Trimester Screening and would appreciate if you can help me to interpret or understand the result:
Age: 32,
Non-smoker,
Non-Drinker
One mis-carriage previously,
Current baby conceived via IVF
Gestational Age: 12 weeks 1 days
Crown-Rump Length (CRL): 56.8mm
Nuchal Translucency (NT): 2.4mm
Nasal Bone: Seen
Free Beta-hCG: 1.145 MoM
PAPP-A: .372 MoM
Triscomy 21 Risk: 1:29
I was told the result is not good as the NT scan and hcg/papp-a all tend to a higher side.
I was recommended to go for CVS to confirm.
1. Can you advise me what is the acceptable range/level for CRL, NT, Free Beta-hCG and PAPP-A? I heard people talking about percentile, so what is my percentile based on the result?
2. Is the result an indication of high-risk to my baby?
3. Will IVF produce a false-positive reading?
4. To stabilize my pregnancy, I was prescribe with Progesterone. Will the medication affect my blood-test or scan?
Any advise is greatly appreciated as I am very depressed by the result. Thks.
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