Understanding Interpretation of First Trimester Screening Results
Tuesday, April 22, 2008
Kenneth F. Trofatter, Jr., MD, PhD
• At Thu Apr 10, 05:39:00 AM 2008, Anonymous said…
I am 40 years old, 11 weeks pregnant by ICSI (intracytoplasmic sperm injection) and very worried. Can you please help me to understand these results (MoM?) taken 10+3 week.
PAPP-A: 1169,58 mU/L
free beta hCG: 47,40 Mg/l
NT: 2.5
The risk for Down syndrome was estimated to be 1 in 10.
Thank you!•
At Mon Apr 14, 06:02:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…
To anonymous Apr 10: In your case, the increased risk for Down syndrome is probably being driven by at least your age and the relatively increased NT (nuchal translucency) measurements. I cannot comment on the absolute values of the PAPP-A and hCG because I need the multiples of the median (MoM) for these to see how they might be contributing to the overall risk. Let me explain...
Maternal serum markers (in this case the free beta-hCG and the PAPP-A) steadily change as the pregnancy progresses (i.e., by weeks' gestation) and these changes are quite significant during this early part of the pregnancy while the placental tissues are rapidly proliferating. During pregnancies in which the baby is chromosomally normal, the hCG levels begin to drop toward the end of first trimester and then level off and the PAPP-A levels tend to increase gradually throughout the pregnancy. In the case of a baby with Down syndrome (trisomy 21), the hCG levels are often elevated and the difference between chromosomally normal babies and those with Down syndrome increase as the pregnancy progresses. Earlier in pregnancy, PAPP-A levels tend to be lower than normal in Down syndrome, but the difference between chromosomally normal babies and Down’s babies tends to decrease with gestational age. In the case of trisomy 18 (Edwards’ syndrome), both hCG and PAPP-A levels tend to be lower than normal.
Because of the changes in serum marker levels by gestational age, for accurate interpretation of the test results, a different reference range must be used for each week of gestation, depending on when the test is drawn. To avoid the multiple reference range problems and also to standardize test results between different laboratories, whose reference ranges also vary, a MEDIAN value for test results in normal pregnancies is determined in each laboratory for each week of gestation.
If one arranges all the numbers in a set of data from the highest to the lowest values, the ‘median’ is the number in the middle of the data set. It is not the ‘average’ or ‘mean’ of the dataset. The median is primarily used for skewed distributions and it is seen as a better indication of central tendency than the arithmetic mean. It specifiaclly helps to provide a more robust measure of ‘central tendency' in datasets that contain outlier values. For example, if you have a dataset that contains the 9 numbers (2, 2, 2, 3, 3, 3, 4, 5, 21), the median would be 3 (the fifth number, but the arithmetic mean would be 5.
Anyway, a patient's maternal serum marker results are then expressed in each laboratory as multiples of the median (MoM), rather than as a raw 'marker' concentration. It has been found that maternal weight, maternal race/ethnicity, smoking, and maternal diabetes mellitus (insulin-dependent) variably affect maternal serum marker value. Most laboratories today correct the MoM for these conditions so that a given MoM value accurately reflects the risk of abnormality. Laboratories request that information related to these conditions be included, along with the gestational age, when the specimen is submitted. There is sufficient data available now that these 'corrections' improve the reliability of the screening tests. All this is done by computer analysis of very large data bases, so I am not able to push the numbers with my own little brain!
Thanks for a good question and I hope this helps you understand your test results better.
Dr T
• At Mon Mar 31, 08:39:00 AM 2008, Anonymous said…
Dr. Trofatter,
This posting is timely as I have just received back my results of the first trimester risk assessment and was found to be ‘screen positive’ with a risk of 1 in 33 for Down's. My baby’s nuchal translucency was 1.7mm, there was a nasal bone present, my free beta-hCG was 2.43 MoM, and the PAPP-A was 0.48 MoM. I'm trying (unsuccessfully) to focus on the 97% chance that my baby is fine. I elected not to have CVS because I received my results too close to the end of the 12th week to have sufficient time to decide, so I've deferred to having an amniocentesis in 3 weeks. My question is why 32 of the 33 women will have a normal child but still have abnormal lab values? Also, can more credence be given to the blood tests or the ultrasound in having predictive value or do all receive equal weight in determining risk?Thank you for your time. I enjoy your blog very much.
