Abnormal First Trimester Screening Results

Thursday, January 04, 2007

Kenneth F. Trofatter, Jr., MD, PhD

As one of my end-post promises, I wanted to return to the issue of dealing with ‘abnormal results’ that return with first trimester aneuploidy screening. Again, this is not a straightforward discussion. One of the first issues that has to be addressed is what constitutes an ‘abnormal result?’ Remember, this is not a diagnostic test, it is a screening test, and the result that comes back does not necessarily mean the baby has or does not have the condition for which it is being screened. It provides a risk estimate that is, albeit, generally better than that provided by ‘age alone’ counseling because specific data related to the pregnancy (fetal measurements; pregnancy-specific serum analytes; maternal characteristics and risk factors) are included in the actual risk assessment. Even then, there is not a ‘normal’ or ‘abnormal’ result (although some organizations have elected to classify results as either “risk positive” or “risk negative”) and, to some degree, because the result sits somewhere along a continuum, the risk assessment result needs to be interpreted within the context of the patient’s own risk tolerance. Some folks play nickels in Las Vegas and others hundred dollar chips. Still, as providers, we need to offer some guidance to the patient. It is not fair to place the entire burden of decision-making related to this very complex issue on the patient alone, although, in the end the final decision as to what they do with the information given to them is their decision. The goal should be to make them feel comfortable about their choices.

There are several steps that I take with patients when presenting their screening assessment results. First, I reiterate that we (me and our genetic counselors) are there to provide them with information, review the test results, review their options for further fetal evaluation, answer their questions, and help them to decide what the best course of action is for them, reminding them up front that we will not tell them what to do. In fact, I make it quite clear that I do not care what they do! I then present the risk assessment results and compare this to their age-related risks. I also remind them that this screening test is most successful at diagnosing trisomies 21, 18, and 13, that it may pick up some other, but not all, chromosomal abnormalities, and that it may also miss a small percentage of those abnormalities it is most reliable in detecting. Before I ask for any decisions on their part, I review the risks and benefits of other screening and diagnostic options and suggest that they use this information to help balance the decision-making process.

With regard to the diagnostic options, I focus on two procedures, chorionic villus sampling and amniocentesis, reserving a discussion about percutaneous umbilical cord sampling, or cordocentesis, for special circumstances. I explain the differences in techniques (CVS as a transcervical, or transabdominal, placental biopsy and amniocentesis as a transabdominal technique, sampling 20-30cc of the amniotic fluid with a thin needle) and the risks of pregnancy complications related to the procedures. For counseling purposes, I have stuck with a 1% risk for CVS over the years and have drifted from the classic counseling of 1 in 200-300 risk for amniocentesis to less than 1 in 1000 (which our own experience and recent publications would support). I also explain the options and limitations of rapid (48-72 hr) diagnostic techniques (such as fluorescent in situ hybridization, or FISH) and always suggest these be considered when a specific chromosomal abnormality is highly suspected. I always conclude this part of the discussion with a statement to the effect that they have the option for an invasive diagnostic test, regardless of the risk assessment results, and that the choice depends on their risk tolerance and their ‘need to know’ or need to get more information. I emphasize that these latter questions should take priority over the question of what they would actually do with the information once they had it. The reason I can state that with confidence is that, over the years, it has become quite clear to me that many people DO NOT KNOW what they might do (regardless of age, race, religious, ethnic, spiritual, or socioeconomic background), even with a documented fetal chromosomal abnormality, until they are actually faced with that decision.

I then ask if they have any questions and I always get the response, “Doctor, what would you do if you were in our position?” I can then answer that honestly by telling them that “I am not in your situation and I don’t know what I would do if I were. But, I can give you some general guidelines based on counseling that is offered in other places around the country and the world.” Many institutions routinely recommend CVS when the first trimester risk is greater than 1 in 100. If the pregnancy is beyond the gestational age at which the institution will do a CVS when the result comes back, then an amniocentesis at about 16 weeks is offered.

If the risk is less than 1 in 270 (in the range of the risk of a 35 year old woman to have a baby with Down Syndrome and also the risk range typically quoted for amniocentesis), we currently offer maternal serum α-fetoprotein (MSAFP) screening only at about 16 weeks and a ‘targeted’ ultrasound examination at 18-20 weeks. The MSAFP screening can provide information about risks for certain fetal abnormalities, such as neural tube defects and abdominal wall defects (usually readily detected at the time of ‘targeted’ ultrasound alone), but of equal importance may suggest, if the results are abnormal, an abnormality of placentation that could put the pregnancy at increased risk for complications and might warrant a change in our recommendations for follow-up.

If the risk falls between 1 in 100 and 1 in 270, amniocentesis is generally offered and if the patient is averse to this, then the second approach outlined above is recommended. Many women will choose the latter approach because, during their counseling, we also inform them that a completely ‘normal’ targeted ultrasound probably reduces their a priori risk (based on the combined first trimester screening result) for aneuploidy by 60-80%., thereby placing them below the risk of a 35 year old woman without the need for an invasive diagnostic study. Indeed, we have found that one of the primary advantages of first trimester screening and midtrimester screening, coupled with ultrasound, is that we have found ourselves performing far fewer invasive procedures than we have done in the past (putting fewer pregnancies at risk from that standpoint).

I want to make it clear. At present, there is no uniform approach (‘standard of care’) to management of the results obtained by first trimester screening. This is the approach we have chosen and, it may change next week, or be very different from that offered at other institutions. The important things are to provide a reliable service within the constraints of the diagnostic capabilities available locally and to make the patient feel comfortable with the decision they make for additional screening, a diagnostic study, or no follow-up at all.

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315 Comments:

At Wed Jul 11, 07:00:00 AM 2007, Anonymous said…

I'm reading this as I wait for my test results. This gives me a good frame of reference, thanks.
At Fri Jul 13, 07:34:00 AM 2007, Kenneth F. Trofatter, Jr., MD, PhD said…

Thanks. Hope things turn out well. I appreciate your comment!
At Tue Jul 17, 11:12:00 AM 2007, Anonymous said…

We learned yesterday from first-trimester screening results that we have a 1 in 110 risk of having a baby with Down Syndrome (decreased from my age-related risk at age 41 of 1 in 34). I was told this is still considered a "positive" result, because the standard is 1 in 240. Hearing the counselor call our results "positive" for Down Syndrome was frightening. I appreciate your description of what these results mean. This has helped me to put it in perspective and understand what the risks really are. I'm not sure that labels such as "positive" or "negative" are very helpful in these cases.
At Wed Jul 18, 04:32:00 PM 2007, Kenneth F. Trofatter, Jr., MD, PhD said…

To Anonymous July 17: The results are what they are. You have a 1 in 110 chance of having a baby with Down syndrome. That means you have a 109 out of 110 chance of having a baby that does NOT have Down syndrome. I, personally, do not like the "positive and negative" way of presenting things to patients. How you use that number to make further decisions regarding additional screening and/or diagnostic testing depends on your personal level of risk tolerance. If you opt for a diagnostic test, I would suggest an amniocentesis at 16 weeks. The risk of that procedure in experienced hands is generally less than 1 in 1000. The other alternative is to simply consider having a "genetic sonogram" at 18-20 weeks. If there are no fetal abnormalities or significant "markers" for aneuploidy at that point (again, by an experienced examiner), your a prior risk based on the first trimester screen (not your age)is reduced by at least 60-80% (I usually quote people 90%). Do what is MOST COMFORTABLE for you. Thanks for reading and for your good question.
At Thu Jul 19, 03:34:00 AM 2007, Anonymous said…

Hi there

We recently had to terminate our pregnancy at 19 weeks when we discovered from a routine scan that our baby had a genetic syndrome. After delivering him, we were told he had hypophosphotasia syndrome, that both myself and my husband are carriers of the gene - although we have no symptoms ourselves - and there is a 1 in 4 chance that it could happen again. We'd only be able to determine this next time at 12 weeks with CV sampling. I see in your previous post you mentioned there was only a 1% risk to the baby which is great news, but how is this procedure done and do you think there is any way for us to decrease the chance of this happening again? (like modifying our genes and using IVF?)
Of course, we're remaining positive and will try again for sure, but I'd like to know for the future if necessary.

Thanks very much,
Leah
At Fri Jul 20, 03:30:00 PM 2007, Kenneth F. Trofatter, Jr., MD, PhD said…

Hi Leah, I am so sorry fo your loss. Yes, you probably do have a 1 in 4 chance of having another child (male or female) with hypophosphatasia if you have the type that is caused by autosomal recessive inheritance. If you would like to learn a little more about CVS, check out my post of May 3, 2007. There is no "gene therapy" or medical therapy at this time available to help you.
The IVF question is a good one though! There are certain inborn errors of metabolism that can be diagnosed by taking a single cell from an early embryo. This technique is called preimplantation genetic diagnosis or PGD. Basically, you undergo an IVF cycle and they harvest a cell from as many healthy appearing embryos as possible to test for the abnormality. They then only put the 'healthy' ones into your uterus. I do not know if this can be done for hypophosphatasia, but you might want to check with a genetic counselor about that and a specialist in Reproductive Endocrinology and Infertility (REI) who does IVF and PGD. Thanks you so much for reading and for your great questions!
At Thu Aug 02, 01:40:00 PM 2007, B.G, bx said…

First let me say that my heart goes out to all who have had to deal with this. i too had a screening done in the first trimester and it came back at "high risk" possitive for downsyndrom and I have three childrem already and never had to worry about this, but they say not to worry till I do the amnio b/c there have been cases where a false possitive test have been made is this at all possible?
At Fri Aug 17, 02:14:00 AM 2007, T said…

Dear dr T. I would let you know how our amnio has went. We had an amnio at 14 2/7 weeks pregnancy, pretty early but I had confidence in the doctor who performed it that day, so decided to do it. Everything went well and we've had good results yesterday from the FISH test. This morning we've had an ultrasound and everything looked great. I want to thank you for your advice and sympathetic words. Greetz from Holland, T
At Fri Aug 17, 05:24:00 PM 2007, Kenneth F. Trofatter, Jr., MD, PhD said…

To T August 17: That's fantastic! Now, don't you feel better!?! Hope the rest of the pregnancy goes smoothly too. If you think of it, let me know after you have the baby! Dr T
At Mon Aug 27, 01:25:00 PM 2007, Anonymous said…

I had a 1st trimester screen and while most of the results came back normal, my PAPP-A level was 0.25 MoM (which the counselor told us was very low). My hCG was .78 MoM. She said that there is an increased risk for low birth weight but nothing else. I have done some online research though and seen that a low PAPP-A can also mean an increased risk for stillborn and delayed fetal development. Is that true? Can you shed any light on the PAPP-A result on its own. (Like I said, all other test results were within a normal range).

thanks, K
At Sat Sep 01, 08:09:00 PM 2007, Kenneth F. Trofatter, Jr., MD, PhD said…

To K Aug 27: Pardon the delay in my response, but the reason I took so long was because the questions were so good that I decided to devote an entire post to the topic. See my post from today, September 1, 2007. Thanks for reading and I hope this answers some of your concerns. Best of luck for the rest of the pregnancy. Dr T
At Fri Sep 14, 10:52:00 AM 2007, Anonymous said…

I received my screening results and was given a 1:86 chance of Downs. I'm 35. Only my HcG levels were elevated. My PAPP-A was 1.4 and my NT was 2.4 which I was told was in the 90%ile for the size of the baby and anything above 95% is considered elevated. Given that I don't "fit the pattern" with elevated HcG, decreased PAPP-A and elevated NT- am I facing better odds that the baby is fine? Could my HcG levels be elevated "just because" that's how I am?
At Fri Sep 14, 04:55:00 PM 2007, Kenneth F. Trofatter, Jr., MD, PhD said…

To Anonymous Sept 14: Please see my response to Anonymous July 17 above. The answer is basically the same. The odds are what they are, regardless of the combination of measurements, serologic markers, and demographic information that led to them! You have a 1 in 86 chance of having a baby with trisomy 21. (That is about twice your 'age alone' risk and probably a more reliable 'risk estimate' as well because it deals with real numbers based on you pregnancy and not a population of women at your age). That also means you have a 85/86 chance the baby does not have trisomy 21. The important questions you must ask yourself are "How fo I feel about those odds? Do I want to find out for sure before the baby is delivered?" If you would prefer not to have an invasive study done at this time, there are other options to consider. You could have an early anatomic survey of the baby done by ultrasound at 16 weeks and couple that with a maternal serum marker panel ("quad screen") which will give you another asssessment of "risk." Some labporatories will combine the first and second trimester data into a single integrated risk assessment. Or, you could just have a "genetic sonogram" done at 18-20 weeks. If that is completely normal, your a priori risk (based on the screening tests, not your age)for a baby with trisomy 21 can be redusce 60-90% depending on the experience of the ultrasonographer. Thank you for reading and my best wished for your pregnancy. Dr T
At Sat Sep 15, 07:58:00 AM 2007, Anonymous said…

I am 25 years old and have just received first trimester screening results. The free beta hCG measured 2.5MoM and PAPP-A 0.5MoM. The NT scan, done by a very experienced sonographer, was 1.0MoM. Because of the blood results, our risk of DS increased more than 3 fold to 1/295. I have been doing research online but haven't been able to find information on the situation where blood test results match markers for DS while the NT is considered normal. While our risk is just 1/295, I am very worried that the blood markers are a match for DS. We are being offered diagnostic testing - CVS or Amnio, depending on our risk tolerance/ability to wait. Can you provide insight on this pattern of test results?
At Tue Sep 18, 09:42:00 AM 2007, Kenneth F. Trofatter, Jr., MD, PhD said…

To Anonymous Sept 15: See the blog I posted on September 14, 2007 on "Another Reader's Comments Regarding First Trimester Screening for Aneuploidy." I would have the same answers and questions for you! Personally, if you were one of my patients, I wouldn't recommend anything more than an amniocentesis (if anything other than a 'targeted ultrasound') at that risk estimate because the risk of the procedure is so low (< 1 in 1000 in experienced hands). But, YOU are the person who has to make the decision, because you have to live with it! Ask yourslf the questions I asked the other reader and when you have the answers, you will be ready to decide what if anything else you have to have done at this point. Do not ask yourself, what you might do with the information! We have found that people cannot honestly make decisions in that regard until the information, good or bad, is in hand. Best of luck...the odds are in your favor, so I anticipate a good outcome here. Thanks for reading! Dr T
At Thu Oct 04, 12:30:00 PM 2007, Anonymous said…

