Abnormal First Trimester Screening Results
Thursday, January 04, 2007
Kenneth F. Trofatter, Jr., MD, PhD
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.
212 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 2