• At Fri Apr 04, 07:37:00 AM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…
To anonymous Mar 31: The different variables (maternal age, hCG, PAPP-A, nuchal translucency, etc) are given variable weights when factored into the risk assessment and that evens varies with gestational age (as detailed in the response above). I do not know exactly how that is determined and rely entirely on the large database that we all use when we perform these studies. The reason more 'screen positive' women will actually have a "normal" baby is one of the primary downsides of a SCREENING test rather than a diagnostic test. Screening tests are valuable if they have low false negative results (in other words, they point to the possibility of an abnormality), but the trade-off is a comparatively high false positive rate.
In the case of first trimester screening, if you are "screen positive (abnormal)" it is unlikely that a baby with trisomies 21 or 18/13 will be missed and that gives you the opportunity to have a diagnostic study done that will actually rule in or rule out the abnormality. In contrast to popular opinion, good screening tests do help reduce the number of diagnostic procedures that have to be done and help to pick up abnormalities in patients who would not ordinarily be considered 'high risk' by age alone, for example, in the case of fetal chromosomal abnormalities.
Hope this helps. Best of luck to you and let us know how things turn out!
Dr T
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Labels: first trimester screening, MoM, multiples of the median
46 Comments:
At Thu Apr 24, 01:03:00 AM 2008,
Anonymous said…
Dr.T
Dr.T, I am32 years old and I am 7 weeks pregnant. I have a 4 year old and on February 26th 2006 I had a still born. The autopsy found that it was due to Thrombosis of the umbilical cord. I was 38 weeks.After speaking with my doctor he said that the baby died because he moved and blocked the umbilical cord from providing him with oxygen. Since the accident I looked for answers, why did this happen to me? I found a different doctor where after a thrombo-phylia test he found that I am a carrier of mutant Homozygous of Factor XIII V34L.
I was loaded with Vitamin B complex and folic acid 5mg for two months. Now I am pregnant and 7 weeks. I am on Clexane injections 2000anti-xa IU/0.2ml on a daily basis and now on aspirin 75mg daily. The doctor wants to stop the injections and continue with aspiring until 16 weeks.
The doctor also suggested that I eat healthy and not take any extra pregnancy vitamins. I have had a lot of problems with my stomach after the still born (diarrheas’ and weakness) but I have been well and diarrhea free for a year now. I have been on prevacid in the past also for my stomach;
My concern is if this therapy has any site effects that can hurt me or my baby. And please let me know if there is anything else I need to do to make sure nothing goes wrong this time. My body went through a savior shock after the still born and I do not know what I would do if I experience the same again.
At Thu Apr 24, 05:04:00 PM 2008,
Brendamng said…
Hi, today i had my second ultrasound and it was so unusual that i am now searching for answers. first let me give you some history, this is my 10th pregnancy. i have had 3 children one of whom died when he was 4 months old. I also have a bicournate uterus(full division). i had a miscarraige on 26th febuary,erpc was performed. found out i was expecting again 4 weeks later. i have extreme high bp. i had my first ultrasound 1 week ago. there was 2 sacs. sac one had a fetus with a strong heartbeat and sac two there was a flutter. sac 2 was measuring a week smaller than sac 1. dr did not think that twin 2 would develop but rescanned me today to make sure. sac 1 fetus growing fh strong. sac 2 had also grown but inside this sac there was 2 more sacs. no more fh were seen. dr said that she has never seen anything like this and has requested a follow up by someone specialising in early fetal accessment. do you have any idea what this could be? i am nearly 8 weeks. thank you
At Sat Apr 26, 11:55:00 AM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To brendamng: When an embryo is lost very early, the yolk sac will enlarge and "balloon". There is no live baby in that gestational sac. You have what is frequently termed a 'vanishing twin' and since it was lost so early, that baby was probably chromosomally abnormal. If the other baby is normal, there is a very good chance that you will go on and cary the pregnancy. Best wishes and let us know how things turn out. Dr T
At Sat Apr 26, 02:50:00 PM 2008,
brendamng said…
thank you for your quick reply. I have an appointment for us on monday so hopeully i get the same answers. what arethe chances of the other baby being ok? i just ask because my son that passed away 3 years ago died suddenly. when born he was 615 grams. he was ill for along time, he never left the nicu of the hospital. he was on a vent for 11 weeks. when he died he had progresse really well. he was recieving nasal prong oxygen and was taking no meds. the hospital say it as a cot death. the coronor said that bpd was a factor in his death and 2nd that he had a severe metab olic disorder. the hospital claim thatthis was not the case. i do not want to do anything legal about his death but would like to protect myself and my kids for the future. i can neverbring my little boy bac but maybe his death was for a reason. thank you
At Tue Apr 29, 08:37:00 AM 2008,
Anonymous said…
Dr. T,
I am 34 weeks pregnant and have had to have follow up ultrasounds because of a liver calcification that was seen at my 18 week scan. My original nuchal translucency screening test results were..