Thank you for this very helpful column. I just found out that mu ultra screen results show that we have a 1 in 109 risk of having a baby with Down Syndrome. We will probably have an amnio, but I'm curious: I've been reading that false positive results could be caused by incorrect pregnancy dating. When I had the ultrascreen done, I thought that I was exactly 12 weeks pg, but the ultrasound changed my due date, making me actually 13 weeks pg. Is it possible that this dating problem could result in a false positive result or even in a an invalid test, since the test is supposed to be done within a specific timeframe. thanks in advance for your response. best, jml
At Mon Oct 08, 11:10:00 AM 2007, Anonymous said…

I am 31 years old and 12.5 weeks with twins. Twin B has a 1 in 840 chance of DS but Twin A has a 1 in 19 chance. Although I know that means there is a 95% chance that Twin A is perfectly fine, I'm still freaking out. I've been told the next step is quad screen & ultrasound and then we have to weigh our options re: amnio depending on those results. Is there anything else we can do? We conceived via IVF (2 tries) and are very anxious to know what is going on.
At Thu Oct 11, 06:40:00 PM 2007, Kenneth F. Trofatter, Jr., MD, PhD said…

To Anonymous Oct 8: It sounds like you really need to know, so I would suggest forgoing the quad screen and having an ultrasound and the amniocentesis at 16 weeks. In experienced hands, the risk of the amnio should be less than 1 in 1000. If they do FISH, you can have a result back in about 72 hours. I wish you the best and let me know how things turn out. Dr T
At Mon Oct 15, 01:19:00 PM 2007, Kenneth F. Trofatter, Jr., MD, PhD said…

To jml Oct 4: You are correct, the actual gestational age can affect the outcome of the risk assessment results. The biochemical markers (free beta-hCG and PAPP-A) seem to be more reliable at the earlier gestational ages. So, if they used the gestational age based on their measurements and the baby was really only 12 weeks, or if they used your "dates" and the baby was really 13 weeks, either way the results lose accuracy. Do you know how wide the nuchal translucency measurement was and/or the actual results of the biochemical markers? Also, how old will you be when you have the baby? In other words, which factors seemed to contribute most to the 'at risk' result. Your options from this point forward depend on your 'risk tolerance'. Some folks will go directly to amniocentesis; others will have a "quad screen" done (with or without another sonogram at 16 weeks); some will simply wait until 18-20 weeks to have a thorough 'genetic sonogram' done with the understanding that if the baby has no gross abnormalities or markers for aneuploidy at that point, the a priori risk (based on the first trimester screen) is reduced as much as 90% (I usually quote folks 60-80%). Thank you for reading and best wishes for the rest of your pregnancy! Dr T
At Thu Nov 01, 06:21:00 AM 2007, Anonymous said…

I am 41 and just got the results from my First Trimester Screen. I was pleased to see our risk for DS had lowered to 1/795, but surprised to find our risk for Trisomy 13/18 had only lowered to 1/287. It seems like most people receive results the other way around with a risk for trisomy 13/18 in the thousands.

I know that at 11 weeks 4 days our NT was 1.3, but I'm wondering if you could tell me what part of the blood would cause the trisomy 13/18 to be a higher risk than DS.

Thank you.
At Mon Nov 05, 12:11:00 PM 2007, Kenneth F. Trofatter, Jr., MD, PhD said…

To Anonymous Nov 1: Without the actual results, I cannot tell you what contributed the most to the trisomy 18 risk assessment. With regard to the blood work, however, BOTH the PAPP-A and the free beta-hCG tend to be lower in pregnancies at risk for trisomy 18. You've still got pretty good numbers, so don't panic. But, remember, if you can't sleep with results without knowing, you always have the option to have an amniocentesis performed, regardless of the risk assessment results. Thanks for reading and good luck. Let us know how things turn out! Dr T
At Tue Nov 06, 05:37:00 AM 2007, Anonymous said…

hi there, iam 33 yrs old im 12 weeks pregnant i had my nt scan with result of 2.8 my blood tests result shows bhcg of 1.21, papp of 0.33 there told me my papp is low and i have a 1;6 ratio of having a baby with down sundrome i think its too high...how do they calculate this ratio?
At Tue Nov 06, 12:45:00 PM 2007, Kenneth F. Trofatter, Jr., MD, PhD said…

To Anonymous Nov 6: This risk is not based on any one of the studies alone. It is based on age, hCG and PAPP-A levels, weight, NT measurement, crown rump length of the baby, gestational age and other factors. Each of these factors carries different weights. Your composite results are compared to a very large data bank of 10's of thousands of patients to generate your risk result. In your case, I would bet the low PAPP-A and the NT probably contributed the most to your increased risk. I would take the number seriously and consider a diagnostic study to find out for sure, but in the end, the choice is yours. I do wish you luck and thank you for reading. Dr T
At Wed Nov 07, 06:34:00 AM 2007, worried mom said…

Hello Dr.,
I am 29 years old and got the results of my NT scan yesterday. They told me I do not have an incresed risk of Downs Syndrome (NT fold measured 1.1mm) but that the Trisomy 13/18 came back at an increased risk of 1 in 31. I will most likely have the amnio to confirm this, but what is it that makes the trisomy 13/18 come back at such a high risk when the downs is not? All of my sonograms have looked perfect so far - if the baby really did have trisomy 13 or 18, wouldnt they have noticed something by now or wouldnt it have miscarried on its own?
Thank you!
At Sun Nov 11, 08:09:00 PM 2007, Anonymous said…

I am 28 years old, and I received a positive first trimester combined screen. My risk for down syndrome is 1 in 112, and my NT was 1.2mm, my beta hCG was 2.42 (95th percentile) and my PAPP-A was .38 (10th percentile). I am having a CVS in a couple of days. I am wondering if it is possible to have an unaffected fetus with such a high hCG and such a low PAPP-A? If it is not down syndrome, what other health issues should I be concerned about considering those values. Also, the NT value appears to be low - should I take this as a good sign, despite the hormone levels? Thanks for your help.
At Tue Nov 13, 07:06:00 AM 2007, Linda said…

Dear Dr. T,

I just got back readings of PAPP-A 0.72 MoM, bhCG 1.53 MoM, nuchal fold 1.3/1.6/2.1 mm (the 3 measurements were taken in quick succession during one appointment). I am 37 and will be almost 38 at term. My risk was calculated at 1 in 184. My doctor recommended an amnio. However, I just read the results myself and found they have dated my pregnancy as 13w,5 days and it is actually 12w,6days. This makes quite a difference. How can I re-calculate the MoM values for the correct fetal age? Is there a program anywhere out there that I can use? It would reassure me greatly as I really would prefer not to have an invasive test.

Many thanks,

Linda
At Tue Nov 13, 05:03:00 PM 2007, Kenneth F. Trofatter, Jr., MD, PhD said…

To Worried Mom Nov 7: With that very 'normal' NT measurement, you must have had very low PAPP-A and free beta-hCG results. That is what usually drives the risk for trisomies 18/13. Most of these babies will miscarry early, some later, and some not at all. Sometimes the babies do not look very abnormal in first trimester, but almost all will by 18-20 weeks. I think the amnio is a very good idea under these circumstances; however, even if the baby is chromosomally normal (which I certainly hope is the case), the low maternal serum marker levels may put you at increased risk for other pregnancy complications. Best of luck to you and please let us know what you find out. Dr T
At Tue Nov 13, 05:09:00 PM 2007, Kenneth F. Trofatter, Jr., MD, PhD said…

To Anonymous Nov 11: Yes it is certainly possible to have a normal baby with these numbers. In fact there is a 111/112 chance the baby IS normal! The low NT measurement is already factored into this risk ratio, so hopefully, it was an accurate measurement. Abnormalities of maternal serum markers are associated with increased risk for other pregnancy complications. If the CVS indicates the baby is chromosomally normal, ask your doctor and/or a good genetic counselor to explain those other risks. Please let us know the results. We are all pulling for yopu. Thanks for reading and good luck! Dr T
At Tue Nov 13, 05:12:00 PM 2007, Kenneth F. Trofatter, Jr., MD, PhD said…

To Linda Nov 13: The computer program is proprietary and not in the public domain. You will have to ask your doctor to resubmit the proper due date to the company that generated your risk result and they will recalculate a risk estimate free of charge. It just takes a quick phone call. Thanks for reading. Dr T
At Wed Nov 14, 06:09:00 AM 2007, worried mom said…

Thank you, Dr. T! Yes, we met with the geneticist and my levels were very low - HCG was .21 MoM abd PAPP-A was .22 MoM which is why the risk of trisomy 13/18 came back so high. I have my amnio scheduled for Monday (at 15w2d), and am hoping and praying that all is okay. My Dr and the geneticist told me that people with my low hormone levels do go on to have healthy babies, and so I am trying to focus on that. What are the increased risks that i will face because of these low serum levels?
At Wed Nov 14, 06:09:00 PM 2007, Kenneth F. Trofatter, Jr., MD, PhD said…

To worried Mom: If the baby is chromosomally normmal and the maternal serum markers are low, you are at increased risk for complications related to 'abnormalities of placentation' that lead to a small placenta and/or a placenta that has a high resistance to fetal and/or maternal blood flow. The main risks are for intrauterine growth restriction, hypertensive disorders of pregnancy (preeclampsia), and the need for early delivery and cesarean section as a consequence of the first two (which often accompany each other). And then again, you still might have no complications whatsoever! Let us know how things turn out. Good luck with the amnio. Dr T
At Fri Nov 16, 02:25:00 AM 2007, Linda said…

Dear Dr. T,
I have now asked my doctor to request recalculation of the odds based on the correct timing but he resisted, telling me that the ultrasounds he took dated the fetus 1 week older than my dates. However, this is strange as(i) I did an ovulation test so know my ovulation date precisely and (ii) I was not in the same country as my husband on the date the doctor proposed I got pregnant (and he is the only man in my life!) How can the fetal age be 1 week out? Thanks, Linda
At Fri Nov 16, 11:48:00 AM 2007, Anonymous said…

Dear Dr,
First of all, thank you for having this forum to help educate us and hopefully ease some concerns.

I am 39 and received a 1 in 12 risk for DS after taking the 1st trimester bloodtest last week. My ultrasound went well and the doctor was pleased with neuchal (1.2),translucency (1.8) and crown -rump (60). I was saddened to hear the hormone testing didn't fare so well. I had 1.53 mom HcG and .33 PAPP-A. I am just sneaking in for a CSV (I will 14 weeks) on Monday to determine more. I am wondering what other factors could contribute to the hormone levels?
Are they off by alot? I have a very healthy 16 month old baby girl and we had no complications what-so-ever with that pregnancy.

I am stressing out on this and couldn't even escape it with sleep last night- had awful nightmares.

Help me understand this all better please...

Thank you so much for any insight!
At Fri Nov 16, 11:53:00 AM 2007, Kenneth F. Trofatter, Jr., MD, PhD said…

To Linda Nov 16: If you're sure of when you got pregnant under these circumstances, then you are probably correct, but you will probably not be able to change your doctor's mind. 'Training' tends to put more faith in technology and the people using it than in the patient at times. There are wide ranges of normal variation even at 12-14 weeks and there is also great variation in fetal measurements depending on the person doing the study, the position of the baby, etc. Because of the questions that your doctor might raise, it's probably just better to drrop it. I am not sure it will make that much of a difference in the interpretation of the maternal serum markers anyway. However, it would not have cost your doctor anything to have asked for a reinterpretation of the results based on your date of conception and then allowed you to make the decision about what you did with those numbers. Wish I could help, Linda! Let us know how things turn out and best wishes again! Dr T
At Fri Nov 16, 12:17:00 PM 2007, Anonymous said…

Dr. T - this is Anonymous from Oct. 8th. We had our Level II ultrasound today and were told that both babies looked completely normal and had no markers for Down's. We have boy/girl twins and the Doc thought that perhaps b/c the girl was the baby with the thicker NT and was smaller in size, that is what put us at an increased risk.

While we know that u/s is not a diagnostic tool, we feel confident in the results and have decided not to do an amnio or take any further steps as we would not terminate anyway. Just wanted to update you. Thank you for your kind words during my time of need.
At Fri Nov 23, 06:50:00 PM 2007, Kenneth F. Trofatter, Jr., MD, PhD said…

To Anonymous Nov 16: At your age and with those levels of the serum markers, you are indeed at high risk for having a baby with Down syndrome. BUt there is still a 11/12 chance you do not. Have the CVS done and let us know the results. If the baby does not have Down syndrome or another chromosomal abnormality, we can talk more about what the serum markers might mean for the pregnancy. We will be pulling for you. Best wishes. Dr T
At Mon Nov 26, 08:14:00 AM 2007, Anonymous said…

I received a positive risk of the quad screen (at 15 weeks 4 days)for trisomy 18 at 1:52. I have always thought that I had a later due date then April 7 because I tend to have irregular, longer cycles due to PCOS. I have my high resolution (but not level 2)ultrasound on Tuesday (at 21 weeks 1 day)due to my mom's recent cancer diagnosis. Do you think that a week or due later due date would change the Trisomy risk considerably? Also, do you think that if it is Trisomy 18 that it would be pretty clear if we really are 21 weeks? We have decided not to do amnio either way.
At Mon Nov 26, 10:04:00 AM 2007, Kenneth F. Trofatter, Jr., MD, PhD said…

To Anonymous Nov 26: Did you have an earlier ultrasound or any other risk factors? If you really were only 14 and a half weeks at the time of you maternal serum screen, it WILL be inaccurate and a week will make a big difference in the interpretation of the results. Regardless, at 20-21 weeks when you have the ultrasound done, 90%+ babies with trisomy 18 will have significant fetal abnormalities present. Reserve your final decision regarding the amnio until then. It really is a very safe procedure (risk < 1 in 1000 in experienced hands that late in pregnancy) and sometimes it is good to find out for sure, one way or the other, so that you can rest more easily and/or prepare for the outcome. Thank you for reading. Dr T
At Mon Nov 26, 01:25:00 PM 2007, Vee said…

I'm 31 and had my screening today at 13 weeks.
My hCG is 3.23 and PAPP-A 1.08 and Delta NT 0.71.
I'm in the 99 percentiles for the hCG!!! What can cause such a high number if it's not DS?
Thanks.
At Thu Nov 29, 11:57:00 AM 2007, Kenneth F. Trofatter, Jr., MD, PhD said…

To Vee Nov 26: I am curious, what did your final 'risk assessment' turn out to be with regard to Down syndrome? To answer your question, some pregnancies have higher hCG levels for reasons we never figure out and the babies are normal, some can have other chromosomal abnormalities, some can have 'partial molar' pregnancies or even choriocarcinoma (although the hCGs are usually MUCH higher with the latter). Let us know what you do and what you find out, okay? And, thanks for reading. Dr T
At Thu Nov 29, 12:03:00 PM 2007, Vee said…

Thanks for your reply. I did get a screen negative result and they did not recommend any invasive testing. The baby and placenta looked good on the u/s.
So it was only the hCG levels that were not "normal".
At Thu Nov 29, 06:47:00 PM 2007, Anonymous said…

Wow, I wish I had come across this blog earlier. We are very confused over our results. Maternal AFP = 38. MOM AFP = .82. Maternal HCG = 88300 and MOM for HCG is 3.33. E3 MOM is .87 and INHIBIN MOM is 1.54. I am 31 and the test was taken at a gestational age of 16 weeks.

The report said that I now have a risk of 1 in 63 for Down. I have been researching on the Net and it seems like my levels are normal. Do you agree that they are not. We are having our amnio tomorrow.
At Fri Nov 30, 03:46:00 PM 2007, badidang said…

when i was 11 weeks i had my blood test done and they said i have a 1:6 chance of having baby with ds...then at 15 weeks i have my blood test done taken again and doctor said result looks fine. afp:13.70afpmom 0.49, hcg 21.90. hcg mom 0.82, ue3 1.78. uE3mom 0.77 and bas eon these result i have 1:1400 chance of getting a baby with ds..sound better .. do i need to have amnio done? or these figures are good not to have the amnio done?
At Sun Dec 02, 08:28:00 AM 2007, Kenneth F. Trofatter, Jr., MD, PhD said…

To Vee Nov 29: Great Vee! Good luck with the rest of the pregnancy and let us know how things turn out! Dr T
At Sun Dec 02, 08:35:00 AM 2007, Kenneth F. Trofatter, Jr., MD, PhD said…

To Anonymous Nov 29: I am sorry, but I am having a hard time interpreting some of the values from your studies. But, actually, that is irrelevant. It is not the individual tests that necessarily determine your aneuploidy risk, it is the COMBINATION of the results and other factors such as age, weight, medical problems, previous history, etc. So, the risk for the baby having trisomy 21 is 1 in 63 which is about 4 times the risk of a 35 year old woman based on 'age alone'. That does mean the chance the baby is 'normal' is 62 in 63, so how you look at things will be determined by your own 'risk tolerance'. If you decide not to have invasive diagnostic testing (an amniocentesis), the least I would recommend is a 'targeted genetic ultrasound' by an expert at 18-20 weeks. Good luck to you and let us know how things turn out. Thanks for reading and for your comment! Dr T
At Wed Dec 12, 10:03:00 AM 2007, Kenneth F. Trofatter, Jr., MD, PhD said…

To badidang Nov 30: It's not a matter of do you "need" to have an amniocentesis done, it's do you WANT to find out for sure. The first trimester test result is very scary to me, but I am not in your shoes. You might ask your doctor if the laboratory can combine the two screening test results to give you a composite or integrated result. The other options are to proceed with an amniocentesis or have a 'genetic sonogram' done by a qualified individual at 18-20 weeks gestation. If the latter is completely 'normal' the likelihood of having a baby with Down syndrome is reduced significantly by at least 60-80%. Good luck and let us know how things turn out. Dr T
At Fri Jan 04, 01:12:00 PM 2008, cindy said…

I will be 36 at the time of delivery and I just got my first trimester screening results. They are amazingly good that makes me worry. Trisomy 21 risk is 1/3647 and Trisomy 13-18 risk was calculated to be 1/9311. Aside from these, the only other number I know was the 1.9mm neck fluid. According to the doc, these numbers are what are given for a 20 year old (with no other test done.) Isn't it too good to be true? How often such a discrepancy between real age and ages associated with the risk comes up?
At Sun Jan 06, 09:44:00 AM 2008, Susy said…

Hi, I am 38 and had my 1st trimester screening done at 12 weeks and I was dated 12 weeks 6 days. My age related risk is 1 in 174 and my personal risk is 1 in 126 based on the following: PAPP A 2.55 (MoM .81), HCG B of 63.9 (MoM 1.55)and my NT was 2.5 (MoM 1.54). Could my HCG B be quoted wrong? It seems really high. What can contribute to a high PAPP A and is this a good or bad sign? What can contribute to a high HCG B? I have has several ultrasounds with no indication of a partial mole, good devolpment and strong heartbeat. I do have 1 fibriod 3.3 x 4.4 cm and my thyriod medication has been increased as I had gone hypo early on in the preganncy. Could these be contributing factors to my high HCG B? We are having a hard time deciding if we should have amniocentesis done or wait for our anatomical ultrasound. Any help will be greatly appreciated.
At Tue Jan 08, 11:15:00 AM 2008, Anonymous said…

I learned last week that I tested high-risk for DS. I'm 38. My results: 1.4mm NT, 1.09 Pappa-a, 2.04 free hcg. I was given a 1:155 ratio. I understand that hcg is more sensitive for determining DS from what my genetic counselor mentioned. I do not want an amnio. I would like to get a detailed ultrasound. If I were your patient, would you suggest getting an amnio which I can get at 15 weeks?
At Tue Jan 08, 01:11:00 PM 2008, Vee said…

I wrote earlier in Nov about my high hCG on the 1st trimester screening that did turn out negative in the big picture.
My quad screening in 2nd trimester did come out positive and I decided to have a amnio.
My result is a baby boy with chromosome XYY.
At Thu Jan 10, 08:23:00 PM 2008, Anonymous said…

Vee, I would be jumping up and down if I got those kinda of results. I have nephew that fits the description of XYY. He's gorgeous, outgoing (could make friends with a mailbox), and he does ok in school. He's never been held back and with some extra tutoring, he does really well. Did I mention he's very good at sports? Anyway, I'd be delighted to get the same results you did.
At Sun Jan 13, 10:37:00 AM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Cindy Jan 4: Congratulations and please, count your blessings rather than fret that something else must be wrong. Since the odds were in your favor the baby was normal (even if you were at increased risk because of your age), and the combined screening looks for things that are specifically related to YOUR pregnancy and not all women at your age, it is not at all unusual when the baby is 'normal' that we get back VERY reassuring test results. That's one advantage of the early screening. It cuts back dramatically on the number of invasive procedures women have to go through! Of course, if you are STILL worried, you have the option to have an amniocentesis done, but I certainly would not advise that under these circumstances. Thanks for reading and let me know how things turn out. Dr T
At Sun Jan 13, 10:42:00 AM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Susy Jan 6: In reality, your risk (within rnge of error and normal variation) is not different from your age alone risk. There is still less than a 1 in 100 chance that your baby has Down syndrome. I usually recommend that women wait an have a high level ultrasound done at 18-20 weeks before they make a final decision reagrdoing amniocentesis under these circumstances. In good hands, if all looks normal then, your risk is further reduced by at least 60-80% in experienced hands. Of cousre, I do not know you personally, and the ultimate choise is yours regarding the amniocentesis. I always tell patients that I am NOT the one who will have to live with that decision and it ultimately depends on what YOU are comfortable doing! Good luck, thanks for reading, and let us know how things turn out! Dr T
At Sun Jan 13, 10:45:00 AM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Vee Jan 8: Thanks for letting us know. Other readers will benefit by your willingness to share the outcome of your situation with us. I wish you all the best of luck. Dr T
At Mon Jan 21, 05:28:00 AM 2008, waiting in cinci said…

My ultrascreen came back last week with what is considered positive risk for DS-1 in 86. NT was measured at 1.2 and 1.6 so 1.6 is what they submitted. Apparently, and I'm not sure which or what the levels were, one of my blood proteins also bumped up our risk beyond what is normal for my age (I'm 32, which age only for DS is something like 1 in 417). Anyway, we are defintiely going with diagnostic testing-amnio-later this week (I'll be 15 weeks Weds). We are understandably anxious to get the results as quickly as possible and will be considering rapid results. Your post mentioned some limitations to these results, can you explain what they are.
At Tue Jan 22, 06:22:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To cinci Jan 21: The NT of 1.6measurement did not drive the increased risk results so it must have been the serum markers. The rapid fetal karyotype screening (FISH = fluorescent in situ hybridization) is very good at detecting the chromsomal abnormalities more commonly found such as trisomy 21 (Down syndrome). The FISH is always backed up with routine chromosmal testing because it can miss certain chromosomal abnormalities, especially subtle abnormalities, such as small chromosomal deletions, and it is not reliable in the assessment of mosaicism (two or more populations of fetal cells with different chromosomal complements). If the results of the FISH in your case return with trisomy 21, the overwhelming likelihood is that your baby has Down syndrome. But, at this moment the odds are still in your favor it doesn't. Best wishes and let us know what you find out. Thanks for reading! Dr T
At Thu Jan 24, 09:00:00 AM 2008, Anonymous said…

I posted a couple of weeks ago. My NT test results were 1.4 NT, Nasal bone seen, 1.06 pappa-a, 2.04fbhcg. I'm 38. My odds were
1:155. My husband and I went for an ultrasound at 16 weeks. All looked fine although they didn't get a good look at the heart since it's so small. We decided to have an amnio done. We just got the FSIH results that our baby does not have DS. Hope this helps otheres feel better about their results.
At Thu Jan 24, 02:17:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Anonymous Jan 24: Thank you for sharing the results and CONGRATULATIONS! Dr T
At Mon Jan 28, 10:24:00 AM 2008, waiting in cinci said…

From getting our ultrascreen results, we had to wait another week to schedule the amnio, last Friday. We waited anxiously all weekend and were expecting our FISH results back today at the latest. Turns out the lab screwed up and did not run the FISH as ordered. They are supposed to be running it now, but we were told that there is a very good chance it will not come out as it's supposed to be done right away. Now we may have to wait until the full panel on Friday. Emotionally, I am in agony. I haven't talked to family and friends because I don't want them to know what is going on and influence/or even know about our decision if we end up terminating. Also everyone wants to talk about the pregnancy and baby showers and I just can't deal with it right now. I am so livid that this lab screw up is going to potentially delay our results. I can't think straight to work, I have work and personal travel I need to schedule and I can't do any of that without knowing the results. Dr.T, do you have any experience with FISH results being run late and them working or not working?
At Wed Jan 30, 07:26:00 AM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To waiting in Cinci: ARRGGH! I know how you must feel. At this point, it is probably just as well to await the final results. If by chance, they get the FISH to work, the results will still probably be valid, but the final result will be where the money is. At this point you need to focus on yourself and the baby. There is nothing you can do to change the result at this point but there is also no reason not to keep your chin up. You will not know what to do with the final result until you get one, so don't even try to second guess yourself at this point. In my experience, others will not be able to help you with any decisions that have to be made. You can tell interested parties at this point simply that you are "having trouble with the pregnancy,' if you need to say anything at all. We are all still pulling for you... Dr T
At Thu Jan 31, 02:30:00 PM 2008, Anonymous said…

Hi - I posted a few weeks ago with my high-risk NT results, then my FISH resulsts and now my amnio results. I'm 38. Had the NT measurement and bloods drawn at 12w 5d although I measured 13w 2d. My scan was 1.4, nasal bone seen, fbhcg 2.04, pappa-a 1.06. My odds were 1:155. My FISH results were good and I just got my full amnio results which were good. I wanted to share my results to helps others feel better about their results.
At Fri Feb 01, 05:08:00 PM 2008, Anonymous said…

I am 38 and just received news (through an ultra screen) that we have a 1:2381 chance that the baby will have DS and a 1:3200 chance of other chromosonal disorders. I am just over 12 weeks. I am told by friends and family that this is great news but can't seem to stop thinking about a CVS even though I know the test carries the risk of a miscarriage. My husband and I had decided that if we found that something was wrong in the first trimester(DS or other) we would terminate. I know that a number of things can go wrong from now until birth and I feel like I am being a control freak wanting to know that everything is going to be 100% ok. Any advice on helping to calm my fears?
At Sat Feb 02, 02:12:00 AM 2008, Jaycee said…

Hi Doctor, Like everyone else after getting a high risk for Downs result from my NT I am searching for related topics and happened across this one. I must Doctor that you have given me perspective. I am 38 and my u/s was fine so they say - fold was thin and confirmed presence of formed nasal bone. Its the bloods that took me skew wiff with my age ratio. I am an IVF patient. Rather this cycle was an FET - frozen embryo transfer - I have heard that IVF pregnancies could have blood abnormalities? They say I have 1:28 but with the presence of the nasal bone it brings it up to 1:90 or so. Which means, I have a 1:89 chance of the baby not being downs. The doc there has recommended doing an amnio at 16 weeks. I already have a son, 3 yrs. Feels like Im going crazy to wait .... I want to nuture this child but in the same breath want to distance myself - self preservation. The geneticst said that my blood ratio was typical of downs by papp-a levels low and my fbhcg high but the u/s was normal .... its so confusing !!!
At Sat Feb 02, 05:12:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Anonymous Jan 31: Congratulations and thanks for sharing your story. There are many readers who will be reassured by what you experienced. Best of luck for the rest of the pregnancy and please let us know how things turn out! Dr T
At Sat Feb 02, 07:20:00 PM 2008, ovelies said…

Hi Dr. T,

I am a 28 year old who had combined first trimester screening at 12 wks. My NT was 1.6 with present nasal bone. I do not know my lab values. Doctor called on Friday and said my test came back abnormal with my chance of having trisomy 21 being 1:150, however chances of having trisomy 18 was within normal ranges. I became pregnant via IVF ICSI (male factor) - two embryos transfered, and singleton pregnancy. Also, I had a rather large subchorionic hematoma that bleed from weeks 6 to 12. I am curious to know your opinion on lab values and false positives due to the IVF ICSI (I've read conflicting research regarding abnormal results and use of fertility drugs), or if the hematoma could cause a false positive. I've been going crazy over these results and am hoping you can offer an insight.