CRL- 68.5
NT- 2.2 mm
HCG mom-3.99
PAP-A mom- 0.92
The nasal bone was present and based on the blood test, NT measurement and my age the risk for down syndrome was 1 in 705. As I approach the end of my pregnancy I feel growing anxiety due to the need to have follow up scans which have only shown an isolated liver calcification . I am concerned about the high HCG level. I have had a level 2 ultrasound and 2 other follow up ultrasounds. Should I have any reason to be concerned at this point?
Thank you
At Wed Apr 30, 05:58:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To brendamng: You are welcome. I am sorry to hear about your other child and truly wish you the best with this pregnancy. Dr T
At Wed Apr 30, 06:06:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To anonymous Apr 29: In my experience, most isolated liver calcifications, in the presence of normal fetal growth and the absence of congenital malformations are not associated with long-term complications for the baby. I would suggest having your baby's urine screened for cytomegalovirus infection after delivery. I do not know of any relationship between elevated hCG in first trimester and hepatic calcifications either. Hopefully, your baby will do just fine, so please let us know how things turn out - especially if there are any problems. I learn from my readers too! Thanks for writing and best wishes. Dr T
At Wed Apr 30, 06:15:00 PM 2008,
Anonymous said…
Is taking low doses of tylenol (such as infant tylenol) beneficial to the healing of the uterus lining? Or is that something that just has to heal own its own after time?
At Thu May 01, 10:06:00 AM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To anonymous Apr 30: No, I cannot imagine any beneficial effect of tylenol on the endometrium. An antiinflammatory agent (like ibuprofen) may help under certain circumstances, but it depends on what those circumstances are. Why do you ask? Dr T
At Thu May 01, 04:00:00 PM 2008,
Anonymous said…
I read somewhere that taking low doses of tylenol could help in the healing process. I was just wondering how true it was. Of course, you can't believe everything you here. There was no explanation as to why they thought it was beneficial. Thank you for your professional input.
At Fri May 02, 08:13:00 AM 2008,
Katie said…
Hi Dr. Trofatter,
Thank you so much for your blog - this is the only one I found on the web addressing these issues. I am 34 years old, this is my first pregnancy, and I had the tests done at 12.9 weeks.
NT = 2.0mm (1.18 MoM)
PAPP-A = 1.24 MoM
hCG = 3.18 MoM
Nasal bone = present
My risk was determined to be 1/140 for Downs and 1/10,000 for T18.
Unfortunately, due to my move from Hawaii to the states, I have not received this news until now (week 22 of pregnancy). I am wondering what your recommendation would be given that my window for terminating the pregnancy if the baby has Downs is very small.
Also, I had vaginal bleeding in my 1st trimester, could this have impacted why my hcG levels were so high? Why such a discrepancy between my hgc and other measurements?
Thank you so much!
Katie
At Thu May 08, 06:16:00 AM 2008,
olga said…
Dear Dr Trofatter,
Could you please help me to interpret my contradictory first and second trimester screening results. I am 39. I got pregnant by IVF with my own eggs.
FTS 12 weeks result: NT: -.48, Nasal bone present, Down Syndrome 1:985
Second trimester screening 16 weeks
AFP-(MOM)1.1, HCG-(MOM)2.14, UE3-(MOM)0.58, INH-(MOM)2.32 - Down Syndrome 1:10
Ultrasound results are very good without any signs of abnormality.
I found some studies that reported a significant difference in the level of second trimester biochemical markers between IVF patients and spontaneous pregnancies (Wald et al., 1999b).
In DS screening in IVF pregnancies, hCG and uE3 values should be adjusted to avoid the high screen positive rate.
I prefer not to do amniocentesis.
Thank you so much!