Thanks,
NV
At Sat Feb 02, 07:29:00 PM 2008, Anonymous said…

Hi Dr. T,

I am a 28 year old who just recieved abnormal results for first trimester screening that I had taken at 12 weeks. The ultrasound was normal with NT at 1.6 and present nasal bone. I do not know the blood test values. Doctor told me I have a 1:150 chance of trisomy 21, and no increased chance of trisomy 18. He recommended seeing genetics counselor and amnio at 16 weeks. I became pregnant via IVF ICSI (male factor) - two embryos transferred and singleton pregnancy. I had a rather large subchorionic hematoma that bleed from week 6 - 12. I have read conflicting research on fertility drugs and false positives for this screen, and have heard other women in chat rooms say that hematomas can cause false results, although I haven't found any research to back this up. I am hoping you can provide your opinion on whether you think either of these conditions can skew results. I've been going crazy over my results and don't know how I am going to be able to wait until week 16 to get the amnio. Please help.

Thanks,
NV
At Mon Feb 04, 10:37:00 AM 2008, Anonymous said…

I found this site as I am anxiously awaiting my CVS results. I had a "postive" screening...... I am 37 and my results were as follows .....hCG(MOM): 1.16, PAPP-A MON: .069 and NT: 2.9. My risk for Trisomy 21 is 1 in 24. Those are pretty scary odds. I had the CVS performed on Thursday the 31st and the prelim results
( FISH) are due today. I have never felt the way I feel right now. I can sit, stand, lay down in the same spot for more than 1 minute. It has helped me to see results similar to mine that turned out to be ok. Thank you and good luck to everyone.
At Tue Feb 05, 04:16:00 AM 2008, Anonymous said…

Hi, I've just had my results back. Had the blood test and nt scan at 12w 1d.. results are:

Maternal Age: 28
Gestational Age: 12w 1d
Crown to Rump: 69.7mm
NT 2.0mm
hCG 0.81 MOM
PAPP-A 1.81 MOM.

I got told I was high risk of 1:153 for DS.

I've been trying to read all the material I can find but cannot find anything with PAPP results higher and hCG lower.

How did they calculate this risk as everything i've read so far says if the hCG is high and the PAPP is lower than the risk is higher??
At Tue Feb 05, 11:03:00 AM 2008, waiting in cinci said…

Dr. T.– Waiting in Cinci here, just wanted to come back with an update. The FISH results DID work and came back negative. Today, we got back the full panel (which, thank God the FISH worked because I couldn't have taken another week and a half of waiting), and everything is all clear. We are expecting a healthy baby boy. Thanks for your help and reassurance.
At Wed Feb 06, 04:10:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To ovelies Feb 2: I am betting the "increased risk" is being driven by a low PAPP-A alone and would also bet that that is the result of the bleeding and, perhaps, less than optimal placentation early in this pregnancy. The odds are in your favor this baby is chromosomally normal. Invasive studies are riskier when there has been bleeding, so we would usually advise patients to shy away from a CVS and to think long and hard about even having an amniocentesis done. Although you have many options, and in the end you must make the final decision, but I often suggest under these circumstances that you simply have a MSAFP (or complete 'quad screen') done at 16 weeks and a targeted 'genetic ultrasound' at about 18 weeks. If the latter is normal, your risk for a baby with trismy 21 is less than that of a 35 year old woman using your first trimester screen as the a priori basis for that determination. Good luck and let us know what you do and what you find out! Dr T
At Wed Feb 06, 04:19:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Anonymous Feb 4: You are correct. These results are very scary at age 37, particularly with the increased NT measurement and the very low PAPP-A. We are pulling for you...please let us know. Best wishes. Dr T
At Wed Feb 06, 04:24:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Anonymous Feb 5: You might ask the lab to RECALCULATE the risk if the results you have provided are accurate. The elevated PAPP-A and the lower hCG, along with your young age at that NT measurement, do not add up in my head. Your doctor might want to verify that the lab got the correct gestational age of the pregnancy. Better yet, have a genetic counselor look into it for you. They are usually on a first name basis with the people in the laboratory! Good luck to you and let me know what you find out. Dr T
At Wed Feb 06, 04:25:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To waiting in cinci Feb 5: Congratulations my friend. Best of luck for the rest of the pregnancy! Dr T
At Wed Feb 06, 04:38:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Anonymous Feb 1: Most 38 year old women would kill for those great results. A CVS carries a 20-30 times greater risk that you will lose the baby as the result of the procedure and if you do, the overwhelming odds are that the baby would be completely normal. You have to make the final choice yourself, but I usually don't even recommend an amniocentesis with those odds! A normal ultrasound at 18-20 weeks will reducs your a priori risk (based on that wonderful first trimester screen) by at least another 50%. Babies can still be abnormal for reasons other than chromosomal abnormalities, but there is no good way to screen for those at this point unless we knew what we were looking for. Nothing is 100%, but there comes a time when we have to go with what we got! So, RELAX. Your worrying has a greater risk of negative impact on the pregnancy than the odds of having an abnormal baby from a chromosomal or genetic standpoint at this time! Best of luck to you. Dr T
At Wed Feb 06, 04:54:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Jaycee Feb 2: Not all babies with Down syndrome or other chromosomal abnormalities will have an abnormal ultrasound in first trimester. Your feelings of ambivalence toward the baby are very typical and understandable under these circumstances, so don't kick yourself. Hopefully, the abnormal maternal serum 'markers' are simply the result of the fact that this is an ART pregnancy, but even thenm as you point out, the odds are still in your favor... I think I would suggest the amniocentesis at about 16 under these circumstances and perhaps even having the rapid screen (FISH) done to look for Down syndrome and other more common chromosomal abnormalities. We wish you luck and please let us know what you do and find out. Best regards, Dr T.
At Thu Feb 07, 05:12:00 PM 2008, Anonymous said…

Hi Dr T,
I am happy to report that my CVS test came back negative for trisomy 13, 18 and 21 (and it's a boy!)My odds were bad, 1 in 24 chance, so this result is amazing. It was only the preliminary result and the final results are due in another week. My original post was "Anonymous Feb 4th". I feel the most tremedous relief. Good luck to everyone out there with their pregnancy. I am sending positve thoughts to all.
Sincerely, Michele
At Sat Feb 09, 07:33:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Michele Feb 7: Congratulations and thanks for sharing. There will be many readers who will be comforted by your experience. Best wishes for the rest of the pregnancy! Dr T
At Sun Feb 10, 11:49:00 AM 2008, Sheila said…

Hello, Dr. T....

I am 37 years old - pregnant with my third child. I just recieved the results of my first trimester screening. I was very pleased with the results (1 in 893 for DS; and 1 in 52,900 for trisomy)...but then I spoke with someone else - same age - who just had a baby. She said her results for DS was 1 in like 2000.

I saw several references to weight when reading your responses. Can you tell me - how does my weight affect the results of this screening? I am overweight - prepregnancy weight of 195. Has this increased our chances of something being wrong with our baby?

I am very concerned about this - because I honestly did give it much thought prior to getting pregnant. Please let me know your thoughts...

Thank you!
At Sun Feb 10, 07:13:00 PM 2008, Anonymous said…

Dr. T.,

Thanks for your reply to my question regarding early hematoma and its impact on first trimester screening(Ovelies - on Feb 2nd). Your guess that my Papp was low and everything normal seems to be correct. My lab values are as follows:

gest age at collection date: 13.0
crown rump length: 69.5
nt: 1.8 (MoM = 1.03)
hcg: 91.1 (MoM = 1.36)
PAPP-A: 0.91 (MoM = 0.27)
dia: 376.6 (Mom = 1.71)

Nasal bone was present, but not factored into the screen.

My papp-A seems really low - do you still think this could be becuase of the earlier hematoma (I stopped bleeding a few days before the test was taken). Also, the hematoma is NOT near the placenta, rather on the opposite side of my uterus.

My doctor wants to perform an amnio this Wednesday, with me being 14 wks. 5 days pregnant. He seems confident that he will be successful, but I am worried about it being this early on top of the added risk due to my hematoma. However, if the fetus does have an abnormality, I don't want to wait until the 16 or 18th week to find out.

Thanks so much,
NV
At Mon Feb 11, 04:49:00 PM 2008, Crista in VT said…

Dear Dr. Trofatter,
I am 35 and got pregnant through IVF. My results were as follows:
13w0d
CRL: 69.2 mm
NT: 3.1 mm
Free Beta MOM: 2.01
Pappa-A MOM: .61

We were given a 1 in 5 chance of having a baby w/Downs. Are worse odds given? (i.e. 1 in 3?). What is the average range for the NT measurement?

After much thought, we have decided to do amnio- even though we are totally terrified (it took us 4 years to get here!). Are there other chromosomal abnormalities we should be concerned about? Do most Downs babies make it to birth?

Thank you for your help~ Crista
At Thu Feb 14, 08:56:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To NV Feb 10: Hope things went well with the amnio. I actually just got your comment so couldn't respond sooner. Bleeding increases your risk for complications from an amnio, so I will frequently hold off doing them til a little later under those circumstances. I do wish you luck! Please let us know what your find out. Dr T
At Thu Feb 14, 09:02:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Sheila Feb 10: Weight is one of the factors that is considered when your risk assessment is calculated. You have a Great result, so don't panic! Let us know how things turn out. Dr T
At Mon Feb 18, 01:19:00 PM 2008, Gail said…

I have read many of your questions/comments. I am interested in an analysis of my Sequential Screen results. I have read through much research that using the average of the NT measurements is much more accurate than using only the largest value? Any thoughts on that? We had many measurements that ranged from 2.3-2.7 with ONE outlier at 3.2. 3.2 was used in my sequential screening. Here are my other results: CRL: 62.5mm, Gest Age: 12.4 weeks, Age at term 37.9, Results: Nuchal Translucency 2.00 MoM, PAPP-A 0.45 MoM, hCG 1.36 MoM. The interpretation has a 1:5 risk for Down Syndrome and 1:59 for Trisomy 18. Of course amnio was recommended to confirm. I really want the information as I will stress for the next 6 months but I do NOT want to put my baby at any risk. So I am leaning toward the "targeted sonograms" you have mentioned. Any comments specific to my results? Thank you for your time and consideration. Gail
At Mon Feb 18, 03:40:00 PM 2008, Kate said…

To Dr. T
I have been reading everyone's comments and leared a lot. I have also abnormal quadruple screen 1:27for downs. I am 32 years old. I had two US after that and both were normal. I was just diagonsed with a Dermoid tumor in my ovary in this pregancy. From my quadruple screen the inhibin was off the highest was 2.24MOM, everything was close to 1 MOM. I wanted to see if you know of a case with dermoid causing abnormal quadruple screen. Is there any thing associated with high inhibin during pregnancy. Thanks!
At Fri Feb 22, 02:02:00 AM 2008, Anonymous said…

Dr t, thankyou so much for taking the time answer the questions of worried pregnant women!
I have recently had a nuchal scan and blood tests.My results were: 1:793 for down's syndrome, but high risk for trisomy 13/18 1:179.

I just don't understand the blood test results.Perhaps you could explain them to me, and tell me if that is why my risk is considered high.
They were : freeB-hCG 11.64, 0.441 MoM and PAPP-A 1.39, 0.335 MoM.
I don't know what is considered normal, so don't know how to interpret the results.
I am having another ultrasound at 17 weeks, and possibly amniosentesis if they think it still necessary. I am 41.
I hope you can help me understand.Thankyou so much.
Angela
At Fri Feb 22, 06:41:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Crista in VT Feb 11: Unfortunately, the 'normal' range is not defined. Our cocern goes up dramatically with any NT > 2.5 and at 3.5 or greater, we usually recommend invasive diagnostic testing based on the NT measurement alone. In your case the high risk is being driven not only by the NT, but by the high hCG and the relatively low PAPP-A. The amniocentesis will tell you if the baby has Down syndrome or any other chromosomal abnormality. More than 2/3 Down syndrome babies that get well into the midtrimester will survive the pregnancy. Survival depends on associated anomalies (particularly cardiac and gastrointestinal), metabolic disturbances that can occur in some babies and are poorly understood, and gestational age at delivery. We wish you the best of luck. Please let us know the results of the amniocentesis if you care to share that with us. By the way, in these circumstances, I would also recommend that you have the rapid (72 hr) chromosomal assessment for common abnormalities (FISH) in addition to the routine fetal karyotype. We will be pulling for you, Crista. Dr T
At Sat Feb 23, 06:02:00 AM 2008, Anonymous said…

Dear Dr T,

I would let you know how things turned out. Now, here I am: on 31 january our beautiful daughter was born. We are very proud and happy everything went well. So, for everyone who is concerned about their first-trimester results: here a positive outcome. We had a 1:5 chance.
Thans for your support.
T
At Mon Feb 25, 09:57:00 AM 2008, Anonymous said…

Dr. T,

I was curious about your thoughts on nasal bone measurements.
I am 38 and our first trimester screen came back positive 1:277.
PAPP-A was .59
HCG was 1.33
NT 1.2
We had what was called a "Modified Sequential" test done at 15 weeks. This came back as positive, 1:61 (I did not ask what the levels were this time). We opted to wait for the 20 week ultrasound to look for any markers before deciding on an amnio. The only thing remarkable was a small nasal bone. We were told 7 was normal and his was at 3. We are still not sure about the amnio due to the risks. Do babies born with out Down Syndrome have such small nasal bones? Since this was the only thing found on the ultrasound do you think this increases the chance for DS significantly? Thanks, Amnio Ambivalence
At Tue Feb 26, 08:20:00 AM 2008, Anonymous said…

I am glad that I found this forum. i am 35, 17 wks pregnant and found out late last week from my blood tests that i have a 1:259 risk of ds (as opposed to my 1:289 age based risk). I am scheduled for an ultrasound next week. At this point my dr. said that he would not recommend an anmio. I am trying not to worry, but I think about it constantly, and can relate to the other readers who have said that they are having trouble now being excited about being pregnant and don't know how to respond to congratulations from others. I assume that my dr. knows the specifics of the blood work and that he will use those when he ultimately determines the risk after the ultrasound. Should I find out the specific values, and would those help me to better evaluate my own personal concerns?
At Wed Feb 27, 12:51:00 PM 2008, Anonymous said…

My quad results came back as follows (my age is 30):

1:690 for down syndrome
AFP .77
HCG 1.96
Estriol .96
Inhib. A

I am worried that my hcg is way too high and afp too low. Can anyone help me with these reults?
Thanks!
At Wed Feb 27, 04:50:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Anonymous Feb 23: Congratulations and thank you for letting me and our readers know. I am sure many will be reassured by your story and I am SO glad things turned out just fine. Dr T
At Wed Feb 27, 05:05:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Anonymous Feb 25: Personally, I wish you'd stopped testing with serum markers after the first results or had true 'integrated' screening! Now both you and your doctors have to deal with two VERY different a priori risk results (although there is a possibility the lab can reinterpret the results as an 'integrated screen'). Small, and particularly absent, nasal bones increase your risk for aneuploidy. But I would much rather counsel on the "absence" rather than the "size" although if your provider is 'nasal bone certified', the results can be plugged into the risk assessment by the big computer in the laboratory! The final choice is ultimately yours. If at your next ultrasound the baby is small, or has any major abnormalities (particularly of the heart) or there is a significant 'soft marker' for aneuploidy (e.g., short long bones or a thickened nuchal skin-fold), you will need to consider an amnio more seriously. If all is reassuring at that point, your risk is reduced at least 60-80% (but again, you will need to pick which 'risk' result you use). In experienced hands, the risk of the amnio is somewhere between 1 in 500 and in 1600. Your decision if the baby appears 'normal' will depend on how badly you need to know. Best of luck and let us know what you decide! Dr T
At Wed Feb 27, 05:09:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Anonymous Feb 26: When it comes right down to it, there is no significant difference between the 'age-related' and the test result for risk. I agree with your doctor. Unless there is a fetal abnormality, poor fetal growth, or a significant 'soft marker' for aneuploidy at the time of your next ultrasound, I would not recommend the amnio. But, the final choice is yours alone and that is a balance of the 'risk' and your need to know (and of course, the risk of the amniocentesis which depends on the skill and the experience of your doctor). Good luck and let us know what you decide to do! Dr T
At Thu Feb 28, 05:50:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Angela Feb 22: Your risk is being driven by three factors, your age and the fact that BOTH the hCG and the PAPP-A levels are low. This combination does increase your risk for trisomy 18 in particular, even if the NT measurement was normal. Under the circumstances, an amniocentesis at about 16 weeks is probably prudent. You might consider having the rapid (FISH) test done because you can ususally get the results back on that in 72 hours. I wish you the best of luck and please let us know the resuults. Dr T
At Thu Feb 28, 07:19:00 PM 2008, Anonymous said…

Can someone please give me advice on the results of my quad screen? I am been very worried.
age-30
risk for Down Syndrome- negative 1:690 (which is slightly less than my age related risk)
Hcg- 1.96
afp- .77
estriol-.96
Inhibin A- 1.24
Are these numbers way off from the "norm"?
Any adivce is so appreciated!
At Thu Feb 28, 09:10:00 PM 2008, Anonymous said…

Hi,
I am 36 yrs old (and will be 36.6 at term.) and I am expecting twins. I had my NT scan last week and the result came as "negative" with 1:315 and Age alone 1:164. The report says that the risk is calculated for the pregnancy as a whole so I do not have the fetus specific values. My papp-a was 1.56MoM and my hCG was 2.93. Fetus A's NT was 0.8mm and Fetus B's NT was 1.2mm. I am worried that the 'good'results of one baby may mask the other. I am thinking about amnio however my husband is aganist it because of risk for miscarriage. Can you pls. advise 1) What increases my risk? or what is contributing to a relatively high risk?
2) How much NT scan is good for twin pregnancies.
Thank you!
At Fri Feb 29, 02:04:00 PM 2008, Anonymous said…

Hello everyone, this is NV (posted on Feb. 2nd and 10th). I just wanted to share with everyone that our amnio results came back NORMAL and we are expecting a baby girl! The last few weeks were the most stressful, but in the end we got good news. I just wanted to give hope out there to other people that have been burdened with abnormal first trimester results. My papp-A was so low (.29), I was sure something was going to be wrong so you can imagine the weight that has been lifted off our shoulders. Good luck to everyone and thank you Dr. T for your responses and advice!

NV
At Fri Feb 29, 04:28:00 PM 2008, Ruth said…

I am 30 years old, living in South Korea, and 7 weeks pregnant. Yesterday, I had a sonogram that said my gestational sac measured 2.79 cm (putting the gestational age at 8 weeks 2 days). The crown-rump lenght measured at .85 cm (so that gestational age is 6 weeks 5 days). Is the discrepancy between the two measurements something that I should worry about?

The doctor mentioned that there was a discrepancy, but she didn't say anything about it. Then, she sent three nurses to talk to us about screenings for downs syndrome and other chromosonal abnormalities. We are scheduled to have those tests in a month, but I think that it will be a long month. Thank you for the help.
At Fri Feb 29, 07:32:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Kate Feb 18: Sorry, I got bombarded and missed your comments until now. Although inhibin is made by multiple tissues in the genital tract, there is not a lot of literature on elevated levels associated with ovarian tumors. I did stumble on one article, however, that described high levels of inhibin in an ovarian teratoma (like a dermoid) in an older woman (Itoh, et al., Pathol Int 2004;54:279-83). More often, high inhibin levels have been associated with hypertensive disorders (preeclampsia) during pregnancy. There is some suggestion that some patients have these elevated levels as early in midtrimester as the maternal serum screening is done (16-20 weeks). I hope that's all this is and not an indication tha your baby has a chromosomal abnormality. I always learn from extraordinary questions like yours, so PLEASE let me know how things turn out. Thank you so much for writing. Dr T
At Tue Mar 04, 06:56:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Anonymous Feb 28. Those numbers look pretty good to me! Relax, enjoy your pregnancy, and let us know how things turn out. Dr T
At Tue Mar 04, 07:04:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Anonymous Feb 28: You are NOT at increased risk. You are at half your age alone risk with NT measurements and serum markers that are very normal for a twin pregnancy. The final choice is yours, but under these circumstances, we would not ordinarily recommend an invasive diagnostic study unless a fetal abnormality is detected at the time of a 'targeted' ultrasound at 18-20 weeks. By the way, could your doctors tell if you have monochorionic or dichorionic twins at this point? Ask them to explain what that is if you don't know. Thanks for writing. Good luck, relax, and let us know what you do and how things turn out.
Dr T
At Tue Mar 04, 07:06:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To NV Feb 29: Congratulations NV and thanks for letting us know! There are many readers in your same situation who will appreciate your feedback. Let us know how the pregnancy turns out. Dr T
At Tue Mar 04, 07:09:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Ruth Feb 29: At this point, the size of the baby is consistent with your period. If a heart beat was detected, just try to relax over the next month. It is easy to distort gestational sac measurements. Regardless, please let us know how things turn out. Thanks for reading. Dr T
At Mon Mar 10, 03:36:00 PM 2008, Anonymous said…

Dr. T

I just wanted to let you know the sad ending to my pregnancy and an end to my amnio dilemma. Our baby boy was stillborn at 23 weeks with a nuchal cord 5 times. We did have an autopsy done to give us any answers as to why this happened or if there was anything wrong with him. I am devastated and searching for answers. By the way, I believe the "modified sequential" test I had done was an integrated test that took all the information into account giving us the second risk level of 1:61. None of it matters anymore, I wanted him regardless of any birth defects. Thank you for your input on my concerns about the nasal bone measurements and the blood results. If you have any insight as to why this could happen please let me know. The autopsy results will not be in for 2 months and we still might not have an answer at all.
Thanks, Amnio Ambivalence Anonymous, Feb. 25
At Wed Mar 12, 10:55:00 PM 2008, Anonymous said…

Dr T, Thank you so much for providing this information and forum. I just received my first trimester screening results and was told that my risk of trisomy 13/18 is greater than 1 in 5. I'm shocked as everything up until now has gone so smoothly. I've spent the day looking on the internet for information and this is by far the most helpful resource.

I don't know all of my numbers like other posters, but I do know that my NT was 1.2mm and the genetic couselor told me that the problem was with the PAPP-A reading. My DS risk is only 1:3000. I'm 36 (first pregnancy), and so sad and scared. CVS scheduled for tomorrow. Best wishes to everyone out there.
At Fri Mar 14, 02:00:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To amnio ambivalence Mar 10: I am so sorry for your loss. The fact that you did lose the baby in midtrimester increases the likelihood the baby had a chromosomal problem - if not Down syndrome then perhaps something else. The nuchal cord x 5 probably did NOT caise the death of the baby, but occurred follwoing the demise or during the process of the same. Again, I am so sorry and please let me know what you find out. Dr T
At Fri Mar 14, 02:04:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Anonymous Mar 12: That is a VERY high risk for trisomy 18. With the normal NT measurement, both the PAPP-A and the hCG results must have been very low. If the baby does not have a chromosomal abnormality, you may still be at increased risk for complications related to 'placental insufficiency' later in the pregnancy. Let us know what you find out and best of luck to you with the CVS! Dr T
At Sat Mar 15, 04:27:00 PM 2008, Anonymous said…

Dr T
I just wanted to let you know the results of my ultrasound.I wrote to you on Feb 22.My blood results were low and I had a 1:179 chance of trisomy 13 /18.

I am very happy to say that the ultrasound (performed by a professor in maternal fetal medicine)revealed that there are no markers for trisomy 13/18.I was offered an amnio but declined as the advice from the doctor was that there was a higher risk associated with that than there was for the trisomy.
I am relieved and overjoyed.She said the low blood results might mean a problem with high blood pressure or bleeding later in pregnancy, or nothing at all.What is your experience of the low blood results? Should I be concerned, and is there anything I can do to ensure a good outcome and reduce risks?
This forum is invaluable and proved to be a source of comfort in the gruelling 4 week wait til my ultrasound.Thankyou.
Angela
At Fri Mar 21, 06:55:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Angela: Great and thanks for getting back with us. Best wishes for the rest of the pregnancy and don't forget about us after you have had the baby! Let us know how things turn out. Dr T
At Tue Mar 25, 06:03:00 PM 2008, Anonymous said…

Hello. Yesterday I found out that I am at an increased risk for Down Syndrome. My odds are 1 in 264. I will be 34 when the baby is born. The ultasound measurements were fine so it is my bloodwork that came back abnormal. When I took the blood test, it was the finger prick test where you fill in five circles with one drop of blood. The technician taking my blood had trouble extracting the blood from my finger. She ended up pricking a second finger to finish the test. My concern is that she went back to one of the circles and put in a second drop of blood to fill in the circle. Could this extra drop of blood throw off the results?

Thanks for your help.
At Wed Mar 26, 06:17:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To anonymous mar 25: I doubt the way the blood was drwan had any significant effect on the test results. Actually, the result you got is probably just about equivalent to your 'age alone' risk for Down syndrome in first trimester. That's not such a bad result. Let us know how things turn out. Dr T
At Thu Mar 27, 06:37:00 AM 2008, Anonymous said…

Hello Dr. Trofatter,
I am 38 y/o and had a first trimester screen at 12 weeks. The results showed a risk 1/982 for Downs and 1/4261 for Trisomy 13 or 18. I am confused because I had Quad Screen done at week 15 for a 1/252 risk for Downs then repeated at week 16 for 1/185. Why is there such a discrepency between the First Trimester Screen and the Quad Screen? Isn't it true that a First Trimester Screen is more accurate. My physician said I probably shouldn't have had the Quad screen since the First Trimester Screen was good. Should I be concerned?
Thank you in advance for your help.
Julie
At Thu Mar 27, 06:49:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Jukie Mar 27: Your doctor is correct, you "probably shouldn't have done" the full quad screen unless you were having it done as part of an 'integrated screen' with your first trimester test. Your actual 'risk' probably lies somewhere in between (and is probably fairly low), but all I would suggest doing is having a genetic sonogram done at 18-20 weeks. Good luck with things and let us know how everything turns out! Dr T
At Tue Apr 01, 04:21:00 PM 2008, Anonymous said…

Hi Dr T. Thank you for your time on this blog, I am sure you are putting the minds of many new parents-to-be at ease. I'm 30yrs old, and found out yesterday after the Nuchal Scan that I have a 1:28 chance of a problem - but working it out, that is less than a 4% chance that anything will be wrong. If someone had told me at the start (before I new the stats) that everyone had a 4% chance of having a baby with Downs, I would not have been that shocked - it just doesn't seem that risky to me.
At Thu Apr 03, 10:24:00 AM 2008, Anonymous said…

Hello Dr. Trofatter,

I am 37 years old and just had my 16 week screening with my perinatel specialist who we originally went to at week 12 as there was concern about my baby's skull development. The skull development looks fine, however our specialist was concerned about 2 markers for DS. The first was that she only saw 2 bones in the pinky (instead of the 3) and the bones in the leg were just a bit short. Now, as she stated the baby could have been clenching its pinky thus only showing 2 bones instead of 3. However, I've had all of my bloodwork complete with no signs of DS - the 12 week ultrasound showed nasal bone, the heart looks to be the right size, and the neck measurements were fine. Before the ultrasound yesterday, I had a 1:2880 chance for DS and my odds are now 1:500. We did decide to do the amnio and will have our FISH results this Friday. With all of this said, how many markers are there for DS and with the 2 markers our specialist was concerned about, are these the strongest markers to measure DS?
At Thu Apr 03, 01:11:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Anonymous Apr 1: Thanks for writing. Please let us know what you decide to do egarding further evaluation and what you find out. Best wishes to you! Dr T
At Thu Apr 03, 01:20:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Anonymous Apr 3: There are many "soft markers" for Down syndrome. The ones that have the greatest risk association are a thickened nuchal skin-fold and the hypoplastic or absent nasal bone. Other markers of varying degrees of significance (some varying by ethnicity and others by mother's habitus) include the hypoplastic middle phalynx of the fifth digit of the hand, wide hip angles, echogenic intracardiac foci, echogenic bowel, renal pyelectasis, short long bones and a few others. Harder markers include major heart abnormalities (such as endocardial cushion defects) and bowel abnormalities (such as duodenal atresia). At this point, it appears that your baby only has a couple of the "soft markers" and with your previous risk assessment there is still a very small chance that he/she has Down syndrome. Thanks for writing and let us know what you find out and BEST OF LUCK to you for the rest of the pregnancy! Dr T
At Fri Apr 04, 01:59:00 PM 2008, Margaret Stasiak said…