At Fri May 09, 08:12:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Olga: You got trapped! With those first trimester results, I would not have recommended doing a 'quad screen.' But, you did and the decision is a lot tougher. Odds are that the baby is normal and that your real 'risk' falls somewhere between the two test results, perhaps because of the IVF as you point out, but I cannot tell you where that risk lies! If you use the second test, even with a normal ultrasound that reduces your risk by 90%, you still will be at 'increased risk'. The final decision is yours and none of us can tell you what is best under these circumstances. You could ask the laboratory to give you the risk using the COMBINATION of the two tests (an integrated risk assessment) and see if that helps. Best of luck to you and let us know how things turn out. Dr T
At Sat May 10, 07:03:00 AM 2008,
olga said…
Thank you doctor for your helpful reply. I enjoy reading your blog.
I feel trapped in the situation and cannot ignore the numbers. Unfortunately, my OB did not volunteer information about the 'quad test' . I thought my blood was tested only for Neural Tube Defects.
My ultrasound doctor gave us combined approximated risk 1:100, which is still in 'increased risk' category. Now we are in a process of making a difficult decision about an amnio.
My husband and I are aware that an amniocenteses are relatively safe procedure but because we could not conceive for a long time I am afraid of hurting our baby.
Sincerely,
Olga
At Mon May 12, 07:03:00 PM 2008,
hea1 said…
Dear Dr. T,
Wonderful blog! A couple questions following my first trimester results:
Age at delivery 37
NT 1.4 mm
HCG 2.23 MoM
PAPP-A .48 MoM
Mis-reported my weight by 35 pounds (?)
Three healthy normal prior pregnancies
I had a somewhat low progesterone levels at four weeks and was placed on 600 mg per day of Prometrium which I stopped at 10 weeks. I also have an egg sized cyst on my left ovary right now. Can these things cause an elevated HCG level? Also, can moving from sea level to 9,000 feet influence my PAPP-A levels? Haven't been in Colorado too long. I appreciate any advice you might have for me,
Thank you,
Worried in Colorado
At Tue May 13, 06:52:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
Olga, at a risk of 1 in 100, one option is to simply wait until you have a good 'genetic sonogram' done at 18-20 weeks. At that point, if there are any fetal abnormalities or significant 'soft markers' for Down syndrome, you will feel more comfortable about the decision to do the amnio and you could have a FISH study done at that time that will give you a result within 72 hours. Odds are in your favor that this baby is fine and this is a VERY important pregnancy (as all are) for you and your husband. Let us know how things turn out! Dr T
At Tue May 13, 08:50:00 PM 2008,
ldattarm said…
Hi Dr. T:
Have gone through many of the threads and can't quite find a comparision for my results. I have also asked a number of questions, spent considerable time and the web and have not really gotten answers to my questions. Hoping that you can help to clarify.
I had the first trimester screen done and have the following stats:
CRL: 65.5mm
Gest Age: 12.7 weeks
NT: 1.2mm, 0.75 MoM
PAPP-A: 0.95 MoM
beta HCG: 1.46 MoM
Age: 44
Screen Risk: 1:135 Downs
Screen Risk: 1:10,000 Trisomy 18
Age Risk: 1:20 Downs
Age Risk: 1:70 Trisomy 18
Risk Cutoff: 1:50 Downs
Risk Cutoff: 1:100 Trisomy 18.
I understand the range that the for the NT scan (under 2mm) is good at 1.2mm, but I am not understanding how the blood work rates. Good, bad, ??? This was an IVF pregancy. Could you please help to explain if the blood was in a good range and what the overall intrepretation of the results should be? Thank you in advance for your insight. Lauri
At Wed May 14, 04:00:00 PM 2008,
Anonymous said…
Dr T.
Thank you for your insightful comments. My wife and I have been trying for a baby for 4 years. After 2 failed IVF cycles (and three transfers), we decided to give it one final attempt. We opted to have PGD screening done, and a day 5 blastocyst transfer. Only one embryo from the harvested 12 passed the PGD screening, but it passed with flying colors, and we duly transferred it. We then received the fantastic news that we were pregnant, and not only that, but the embryo had split and we are to have twins (monchorionic/diamniotic)!
We just got the results of first trimester screening report, and results are concerning, and I’m hoping you can help discern them. The main question I have is the following:
Our excellent PGD results are not taken into account in the initial age related risk. Surely this should significantly reduce our initial and subsequently overall risk. Our genetics councellor and perinatal Dr. do agree with this point but have no idea how to quantify this risk reduction.
If our risk was above the 1:311 cutoff (which by the way seems completely arbitrary) we probably would not opt for an amnio, but now we don’t know what to do.