Hi I'm 29 and received a screen positive for increased risk of DS on my quad test. My numbers were AFP 1.15 MOM , uE3 1.01, hCG 2.26, DIA 2.65. My odds were 1:334. I haven't slept in days. I'm scheduled for an amnio in 3 days. My doctor has not counscelled me on what these numbers mean, but from I understand, really only my hCG and DIA levels are high. I realize that they use all the numbers combined along with other factors to calculate a risk. What else could be making the hCG and DIA high? Could it just be a fluke? I'm worried about losing this baby due to my stress about the whole situation!
At Fri Apr 04, 05:13:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Margaret: Those results can also be interpreted that you have a 333 out of 334 chance (99.7%) that your baby does NOT have Down syndrome. Most labs do not consider that to be screen positive. The final choice regarding an invasive diagnostic study is yours, but my suggestion would be that you simply have a genetic sonogram at 18-20 weeks by a specialist in high risk obstetrics. If that is completely unremarkable, your risk is less than 1 in 700! I think you are correct in one respect, your current level of stress is probably more of a concern than it is likely that you have a baby with Down syndrome. BREATHE, RELAX, and let us know what you find out. Dr T
At Sat Apr 05, 03:33:00 PM 2008, Anonymous said…

Dr. please help. I am out of my mind with worry and stress. My NT at 11weeks 4 days was 1.4 and the nasal bone was present. My quad screen showed 1/690 dor downs and my targeted ultrasound with specialists showed absolutely nothing to worry about. I am 41 years old at delivery. I am 19 weeks and need to make a decision about the amnio immediately. Do you think i should do the amnio with those test results. I am vry scared and do not want to lose this baby. I did have some first trimeser spotting.
At Sat Apr 05, 07:41:00 PM 2008, Margaret Stasiak said…

Does it make any difference that it was a QUAD screen versus a triple screen? Why else might my DIA and HcG be so high?
At Sun Apr 06, 09:44:00 AM 2008, Anonymous said…

I had my Quad screen done at 15 weeks and 4 days would the results be accurate? I heard it should be done at 16 weeks.
At Sun Apr 06, 09:47:00 AM 2008, Anonymous said…

would you recommend an amnio at 19 nweeks 4 days, 41 years old, quad screen 1/690 for downs, 1.4 nuchal fold at 11 weeks 4 days with a nasal bone and a targeted ultrasound that showed no markers nothing. I am so scared to miscarry with amnio and so scared to have a downs baby. Please help me.
At Mon Apr 07, 10:52:00 AM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To anonymous Apr 6: I cannot make the final decision for you, but, personally, I would NOT recommend the amnio. The risk of a Down syndrome baby you have been quoted is 10 times less than your age alone risk! The risk of an amniocentesis is often quoted to be 2-3 times that risk as well. The overwhelming odds are that your baby does NOT have Down syndrome and the risks of the procedure balanced against the chance of Down syndrome is not favorable. Let us know what happens and thanks for reading. Dr T
At Mon Apr 07, 11:49:00 AM 2008, shariten said…

I am 43 and I have a 27 and 14 year old. I remarried and this will be my husband's first baby. I had a quad screen done on March 27th, right before leaving town to take my daughter to tour colleges and universities. The doctor's office called me on March 31 to say that my results came out with high risk for DS. I was in a panic since I was far away but I had already had an appointment for this coming Friday for an ultrasound. The doctor's office added an amnio to the appointment. Today, our first day back home, my husband and I went to have our consult with my obgyn and he said my results were 1:155 for DS. He did not give me any other numbers. I see lists of MoM and HGC numbers from other mom's on this post but I didn't get anything like that? Should I ask my doctor for them? I don't think that I would even understand them if he gave them to me. He did say that my age risk would have been 1:50 so my risk decreased with my quad. I am scared but trying to remain positive. Should I request the individual numbers? Would this give me more insight into my results? Also, when I asked him if these test results were a compilation of the blood work and my maternal age etc... he said no. He said that the results were purely based on the blood work. Is this correct?
At Mon Apr 07, 01:27:00 PM 2008, Anonymous said…

Dr T
It is awesome that you have this column and respond to it so quickly. I find that I trust your advice and definitely appreciate it. I am so grateful and will let you know the outcome. I am anonymous April 6 and have been struggling for a while with this decision which seems much easier now...thanks.
At Mon Apr 07, 01:34:00 PM 2008, Anonymous said…

I have one more question for a 41 year old my quad screen was 1/690 but the AFP was 0.92, Estriol was 1.02, HCG was 0.93 and Inhibin was 0.84 Would the low AFP level be an indicator of downs by itself or is it only the combined result that matters. Thanks this has been such a struggle for me because I am equally afraid of a downs baby as I am of losing a healthy baby. I so appreciate your time.
At Mon Apr 07, 06:00:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Shariten Apr 7: The quad screen I am presuming that is what you had done around 16 weeks based on your comment) measures AFP, hCG estriol, and Inhibin-A. The results are combined with the mother's age and ethnicity to provide an overall 'risk assessment' for Down syndrome (trisomy 21) and trisomy 18.
It is important to remember that the quad screen is a screening test and not a diagnostic test but it DOES provide a more reliable estimate of risk than counseling you based on your age alone. Screening tests are designed to minimize the risks of missing abnormalities, but they do carry high false positives rate. So, you have a risk of 1 in 155 (which is about one-fourth your risk for having a baby with Down syndrome based on your age alone) but that also means you have a 154 out of 155 (99.4%) chance that the baby does NOT have Down syndromego on to deliver healthy babies.

One of the options to consider (because of your relatively 'advanced maternal age', the significance of this pregnancy, and the high likelihood that the baby is chromosomally normal) is to simply have a good genetic sonogram done by a specialist at 18 to 20 weeks. If that is 'normal' your a priori risk (based on the quad screen) can be reduced by as much as 60-80% placing you more in the range of 1 in 400! If the 'genetic sonogram came back with findings that increased your risk, you could still opt for an amniocentesis at that time. You do NOT have to have an amnio simply because your doctor scheduled you for one - it is entirely YOUR decision (because you have to live with that decision)! Best of luck to you and let us know what you do and find out. Thanks for reading!
Dr T
At Mon Apr 07, 06:01:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To anonymous Apr 7 01:27 PM: Thank you for the kind words and for reading! Dr T
At Mon Apr 07, 06:04:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To anonymous Apr 7 01:34 PM: All your results are VERY reassuring (and specifically, the AFP is NOT low)! Most 41 year old women would kill for results such as yours! Good luck and try to get some rest. Dr T
At Mon Apr 07, 07:18:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Margaret Apr 5: The elevated DIA reduces the false positive results of the test, but you still have a very reassuring result if you look at the composite results. Dr T
At Mon Apr 07, 07:22:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To anonymous Apr 6 09:44: Most laboratories can provide accurate results at 15 4/7 weeks and some as early as 15 weeks. Dr T
At Wed Apr 09, 04:08:00 AM 2008, Anonymous said…

Dr. T,
I am comfortable with my Quad screen score (1/690 at 41 years old) except however I did not sleep last night because I am worried now that maybe it is less accurate because it was taken at 15 weeks and 4 days instead of the usual 16 weeks. I am afraid that my worrying self combined with the hormones of pregnancy will worry me into an amnio I just do not need. Do you think the quad screen should be repeated now at 19 weeks or should I feel cofident in the first ones knowing that I fear ds as much as miscarriage. Thanks again for being there to help because for me this is the biggest decision of my life. Lisa
At Wed Apr 09, 09:14:00 AM 2008, Anonymous said…

Dr. T....Would having the quad screen done at 15 1/2 weeks be less accurate then having it done at 16 weeks? Also I know my dates for sure so I was exactly 15 1/2 weeks however the baby measured 16 1/2 weeks on ulrasound. Does any of this effect the accuracy of the quad screen test? Would you recommend having the quad screen done again at 19 1/2 weeks?Or would my results be accurate as they are?
At Wed Apr 09, 09:47:00 AM 2008, Anonymous said…

i apologize for the duplicate messgae...i didn't think the first one went through
At Wed Apr 09, 09:53:00 AM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Anonymous Apr 9: Do NOT repeat the "quad screen"! It is more reliable at 15 4/7 weeks than at 19 weeks. Do have the ultrasound done and make your decision regarding the amniocentesis based on those findings and your own "need to know." Again, good luck! Dr T
At Wed Apr 09, 10:34:00 AM 2008, Anonymous said…

Dr T
Thanks again. I will not repeat the quad screen test and actually I had an ultrasound already at 18 weeks and 4 days. It was done at the perinatal center and they found no markers nothing at all everything looked great. I had an amnio scheduled for tomorrow simply based on my age which is 41 but I cancelled it. I just am not able to go in there and risk no matter how small that risk is a baby that has no signs of anything wrong. As I previously told you I had the nuchal test at 11 weeks and 4 days and the measurement was 1.4 and the nasal bone was present. I also had the quad screen at 15 weeks and 4 days with a 1/690 chance of down syndrome. (My AFP was .92 Estriol was 1.02, HCG was .93 and Inhibin A was .84)my weight was 130lbs. at the time and at 41 years old I guess that's all I can do that is not invasive. I have definitely decided to not do the amnio and I am hoping that I can make it through the next 20 weeks without the absolute knowledge. This decision has been such a struggle for me and I think becaue I lost a baby last April and the spotting I had with this pregnancy between weeks 5 and 6 I have feared the loss of this baby. I know if there was one marker or blood test that indicted the slightest problem I would have done the amnio and perhaps that would have been easier as my decision would have been made for me. In my case though I had to make the decision because my screenings were all great. I would have preferred a 1/6000 risk of downs but I will count my blessings so far and hope that my baby boy will be born in August healthy as he has indicated so far. Thank you so much for this service you offer. It has given me a place to go when I felt I didn't have one. Any further advice you could offer would be appreciated. If anything looks troublesome with any of my numbers or the timing of anything please let me know and maybe just maybe I could get an amnio in just under 20 weeks. Lisa
At Wed Apr 09, 04:07:00 PM 2008, Anonymous said…

does light spotting for two days between weeks 5 and 6 indicate a chromosome problem?
At Thu Apr 10, 03:31:00 AM 2008, senlik said…

Dr T, Thankyou for your previous reply. Due to my increased PAPP-A level [2.76 mom], the doctor has a concern about Down's Syndrome and suggests further tests, but as far as I understand a low PAPP-A level can be an indicator of Down's? My HCGb result and NT result were normal and my Downs risk came back at 1:13000 In your experience, is a raised PAPP-A level an indication of Down's syndrome and would you recommend amnio despite my Down's risk coming back ok?

Once again thanks.
At Thu Apr 10, 11:11:00 AM 2008, Anonymous said…

Dr. T, I was Anonymous on April 3rd and I'm happy to report that we received our FISH results from our amnio and our baby does not have Down's. I want to thank you for your prompt response and for having this site available.
At Thu Apr 10, 11:20:00 AM 2008, Anonymous said…

Dr.T
Also can first trimester spotting between weeks 5 and 6 increase the chance of miscarriage with an amnio? I see some people with a 1/3000 or 1/10000 for downs syndrome does that mean with a result of 1/700 you should undergo amniocentesis even though that is thought of as a negative result?
liz
At Thu Apr 10, 02:36:00 PM 2008, Confused in NY said…

Dear Dr T,
Thank you for being so available for information and support.
Contrary to my OB's advice, I had two first trimester screens done at different gestational ages and from different laboratories. The difference in risks are significant and I wonder how is that possible...
LAB ONE: Gestational age from CRL of 48.1mm at 11w3. DS 1:351, Trisomy 18 1: 4510
LAB TWO: Gestational age from CRL of 77.7mm at 13w4d. DS 1:3161, Trisomy 18 1: 6141
Thank you! Confused in NY
At Fri Apr 11, 06:02:00 AM 2008, Anonymous said…

Is an amnio more or less risky at 20 weeks?
At Sat Apr 12, 10:05:00 AM 2008, Anonymous said…

Dear Sir

I am 34 yrs and have just had a nuchal scan with 1:19 risk of DS and 1:999 for Trisomy 18+13. My hcg was 1.77 Mom and PAPP-A was 0.203 Mom. The nuchal fold was 2.0mm. I am scared to death and have been advised to have a CVS. If we had just had the ultrasound the risk would have been 1:1135 for DS and I wouldn't have been worried at all. How important is the blood marker in the assessment? Can the high HCG and low PAPP-A be explained by anything else?
Thank you, thank you, thank you
At Sat Apr 12, 04:14:00 PM 2008, Anonymous said…

Hi
I need some help! Thank You so much for having this website, I searched forever! I'm 37 and will will be just shy of 38 when the baby is due I'm 20wks.

My results came back
***SCREEN POSITIVEP*** They were>
AFP 0.72 MoM, uE3 1.77 MoM, hCG 0.69 MoM, NT 2.5mm, PAPP-A 0.99 MoM. I had an Amnio on April 8th and just waiting for the results, we did have a ultrasound and found no markers.
Thank You!!:)
Tracy
At Sat Apr 12, 04:15:00 PM 2008, Anonymous said…

It appears they used my due date on the genetic screen which my doctor has as september 3rd. I told him that was wrong but he kept it. It should be August 30 based on my LMP and my dates are correct. Would that affect the screening results? It seems like it would. I mean the numbers would be what they are but my ratio might be different...right?
At Mon Apr 14, 06:16:00 AM 2008, Anonymous said…

I will be 40 next month. I am 18 weeks pregnant with my 3rd child and I received a screen positive for Trisomy 18, 1:13 last Friday 4/4. I had an appt. scheduled for a level II ultrasound on Wed 4/9 and the nurse strongly urged me to have the amnio done. No markers showed up for trisomy on my ultrasound but because of the stress and agony I was already going through I opted for the amnio to clear my mind. I received my test results FSH on Friday 4/11 and everything came back normal. I never had these screenings with my other children and I definately feel that they do warrant alot of unnecessary scares and stress.
At Mon Apr 14, 01:47:00 PM 2008, Anonymous said…

Is the Quad screen just as accurate for women over 35 as it is for women under 35?
At Tue Apr 15, 02:48:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To anonymous Apr 9: The spotting could simply be 'implantation bleeding' or spotting from the cervix. It could also be the first sign of a pregnancy that is at risk for miscarriage and the most common reason for early first trimester miscarriage is a baby that has a chromosomal abnormality. At this point, an ultrasound should be able to tell you if the pregnancy is currently alive. Good luck to you and let us know how things turn out. Dr T
At Tue Apr 15, 02:51:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Senlik Apr 10: You are at VERY low risk for Down syndrome based on your serum screening results. The high PAPP-A is usually NOT a sign of trisomy 21....Dr T
At Tue Apr 15, 02:51:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To anonymous Apr 10: Congratulations on your test results and good luck with the rest of the pregnancy. Let us know how things turn out! Dr T
At Tue Apr 15, 02:56:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Liz Apr 10: If you have not had any more bleeeding, that early spotting should not increase your risk now. It was probably 'implantation bleeding'. Your 1 in 700 risk for Down syndrome is very reassuring and should not lead to a recommendation for an amniocentesis. In most hands, that is less than the risk of the amnio. I would still recommend a careful ultrasound at 18-20 weeks and if that checks out fine, to relax for the rest of the pregnancy. Good luck and let us know the outcome! Dr T
At Tue Apr 15, 03:49:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To confused in NY: First, just remember that both results are reassuring even though the Down's risk is 10-fold less on the second screen. Let me tell you my thoughts. Both of the serum markers, PAPP-A and hCG, vary by gestational age. The PAPP-A increases throughout pregnancy and becomes more similar in Down's babies and normal babies as gestational age advances. The hCG peaks around 12 weeks and then falls off to a lower ans more stable level throughout the rest of the pregnancy. The difference in hCG levels between Down's babies and normals INCREASES with gestational age at least through midtrimester, i.e., Down's babies are more likely to have higher levels of hCG. In your case, the 'real risk' probably falls between these values, however, your doctors should probably use the earlier study to assign an a priori risk to the pregnancy for counseling purposes as if you hadn't had the later study done at all. All I would recommend at this point is that you have a careful ultrasound done at 18-20 weeks. Thank you for reading and for a good question. Best wishes for the rest of your pregnancy and let us know how things turn out. Dr T
At Tue Apr 15, 03:52:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To anonymous Apr 11: The risk of the amnio depends on the experience of the operator, the difficulty of the procedure, and any recent complications you have had during the pregnancy such as bleeding or urinary tract infection. If there are no 'extenuating circumstances', the risk should be less than 1 in 500, but if you lose a baby following an amnio, and you are at low risk for having a baby with a chromosomal abnormality, the baby you lose is likely to be chromosomally NORMAL! Best of luck! Dr T
At Tue Apr 15, 03:58:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To anonymous Apr 12: The ultrasound alone picks up no more than 50% of chromsomally abnormal babies. Not all babies have thickened nuchal translucencies, especially if the baby has trisomy 18 or 13. The serum markers will help identify more than 90% of babies with trisomy 18/13. So, they are VERY important and in your case, that combination of the very low PAPP-A and high hCG should be respected in its prognostic value. I would suggest that you have an invasive diagnostic study done. I have addressed other causes of low PAPP-A and high hCG in other posts. Good luck to you and please let us know what you find out. Dr T
At Tue Apr 15, 04:01:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Tracy Apr 12: Oddds are that your baby is fine but your "screen positive" probably came from the AFP level that sits on the median for babies with trisomy 21. he hCG and the PAPP-A are very reassuring. Good luck and let us know how things turn out. Dr T
At Tue Apr 15, 04:03:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To anonymous Apr 12 04:15: Three to four days probably does not make much of a difference in the interpretation of the combined risk assessment results. Good luck to you! Dr T
At Tue Apr 15, 04:07:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To anonymous Apr 14: The maternal serum screening results did put you at high risk and they are, generally, more reliable than counseling you based on age alone. But, both detection rates AND false-positive rates increase with maternal age. More than 90% of babies with trisomy 18 can usually be confirmed by ultrasound. I am just glad the amnio results came back NORMAL so congratulations and you probably will sleep better the rest of the pregnancy knowing that the baby does not have a chromosomal problem. Best wishes and thanks for writing. Dr T
At Tue Apr 15, 04:16:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To anonymous Apr 14 01:47: In 2007, the American College of OB/GYN produced a position statement that maternal serum screening is an acceptable alternative to going directly to invasive diagnostic testing in women of ALL ages. The detection rate with a "screen positive" actually increases with maternal age and in your case should be about 90%. However, the trade-off is that the FALSE POSITIVE rate also goes up with age.

So, if the maternal serum test is "screen negative" you can probably just get away with a careful ultrasound. If that is also normal, odds are your baby is chromosomally normal. But, if the test returns "screen positive", that does not automatically mean your baby has a chromosomal abnormality. In fact, a normal ultrasound at that point also reduces your a priori risk (based on the maternal serum screen) by at least 60-80% if done by experienced hands. In other words, don't automatically panic with a "screen positive" result and an amnio may still NOT be necessary depending on your actual serum risk assessment. Good luck and thank for reading! Dr T
At Wed Apr 16, 11:33:00 AM 2008, Anonymous said…

Anonymous April 14, Thank you for responding Dr. T. I didn't realize that my age alone would put me at such a high risk nor did my doctor's office inform me of that. I do know that I found comfort in knowing that I wasn't alone from this site and I think your doing a wonderful thing by being available to all of us in our time of worry.
At Thu Apr 17, 03:06:00 PM 2008, Anonymous said…

Thank you ladies and Dr. T for all of your postings. I appreciate everyone sharing their experiences as they really put me at ease with my "Screen Positive" First Screen result. I am 36, 37 at delivery and had a NT-1.23MoM, PAPP-A-0.50MoM, hCG-1.12MoM, giving me a 1:130 chance of DS. I opted for the CVS @ 12wks. The FISH came back normal as did the final report and we are having a girl in Oct...Yippee! My only advice regarding the CVS is have it any day expect on a Thursday. The FISH results take two days and we were in agony over the weekend until the following Monday when the genetic counselor FINALLY called. God bless to all you gals and Dr. T!
At Sun Apr 20, 06:25:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To anonymous Apr 14/16: You are welcome and best wishes, again! Dr T
At Sun Apr 20, 06:27:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To anonymous Apr 17: Congratulations and thanks so much for sharing. Other readers will welcome your experience! Good luck for the rest of the pregnancy! Dr T
At Mon Apr 21, 02:02:00 PM 2008, ACS said…

Hi Dr. T, I received an 'increased risk' finding for DS from my 1st trimester screening (33 yrs, NT=2.7, PAAP=1.88, HCG=1.94; 1 in 161 risk). Not bad odds, but still when I saw the words 'increased risk,' my whole world just ground to a terrifying halt. I had amniocentesis last week, today I got the FISH results from my doctor's office--however, my doctor was not available and the only report I got was that everything looked 'normal' and that I should also remember that the results are preliminary. So I'm preliminarily relieved. I've got a call into my doctor and the genetic counselor to get more information on interpreting the FISH results, but while I'm waiting, I've got a couple of questions--I read that there is a 10% chance of a false negative, is this true? Also, how much information is usually given when they report the results of the FISH test? Thanks.
At Mon Apr 21, 05:37:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To ACS: It would be very unusual to miss Down syndrome on the FISH. The amount of information will depend upon how many chromosomal abnormalities were screened for by FISH in the laboratory your doctor uses. Odds are your baby is fine so good luck with the rest of the pregnancy. Let us know how things turn out! Dr T
At Tue Apr 22, 03:37:00 PM 2008, Margaret Stasiak said…

Hi Dr. Trofatter...I wrote in early April of my positive test results and, after an excruciating wait of 2 and a half weeks(where I am up here in Canada they only do FISH results if time is of the essence), I just found out I'm having a healthy baby girl! Thanks for your website...it's awesome having someone there to explain everything to you and calm you down!
At Tue Apr 22, 04:09:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Margaret: Great, Margaret. Thanks for letting us all know. Best wishes for the rest of the pregnancy and let us know jow things turn out! Dr T
At Wed Apr 23, 10:00:00 AM 2008, Anonymous said…

Hi! I posted a comment on April 12th,@4:14pm. I received the phone call with the results everything came back normal from the Amnio, and we are having a Girl!!!!!!
Now we can enjoy this pregnancy and we can have our 2omth old be a big part of this wonderful journey!!
I want to thank you for your comment! It really helped me having someone to talk to about my worries and concerns.
Thank You Again for your Support!!
Tracy
At Thu Apr 24, 06:40:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Tracy: Congratulations! Best wishes for the rest of your pregnancy. Dr T
At Fri Apr 25, 10:48:00 AM 2008, Anonymous said…

Dr. T: This column has been invaluable to me, thank you. I am 41 and will be 41 at delivery. I did the first trimester integrated screen with PAPP-A at .10 mom, hCg at 1.20 mom, NT at 1.70, which gave me a 1/91 chance of DS - better than my age-related odds. We decided against the diagnostic tests as we'd continue the pregnancy regardless. I unfortunately took the AFP test and came back with 1/92 odds of DS. AFP = 1.2 mom; hCg = 1.63mom; Estriol = .82 mom; Inhibin = 1.70 mom. We just had the 18 week targeted ultrasound and everything looked fine - bone growth good, no heart or kidney defects, no neck flap, etc... Had this done with very high tech equipment and very skilled personnel. Spoke with the genetic counselor and asked if we can now reduce our a priori risk further by 60-80% and her response was she thought that was high as only about 50% of DS babies show soft markers on ultrasound. For my mental sanity, can I use your 60-90% figures or is it really more 50%? Thank you.
At Fri Apr 25, 06:19:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To anonymous Apt 25: If no soft markers nor major abnormalities were found by experienced individuals, Personally, I would quote you a 60-80% risk reduction (and be thinking it is at least 90%!). You can use my numbers. I hope you sleep better and let us know how things turn out. Hugs, Dr T
At Sun Apr 27, 07:42:00 PM 2008, Anonymous said…

I am 38 (will be 39 at delivery) and am having the sequential done. The first trimester numbers came back at DS 1/2000 and Trisomy 18 1/8000 or so. I don't know the measurment for the NT but the doctor said it was normal. Now with the second blood test at 16 weeks my numbers for Trisomy 18 lowered a little bit but for DS came down to 1/350. I will have another ultrasound at 18 weeks to look for the soft markers, none of which were found at the first 12 week ultra (it is early to tell, I know). My maternal/fetal specialist says he does not recommend an amnio at this time and thinks my results were still great. But I am worried about the drop. I am acquiring the specific numbers for these tests tomarrow. But I noticed that in other postings you seemed very confident with the first trimester numbers when they were high. I don't know what to think...can you offer anything without the specific numbers?
Thanks, Robyn
At Wed Apr 30, 05:11:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

Robyn: I agree with your MFM. And, I would have recommended stopping with the first trimester screen. If the ultrasound comes back 'normal' your risk for Down syndrome will be less than 1 in 700 by the second screen, and your 'real risk' probably does lie somewhere between the first trimester and the second trimester results. Regardless, BOTH are reassuring compared to your 'age alone' risk and if you cannot live without knowing for sure, you can always have an amniocentesis done, regardless of the risk assessment results. I wouldn't recommend it, but that is YOUR choice, not mine. Good luck and let us know how things turn out! Dr T
At Wed Apr 30, 09:21:00 PM 2008, Anonymous said…

Hi Dr Kenneth. I am Anon 1 April 2007, and wanted to let you know that I have had the Maternal Serum test, and my ratio has changed to 1:2000+ so I am over the moon! Thank you for this website, it helped me understand and clarify what was going on in my muddled mind! Good luck to all of the other Mums out there xx
At Thu May 01, 10:37:00 AM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To anonymous Apr 30: Congratulations and all the best for the rest of your pregnancy! Dr T
At Thu May 08, 12:46:00 PM 2008, Anonymous said…

Wow, first of all let me say THANK YOU!!!! I received abnormal results today and just reading your comments has calmed me dramatically. Please help me interpret what I was told by a fairly curt perinatologist. I turned 35 y/o yesterday and am either 12 w 5 days or 13 w 2 days pregnant depending on which Dr I talk to. I am expecting twins, separate sacs/placentas, both boys (also found out today).
My hCG is .45, PAPP-A .36 Delta for Baby A -.09, Baby B +1.02. Baby A has a nucal thickness of 1.6 and Baby B 2.7 (The Dr. told me 2.5 is the high end of normal range). Baby A was within range on everything (after screening 1 in 5,541 for DW and 1 in 1,326 for Trisomies). Baby B before testing was 1 in 278 for DS, after testing 1 in 769. However, for Trisomy 18/13 before testing 1 in 520, after testing 1 in 150. The Dr did not pick up on any other visible abnormalities on ultrasound at this point and they are both measuring exactly the same size. He has me scheduled for an amnio in 3 weeks, but I am undecided on how to proceed. I am so torn. I am somewhat comfortable with "1 in 150" and not willing to risk the amnio, however, something about the disparity in results between the two has me extremely concerned. Can you she some light on that, and whether there is a higher margin of error for twins. THANK YOU! - Jennifer
At Fri May 09, 08:29:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Jennifer: At age 35, the risk for aneuploidy in first trimester for a singleton pregnancy is about 1 in 238 for Down syndrome and 1 in 114 for all chromsomal abnormalities. In twins that could be from completely separate eggs, that risk is about doubled that one of the babies could have a chromosome problem. Twins are also at greater risk for certain birth defects such as cardiac malformations that could lead to a high NT measurement. Personally, I don't think your numbers are that bad and under those cirumstances, you might simply consider awaiting a 'targeted ultrasound' on the babies at 18-20 weeks to decide about the amnio. If that is 'normal' the chance of the baby having Down syndrome is reduced by as much as 90%! Also ask yourself this, what would you do if one baby is chromosomally normal and the other has Down syndrome? All that needs to enter into your decisions. I wish you the best and let us know how things turn out. Dr T
At Fri May 30, 06:21:00 AM 2008, Anonymous said…