Thanks in advance
Gest Age: 13w0d
Free Beta hCG (MOM): 0.65
Maternal age at EDC: 38
PAPP-A MOM 0.24
NT Twin A: 1.7
NT Twin B: 2.4
Age Risk: 1:153 Downs
Screen Risk: 1:232 Downs
Cutoff Risk 1:311 Downs
At Wed May 14, 04:35:00 PM 2008,
Anonymous said…
Dr T.
Thank you for your insightful comments. My wife and I have been trying for a baby for 4 years. After 2 failed IVF cycles (and three transfers), we decided to give it one final attempt. We opted to have PGD screening done, and a day 5 blastocyst transfer. Only one embryo from the harvested 12 passed the PGD screening, but it passed with flying colors, and we duly transferred it. We then received the fantastic news that we were pregnant, and not only that, but the embryo had split and we are to have twins (monchorionic/diamniotic)!
We just got the results of first trimester screening report, and results are concerning, and I’m hoping you can help discern them. The main question I have is the following:
Our excellent PGD results are not taken into account in the initial age related risk. Surely this should significantly reduce our initial and subsequently overall risk. Our genetics councellor and perinatal Dr. do agree with this point but have no idea how to quantify this risk reduction.
If our risk was above the 1:311 cutoff (which by the way seems completely arbitrary) we probably would not opt for an amnio, but now we don’t know what to do.
Thanks in advance
Gest Age: 13w0d
Free Beta hCG (MOM): 0.65
Maternal age at EDC: 38
PAPP-A MOM 0.24
NT Twin A: 1.7
NT Twin B: 2.4
Age Risk: 1:153 Downs
Screen Risk: 1:232 Downs
Cutoff Risk 1:311 Downs
At Thu May 15, 06:04:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Lauri May 13: At age 44, those are GREAT test results. I would not recommend anything else at this point except perhaps an AFP test (alone, not a "quad screen") at 16 weeks and a 'genetic sonogram' at 18-20 weeks. Relax! Odds are in your favor that the baby is just fine. Let us know how things turn out. Dr T
At Fri May 16, 02:28:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Worried in Colorado: You left out some important information for me! What was your combined risk assessment result? At your age and with the relatively high hCG and comparatively lower PAPP-A, I presume you were given an increased risk for trisomy 21. The first thing you might have your doctoors do is ask the lab to recalculate the result with the different weight. I don't know wheter that will make things better or worse at this point.
Anyway, the cyst should not affect your hCG levels. The move to Colorado is a question I cannot answer! Your body should adapt fairly quickly to the higher altitude, but there are lower oxygen levels...hmmm....great question, so why don't you ask an MFM specialist who lives in Colorado?!? There are some good ones there. Please let me know what you find out. Best wishes and thank you for reading! Dr T
At Fri May 16, 02:36:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To anonymous May 14: With what you have been through, my suggestion would be to NOT DO ANYTHING at this point. The babies must be identical, so they have the same chromosomal complements. Other things can cause slightly increased NTs in twins including cardiovascular malformations (which are more common in twins, even if they have identical chromosomes) and twin-to twin transfusion syndrome. If you don't have an MFM specialist, I suggest you find one! In your situation, I would offer you another sonogram at 16 weeks to reevaluate the fetal staus and growth (and get at least some sense of the normal aanatomy) and then again at 18-20 weeks. There is plenty of time to get an amnio if you feel like you have to for peace of mind. By the way, with your wife's history of infertility and the twin pregnancy, ask your doctors to evaluate your cervical length at that later ultraound as well. Infertility patients are at increased risk for cervical incompetence as well! Good luck, thanks for reading, and let me know what you find out! Dr T
At Fri May 16, 06:18:00 PM 2008,
Margaret said…
Dear dr. Trofatter:
I agree that your blog is by far the most informative, especially for those of us who need more detailed information about our pregnancies.
I am 44 years old and 15 weeks pregnant. This is my second child. My daughter is 3 years and four months. I have been very lucky getting pregnant naturally, right when I have planned it. Unfortunately, I had two miscarriages. One at 8.5 weeks three months before my daughter was conceived and second at 10.5 weeks two months before beginning of this pregnancy.
My first pregnancy was a great experience without any problems ending with short labor and vaginal birth. This time, I was not so lucky. My CVS indicated that two out of 20 cells showed trisomy 2. The doctor who performed the CVS told me that it is most likely the case of placental mosaicism and that my baby should be fine. I have read all there is to be found on the Internet about the trisomy 2 and placental mosaicism. Medical journals tend to publish most extreme cases and this does not help in easing my anxiety. I am scheduled to have amnio on May 20th. I am terrifies that results will show that the baby has also been affected.
I would greatly appreciate any insight that you can give me about my case.
Thank you.
At Sat May 17, 06:55:00 AM 2008,
Anonymous said…
DR.T
I am 40 years old and just had IVF treatment to achieve my first pregnancy. I had two screenings. The second screening was offered after i arranged a private one but has given me confusing results.
Combined test one:
At 11 weeks 5 days
CRL 60.3mm
NT 1.4 mm
Free Beta HCG is 3.2910
Maternal Serum PAPP-A is 2.0049
adjusted risk T21 1: 1341
Combined test two
At 12 weeks 4 days
CRL 72.7mm
NT 1.6mm
Free Deta HCG is 3.66
Maternal Serum PAPP_A is 2.12
adjusted risk T21 is 1:170
Other inf:
Nasal bone present on both scans and other anatomy checked as normal. Heart rate at 160 bpm
I was given a 1: 374 based on NT alone in test two.
Question:
There is such a big difference between these combined test 'risk' figures. Should i have an Amnio? I was feeling reassured and now I am very worried . I should not have done two tests to confuse things but the inconsistency in the blood result is making me feel concerned. Is this HCG really really high and the PAPP-A low?
I am not sure which factors were used to plug into the computer programme at the different labs ie did one lab factor in ivf and the other not?. Why does a week make such a big difference to the adjusted risk?
I would very much appreciate your help.
kind regards
JJ
At Mon May 19, 02:02:00 PM 2008,
Anonymous said…
Hello,
I received the results of my First Screen for Down Syndrome and Trisomy 18.
Age at term: 40
NT:1.2mm
CRL: 50.4mm
Gest Age: 11.4wks
Results:
NT 0.92MoM
PAPP-A 0.74MoM
hCG 1.62MoM
Interpretation: Screen Positive - Increased Risk of Down Syndrome.
They suggested CVS. With this results should I do the CVS or wait for week 16 to do the Amnio?
Thank you. Adriana.
At Sun May 25, 03:56:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Margaret May 16: I am sorry that I did not see your comment before you had your amnio, but most trisomy 2 mosaicisms are isolated to the placenta as you were told. If your amnio indicates that there is a possibility that the baby has this as well, please write back and I will tell you my thoughts. Hope things went well with the amnio and we will be pulling for you. Dr T
At Sun May 25, 04:06:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To JJ May 17: I will never understand why folks have repeated tests by different providers and by different laboratories! Almost invaraibley they are put in the situation you have gotten yourself into! Both the hCG and the PAPP-A are on the high side, so it is probably unlikely the baby has Down syndrome. The elevations of both might be the consequence of your IVF therapy as well.
Personally, I would have gone with the results of the earlier test (and stopped) but since you didn't, the earlier the test is done in first trimester screening, the more reliable the serum markers tend to be. Your later increased risk is again being driven by the hCG (and your age), and this is because as pregnancy progresses, the hCG falls from its high in first trimester to a stable, much lower level. For most of my patients with even a 1 in 174 risk, I usually recommend waiting for a 'genetic sonogram' before making a final decision about having an amniocentesis, but that choice is yours. I bet everything will be fine. Why don't you let us know what you decide to do and how things turn out. Best wishes and thanks for reading! Dr T
At Sun May 25, 04:08:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Adriana May 19: You were "screen positive" but what was the actual risk for both Down syndrome and trisomy 18? The hCG is slightly elevated, but the other numbers look pretty good. Let me know and I will tell you what I think. Good luck! Dr T
At Wed May 28, 06:19:00 AM 2008,
Anonymous said…
Dear Dr T
Thank you for your reply.I will have a detailed scan at 16 weeks. What level of reassurance will this give? I prefer to do the scan sooner rather than later. I wish to avoid amniocentesis due to repeated IVF. Thanks again for all your help. Best wishes and kind regards
JJ
At Wed May 28, 02:21:00 PM 2008,
Anonymous said…
Dr. T,
I am 38. I had the FTS done at 12w4d with these results:
NTF: 1.3 mm
hCG: 1.4 MoM
PAPP-A: .57 MoM
My risk based on age was 1:126 and my screen risk is 1:303, which sounds pretty good to me, however the lab has a cut-off of 1:304 so they consider me a "screen positive" and have said I am increased risk for Down Syndrome (my T-18 numbers were fantastic). How concerned should I be? My OB says that the numbers look fine so it must've been my age that drove up my risk. That doesn't make sense though, because I know several 40+ year olds who had much lower risk than mine. There must be something in that bloodwork that doesn't look good. Could you tell me how those numbers look to you?