I recently got my first trimester results back and they said i have a 1 in 117 risk of having a baby with Downs. I'm 32 years old. They said the threshold was 1 in 270- anything below that was considered high risk. The baby's ultrasound had shown an NT of 2.6mm and apparently 2.5 was the top of what they considered to be High Normal. From the bloodwork- One of the proteins was normal and one was slightly elevated.
I thought that my dr would say let's just wait to do the quad test and wait for those results before making the decision whether to do the amnio or not, but she actually recommends that i get it done regardless of whether the quad comes out good or not.
any thoughts?
At Fri May 30, 06:06:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To anonymous May 30: I wish I had the maternal serum screening results to look at. Regardless, the composite risk is what it is. You have the risk of about a 38 year old woman for having a baby with Down syndrome. It is YOUR choice what you do next. You could have the amnio. you could have the "quad screen", you could have another ultrasound ot two. If nothing suspicious is found by ultrasound, your risk is reduced at least 60-80%. You MUST do what is comfortable for YOU and not what anyone else recommends unless that is where your comfort level lies and how much you need to know. Best of luck. Dr T
At Mon Jun 02, 07:31:00 PM 2008, lawyerchick said…

Hi, I'm not sure if you're still responding to these posts but wanted to try... I am expecting di/di identical twins from an IVF cycle. We are 99.9% sure they are identical. My NT scan returned a high risk result of 1:44 for my age at 32 due to a 3.3mm nuchal fold on one of the babies and a 2.3mm on the other. They only gave me the overall risk assessment based on the "high-risk" twin. Do you have any comments on how there can be such a discrepancy in the NF of identical twins? We have not had the blood test but will do an amnio at 15 weeks. Thanks
At Wed Jun 04, 05:03:00 PM 2008, julie said…

My first trimester screening showed a 3.4mm NT, 4.72MOM Free beta HCG and 3.84MOM Papp-a. They are 95,99 and 98 percentile, respectively. I am having an amnio in 2 weeks but I wanted to know what are some reasons that both the HCG and Papp are high, as well as a high NT. I read down's is high hcg and low papp. I am 34 and I have a 1:24 chance of down's. Also, I am of german decent and my husband is Egyptian - would that matter?
At Wed Jun 04, 07:21:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To lawyerchick: Even in genetically identical twins, there is some degree of variation of growth and environmental response. Not all babies with Down syndrome will have widened nuchal translucencies and some will have VERY wide NTs. Twins are also at increased risk for congenital birth defects, especially cardiac malformations, that can be (and often are) disparate between the babies and that may be accompanied by a wide NT measurement. In your case, I would recommend the amnio at 15-16 weeks and a careful fetal anatomic survey at 18-20 weeks. Best wishes to you and let us know how things turn out. Dr T
At Thu Jun 05, 10:31:00 AM 2008, Anonymous said…

Hi, I am 35 yrs old and had a very high AFP test result at 16 weeks. They tell me it was 10 moms and it is very high. I have had a level 2 sg done at 18 weeks and another basic done at 21 weeks and they both look good. They seem stumped as to why the test was so high and I am worried as to what the problem could be. Any suggestions would help. Thanks Worried in PA.
At Thu Jun 05, 11:46:00 AM 2008, Jennifer said…

Hi! I wanted to give you a quick update and thank you for your advice. I posted on May 8th about expecting twins, 35 y/o and Baby B having a 1/150 risk for Trisomy 13/18. I cancelled the amnio at 16 weeks and the peri did another through U/S. While he acknowledged that it is stille arly, he looked very closely at both babies. He used Baby A as the control feature because his results were so positive. He siad he sees absolutely nothing out of the ordinary. He even checked the way Baby B held his hands, looked at gait etc and said from a side by side perspective he would not be able to tell which one had scored differently. He also said it was still early, but that he felt he got a better look at the heart than he expected to this early, and can say that nothing catastrophic is evident. My next U/S is at 20 weeks. In close he said that he he feels I made the right decision re: the amnio and felt like he could safely say that the U/S "dramatically reduced his concern based on the original results."
At Sat Jun 07, 07:33:00 AM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To anonymous June 5: Presuming no fetal abnormality has been missed, the most likely cause is that there is/was some abnormality of the placenta that allowed some extra fetal blood to leak across into your circulation. This could have been a one time thing around the time the test was done (i.e., if you had had any bleeding or trauma to your abdome) or it could be an ongoing problem associated with an abnormality of placentation. Regradless, at that high MSAFP, you are at increased risk for fetal growth restriction, preeclamsia, and early delivery, so even if the baby looks good now, growth and Doppler flow studies will need to be followed on an ongoing basis until any problem in that regard is ruled out. Good luck and let us know how things turn out Dr T
At Sat Jun 07, 08:15:00 AM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Jennifer: That sounds good to me! Thanks for checking back with us and please let us know how things turn out. Dr T
At Fri Jun 27, 02:46:00 AM 2008, Anonymous said…

Dr. Trofatter,

I am 37 years old currently at 14 1/2 weeks gestation. I had NT screening at 13 wks and 2 days. The NT measured 1.5mm and the perinatologist stated the ultrasound looked great. However, when all testing results came back-including blood work- my age risk alone was 1:171 and with my results the risk decreased slightly to 1:217. This did not fall within their "cut off" of normal so I was considered high risk for DS. The trisomy risk was decreased significantly to 1:6700. My thinking at this time is to do the targeted ultrasound at 20 weeks and not do the amnio. My own OB agrees with this, just wanting a second opinion. Also, debating if I should do the Quad screen at 16 weeks?
Thank you for your advice.
At Sat Jun 28, 02:18:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To anonymous June 27: I would suggest only the MSAFP part of the quad screen at 16 weekes and then a good genetic sonogram at 18-20 weeks. If all that turns out fine, your a priori risk based on the firts trimester screen (not your age) is reduced at least another 60-80%. That would put you in a risk range of 1 in 400-500. Not bad and the least 'risky' approach from all standpoints. Let us know and thanks for writing. Dr T
At Tue Jul 01, 12:51:00 PM 2008, Sam From NY said…

Hello Dr. Trofatter.

My Wife and I just went to our 20 Week Ultrasound (Anatomy). We were told that our Baby Boy has Pyelectasis in one kidney of 3.5mm. We had the integrated screening and our results were
1:38500 for AFP
1:15500 For Tri 18
1:62200 For Something else

We are scared to all hell and completely anxious about this when the Doctor Mentioned the DS soft marker. We cant sleep... Its all we think about. The Dr. Doing the Ultrasound does not recommend an U/S. I know you cannot tell us what to do... But every post I read has completely different results.. Is this because I had the integrated? The risk seems to not compare to anyone elses... is it wrong?
At Tue Jul 01, 01:38:00 PM 2008, Sam From NY said…

This is Sam Again. Sorry.. I wanted to clarify my last post because it seemed a little anxious.

The doctor doesnt recommend an Amnio. The comparison I am talking about is the Risk Factor 1:100 for example. Everyone elses results are in the 100's/1000's. Ours seems abnormally high. I was wondering if the integrated vs. the Quad screen is why our numbers are like this.
At Tue Jul 01, 02:17:00 PM 2008, housewo said…

Hi Dr. T,

It seems you provide the absolutely best information available on these screenings. Thank you for all of the helpful information.

I am 36 years old and 11w4d pregnant with twins (first pregnancy) as a result of IVF with ICSI for male factor infertility (morphology). I had my first trimester screening on Friday at 11 weeks:

My PAPP-A was in the 20th percentile and free beta hCG in the 50th percentile.

Baby A's NT measured 0.8 mm; Baby B's measured 1.9 mm.

Genetic counselor says Baby B's risk for Down Syndrome is 1:200 (just about equal to the risk for my age). She equates this to a 99.5% chance that the baby is normal.

My husband is completely opposed to any invasive tests that could threaten the pregnancy. We're thinking we'll get more information from the anatomy scan at 18 weeks, but the genetic counselor says our risk will not be lowered by that scan. She was also unsure if we would be able to do the quad screening with twins.

Any advice you can offer would be greatly appreciated. Would you recommend CVS or amnio?

Thanks again!
Christine
At Tue Jul 01, 03:05:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Sam: You have fantastic screening results. The pyelectasis should be completely ignored. Even if the pyelectasis increased your risk 100-fold (which it does not...more like 1.5-fold!), your risk for having a baby with Down syndrome would be less than that of a 35 year old woman based on her age alone. The risk of an amniocnetesis is about 100-fold greater than the chance of having a baby with a chromosomal abnormality as well. Get some rest. You should be sleeping much better because of the test rather than losing a wink! Let us know how things turn out. Dr T
At Thu Jul 03, 07:26:00 PM 2008, Anonymous said…

I am 13 weeks pregnant following IVF/ICSI/PGD. We transferred one embryo with a normal PGD report (tested for X, Y, 13, 18, and 21) and subsequent ultrasound revealed that the embryo split to form identical twins. I just received my first trimester screen results done at 11w 0d, which were screen positive for Down's Syndrome at risk of 1 in 28. I will be 41.2 years at delivery, twin A NT was 1.2mm, twin B NT was 2.6mm, hCG MoM is 4.01, PAPP-A MoM is 2.20, and DIA MoM is 5.39. It appears that only twin B's NT was used in calculating risk. We have an appt with the high risk group and genetics counselor in 3 weeks and will most likely proceed with amniocentesis.

I hear about a significant number of false positive in twins. Is this true? Are there any other explanations for our uniformly elevated labs? Does the use of IVF affect the accuracy of these results? Also, have there been any reports of cases in which an embryo with a normal pgd report for chromosome 21 resulted in a live birth of a baby with Down's Syndrome or a fetus with confirmed Down's Syndrome through amniocentesis or CVS?
I greatly appreciate your assistance with our questions. Like I said, it will be several weeks before we meet with the genetic counselor, and we are anxious for information.
At Thu Jul 03, 07:36:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Christine: I would not do the "quad screen" but I would recommend that you have the MSAFP portion of that study done. Your genetic counselor is wrong. A 'normal' ultrasound at 18-20 weeks reduces the risk of Down syndrome (based on the earlier screening test) by at least 60-80% and the risk of trisomies 18 and 13 by more than 90%. Those are pretty good odds if the babies check out okay at that point! best of luck and thank you for reading. Dr T
At Thu Jul 03, 07:38:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Sam again: No Sam, your results are remarkably LOW and that is excellent. The integrated screen was so good that it blew the computer out of its socket. Most couples would kill for results like yours. Please get some rest! Dr T
At Tue Jul 08, 06:04:00 PM 2008, Shelly P said…

Hi Dr. T-

We got the results of our nuchal test today and they are as follows:

NT - 1.3
HCG - 1.34
PAPP-A - .051
Risk for Down's = 1 in 410
Risk for 13/18 = 1 in 10,000

The test was considered negative. I am 35 and this is our first pregnancy. We achieved it through IVF/ICSI after 4 1/2 years of trying to conceive. I am debating on whether to have an amnio. We would not terminate the pregnancy, but I guess I just want to know either way if the baby is going to have Down's. My husband is completely opposed to having an amnio, considering the great lengths that we went through to achieve the pregnancy. I would never want to put my baby in danger. Considering our odds, if we were your patients, would you suggest that we have the amnio?

Thanks so much!
At Wed Jul 09, 01:43:00 AM 2008, Anonymous said…

Doctor Trofatter, you've been our sanity check for the past 48 hours. My wife, Indian aged 31, has shown a positive risk of 1:180 for DS, with the following results:
CRL size: 62mm
HCG 0.81 MOM
NT 1.37 MOM
PAPP-A 0.27 MOM
CRL size :62 mm
As with others, our PAPP-A seems to be hurting us the most. Is the CRL size any cause for hope? Does race or nationality affect these norms?

This is her 2nd pregnancy, and we medically terminated the first 5 years ago.

From all the suggestions you've mentioned above, we're planning to (1) get a Triple marker test in our 16th week. Question: Is Quad Screen a better option?

(2) move on to a 'Genetic Sonogram' in 18th week. Question: If we keep the Amnio resort for week 20, will it be too late? What's the ideal week for the most accurate Amnio test?

(3) If we have to do an Amnio, will her previously terminated pregnancy have an added effect on the risk level to the foetus?

May God give us all the strength to face and defeat our worries.

Thank you.
Chinatown
At Sat Jul 12, 09:03:00 AM 2008, Anonymous said…

Hi Dr. T,

I'm currently 12w6d and had a NT indicating heightened risk (NT = 2.4 with gestational age of 11w1d). Our composite score left us with a down syndrome risk of 1 / 234 (at age 32, my age risk is 1 / 440). Our blood work looked great and the only condition with heightened risk is down syndrome. Would you recommend amnio under these circumstances?
Thank you! Anonymous MD
At Sat Jul 12, 11:47:00 AM 2008, Anonymous said…

Dr. T,
Your last response left me feeling as though the autopsy results would show a chromosomal malformation or something else, heart or brain. Our son's results just came back as a healthy baby boy and ruled it a cord accident. We were wanting to try again but I have yet to have a menstrual cycle since the stillbirth. I would like your input on the fact that you believed that the nuchal cord x5 was probably not the cause. I am going to turn 40 next month and afraid something was overlooked. I do not think I could survive another outcome so devastating. Thanks again for any light you can shed on our sad ending.
Amnio Ambivalence, Fri.Mar.14
At Sat Jul 12, 03:51:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Shelly P: Personally, I am on your husband's side but in the end the choice is yours. Just remember, those are good risk results and are less than the quoted risk of the amniocentesis in many provider's hands. also remember, if you did lose a baby as the result of the amnio, odds are that it would be a chromosomally NORMAL baby you would lose. Under the circumstances, I would withold a decision to do an amnio until you have a good 'genetic sonogram' at 18-20 weeks. If there is something abnormal at that time, it is not too late to do the amnio and if it is completely 'normal', your risk is reduced by as much as another 90%. Good luck and let us know how things turn out! Dr T

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