Thank you so much!
At Wed May 28, 05:10:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To JJ: If the scan is completely normal at 16 weeks, there is a very good chance the baby is too and I would put off thinking about the amnio! I would still recommend a 'level 2' or genetic sonogram at 19-20 weeks to look more carefully at the baby's anatomy so that if anything is suspicious at that point, you could still have the amnio performed. Good luck and let us know! Dr T
At Thu May 29, 02:27:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Anonymous May 28: Your risk is what it is - 1 in 303! That is pretty darn good. Just because the laboratory cut-off for calling someone "screen positive" is 1 in 304 does not mean your risk is any higher than what you have been gven. So, what you do from this point forward depends on whetehr you view the cup as 99.7% full or as 0.3% empty! Personally, I would not recommend anything else be done except a good ultrasound at 18-20 weeks! Good luck and please let us know how things turn out! Dr T
At Fri May 30, 06:19:00 PM 2008,
Margaret said…
Dear Dr. Trofatter:
This is Margaret, 44years old with CVS trisomy 2 mosaicism diagnosis.
Thank you very much for you response and kind words. My amnio went well; it was a bit more painful than CVS. I have just received my results. Happily, the baby does not show any signs of trisomy 2. However, I was told that there is a theoretical possibility that, because of mosaicism, there may be some concerns as to the proper functioning of the placenta. I want to be as informed and proactive as I can to ensure that I and my baby get a proper care. During our initial discussion, my obstetrician said that monthly ultrasounds to monitor baby’s growth should be enough. I would greatly appreciate your input on how such case should be followed and if there is anything else that should be done.
Thank you again.
Margaret
At Tue Jun 03, 07:08:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Margaret: Simply following fetal growth, amniotic fluid, and Doppler flow studies every 3-4 weeks will usually pick up a problem related to placental insufficiency in time to monitot the baby more carefully. BTW, congratulations on the test results. Bet things turn out just fine. Dr T
At Tue Jun 10, 12:51:00 PM 2008,
Anonymous said…
Dr. T.,
I am 40 years old and pregnant with my second child. I had my first trimester screen done with the following result:
NT - 1.4mm
DS Risk - 1:185
T 18 - 1:2500
I just received my second trimester triple screen results which showed:
DS Risk - 1:5900
T 18 - 1:10000
Based on the first result for DS, I was considering amnio (when pregnant at 38, my 1st trimester DS risk was 1:2900 so I was a bit surprised at 1:185). However, based on the second result, amnio doesn't seem necessary now. I have a level II ultrasound scheduled next week with a specialist (at 17 1/2 weeks gest). What would cause such a discrepancy between the results and if the level II ultrasound is ok, do you think amnio is justified based on the first trimester result?
At Wed Jun 11, 07:16:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To anonymous June 10: I would not recommend the amnio with those test results unless something abnormal is seen on the ultrasound. Both screening tests were very reassuring for your age and the risk of Down syndrme is VERY low. By the way, the tests measure different serum 'markers' and those markers change in concentration with gestational age. Best wishes! Dr T
At Thu Jun 12, 09:29:00 AM 2008,
Anonymous said…
Dr T,
I just received the 2nd trimester screening . Here are the results
Age:32
Gest Age:17.1
HCG-MoM: 2.58
APF-MoM:1.21
DS Risk - 1:235 ( Cutoff Risk: 1:270)
T 18 Risk-1:20530( Cutoff Risk:1:100)
The Lab Suggest that i have inreased risk of DS.
I am a bit worried about this. Is my HCG very high? What should we do next?
Thank you!
At Sun Jun 15, 09:10:00 AM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To anonymous June 12: the hCG is above the 95th percentile, but there are other things that can cause a high hCG at this point as well. Your risk for Down syndrome is about that of a 35-36 year old woman, however, the odds are still in your favor the baby is perfectly normal. Your choices are to have an amniocentesis or to await a genetic sonogram at 18-20 weeks and base your amnio decison on those results. A normal ultrasound at that point reduces your a priori risk (based on the screening test, not your age) by at least 60-80%. The choice is entirely yours! Best wishes and let us know how things turn out. Dr T
At Tue Jun 24, 06:07:00 PM 2008,
Heather said…
Dr. T - Thank you so much for your help in interpreting results! I am 40 years old, and 14 weeks pregnant via IVF. My screening results at 12w4d were:
NT = .7
betaHCG = .96 MoM
Papp A = .47 MoM
My age-related risk for DS was given as 1 in 58; post screen quoted risk of 1 in 142 for DS, 1 in 204 for trisomy 18.
I was told both the NT and beta HCG are very good - it is just the Papp A that is low. What percentile is my Papp A result? Could the low Papp A number have been caused/impacted by IVF?
We'd prefer not to do an amnio, but do want to make the right decision. At this point, I have a level II ultrasound scheduled for 16W5d - if things look normal on that ultrasound, would that reduce my risk even further?
Heather
At Thu Jun 26, 07:21:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Heather: Tjose are actually very reassuring results for a 40 year old woman. The PAPP-A is at about the 5th percentile, but the important thing in the risk assessment is the COMBINATION of factors. There are many other reasons for a low PAPP-A. In fact I have svereal other posts over the past year or so that address those. Chances are your baby will do just fine. A normal ultrasound will reduce your risk for trisomies 18/13 by at least 90% and for Down syndrome, at least 50-80%. Good luck and let us know how things turn out. Dr T
At Fri Jun 27, 10:31:00 PM 2008,
Jmo said…
Dear Dr. Trofatter,
I just got the results of my first trimester screen, and now I am quite concerned. I had a miscarriage in November, and got pregnant again in April. The day of my test, 6/24, the gestational age was measured at 12 wks 5 days. I will be 39 when I deliver. The genetic counselor informed me that my age related risk was 1 in 65, which seems high. The Nuchal test went well, and the doctor was pleased, and felt with a good blood test result I could avoid amnio. However, the blood results came back as cause for concern (I don't have the exact numbers) and my adjusted risk is 1 in 87. They fit me in for an appointment on Tuesday for either a CVS or early amnio. Are there other reasons the blood could be off? I am obviously very anxious. This is my first child, and feels like my only chance. The miscarriage was very difficult. I am not sure I could try it a third time. I have no idea what I will do if I test positive, and feel be impossible. I thank you for having this blog, and answering these questions.
At Mon Jun 30, 01:12:00 AM 2008,
Anonymous said…
Dear Dr T,
I am the anonymous June 12.A good news for me today: I took the genetic sonogram today and the result turned out to be all fine! So we r expecting a healthy baby girl in Nov!
Thank u so much for the professional advice from u! It is such a good blog that i feel really lucky that i could find it after being worried about the screening results!
At Fri Jul 04, 06:25:00 AM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To anonymous June 27: The risk is less than your age alone risk and is what it is - 1 in 87. That means 86 of 87 would be expected to NOT have Down syndrome based on the combined results. Remember, that riisk is calculated not just on the blood work, but the fetal measurements, your age, weight, etc. You do NOT have to opt for either invasive diagnostic test at this time unless you need to find out now. You could simply have a good genetic sonogram done at 18 weeks or so. If that is entirely 'normal', it would reduce the a priori risk based on the screening test (not your age) by as much as 90%. Best of luck and let us know how things turn out. Dr T
At Fri Jul 04, 06:25:00 AM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To anonymous June 30: Congratulations and best wishes for the rest of the pregnancy!
Dr T
At Wed Jul 09, 02:27:00 PM 2008,
Anonymous said…
I just received results from my screening, and I don't think I should be too worried, but the earliest I can get in to see the genetic couselor is in 2 weeks, hopefully you can help. My results were as follows.
Age 36 on June 25, babys age is 11w 5d at testing and results were:
cutoff:1 in 302
before:1 in 215
after:1 in 217 (she said because of my age.
Beta HCGmom: 1.62
Percentile:80
Papp-A mom: 0.47
Delta Nt: =.01
Should I be worried or need further testing?
Thanks,
Anna
At Sat Jul 12, 06:00:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Anna: The results are the same as your age-related risk and that is probably the consequence of the lower PAPP-A and the difference in MoM betwen that and the hCG. The final choice is yours, but I usually do not recommend CVS with those results and would offer you either an amniocentesis at 16 weeks or simply a good 'genetic sonogram' at 18-20 weeks with the option to proceed with an amnio if something abnormal is found at that time. A normal genetic sonogram will reduce your risk for Down syndrome by as much as 90%. In general, I would feel comforted by the screening test results at this point. Good luck! Dr T
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