Understanding Interpretation of First Trimester Screening Results

Tuesday, April 22, 2008

Kenneth F. Trofatter, Jr., MD, PhD

Based on the very large number of comments and questions I continue to receive related to the interpretation of the results of ‘combined first trimester screening for aneuploidy’, it is clear that there is a lot of confusion among both patients and providers alike regarding the meaning of the results and the contributions of the individual values to the actual ‘risk assessment’. My response to the two queries below may help to answer some of the questions readers may have related to this very valuable screening test…

• 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

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144 Comments:

At Thu Apr 24, 01:03:00 AM 2008, Anonymous said…

Dr.T
Dr.T, I am32 years old and I am 7 weeks pregnant. I have a 4 year old and on February 26th 2006 I had a still born. The autopsy found that it was due to Thrombosis of the umbilical cord. I was 38 weeks.After speaking with my doctor he said that the baby died because he moved and blocked the umbilical cord from providing him with oxygen. Since the accident I looked for answers, why did this happen to me? I found a different doctor where after a thrombo-phylia test he found that I am a carrier of mutant Homozygous of Factor XIII V34L.

I was loaded with Vitamin B complex and folic acid 5mg for two months. Now I am pregnant and 7 weeks. I am on Clexane injections 2000anti-xa IU/0.2ml on a daily basis and now on aspirin 75mg daily. The doctor wants to stop the injections and continue with aspiring until 16 weeks.

The doctor also suggested that I eat healthy and not take any extra pregnancy vitamins. I have had a lot of problems with my stomach after the still born (diarrheas’ and weakness) but I have been well and diarrhea free for a year now. I have been on prevacid in the past also for my stomach;

My concern is if this therapy has any site effects that can hurt me or my baby. And please let me know if there is anything else I need to do to make sure nothing goes wrong this time. My body went through a savior shock after the still born and I do not know what I would do if I experience the same again.
At Thu Apr 24, 05:04:00 PM 2008, Brendamng said…

Hi, today i had my second ultrasound and it was so unusual that i am now searching for answers. first let me give you some history, this is my 10th pregnancy. i have had 3 children one of whom died when he was 4 months old. I also have a bicournate uterus(full division). i had a miscarraige on 26th febuary,erpc was performed. found out i was expecting again 4 weeks later. i have extreme high bp. i had my first ultrasound 1 week ago. there was 2 sacs. sac one had a fetus with a strong heartbeat and sac two there was a flutter. sac 2 was measuring a week smaller than sac 1. dr did not think that twin 2 would develop but rescanned me today to make sure. sac 1 fetus growing fh strong. sac 2 had also grown but inside this sac there was 2 more sacs. no more fh were seen. dr said that she has never seen anything like this and has requested a follow up by someone specialising in early fetal accessment. do you have any idea what this could be? i am nearly 8 weeks. thank you
At Sat Apr 26, 11:55:00 AM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To brendamng: When an embryo is lost very early, the yolk sac will enlarge and "balloon". There is no live baby in that gestational sac. You have what is frequently termed a 'vanishing twin' and since it was lost so early, that baby was probably chromosomally abnormal. If the other baby is normal, there is a very good chance that you will go on and cary the pregnancy. Best wishes and let us know how things turn out. Dr T
At Sat Apr 26, 02:50:00 PM 2008, brendamng said…

thank you for your quick reply. I have an appointment for us on monday so hopeully i get the same answers. what arethe chances of the other baby being ok? i just ask because my son that passed away 3 years ago died suddenly. when born he was 615 grams. he was ill for along time, he never left the nicu of the hospital. he was on a vent for 11 weeks. when he died he had progresse really well. he was recieving nasal prong oxygen and was taking no meds. the hospital say it as a cot death. the coronor said that bpd was a factor in his death and 2nd that he had a severe metab olic disorder. the hospital claim thatthis was not the case. i do not want to do anything legal about his death but would like to protect myself and my kids for the future. i can neverbring my little boy bac but maybe his death was for a reason. thank you
At Tue Apr 29, 08:37:00 AM 2008, Anonymous said…

Dr. T,

I am 34 weeks pregnant and have had to have follow up ultrasounds because of a liver calcification that was seen at my 18 week scan. My original nuchal translucency screening test results were..
CRL- 68.5
NT- 2.2 mm
HCG mom-3.99
PAP-A mom- 0.92
The nasal bone was present and based on the blood test, NT measurement and my age the risk for down syndrome was 1 in 705. As I approach the end of my pregnancy I feel growing anxiety due to the need to have follow up scans which have only shown an isolated liver calcification . I am concerned about the high HCG level. I have had a level 2 ultrasound and 2 other follow up ultrasounds. Should I have any reason to be concerned at this point?

Thank you
At Wed Apr 30, 05:58:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To brendamng: You are welcome. I am sorry to hear about your other child and truly wish you the best with this pregnancy. Dr T
At Wed Apr 30, 06:06:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To anonymous Apr 29: In my experience, most isolated liver calcifications, in the presence of normal fetal growth and the absence of congenital malformations are not associated with long-term complications for the baby. I would suggest having your baby's urine screened for cytomegalovirus infection after delivery. I do not know of any relationship between elevated hCG in first trimester and hepatic calcifications either. Hopefully, your baby will do just fine, so please let us know how things turn out - especially if there are any problems. I learn from my readers too! Thanks for writing and best wishes. Dr T
At Wed Apr 30, 06:15:00 PM 2008, Anonymous said…

Is taking low doses of tylenol (such as infant tylenol) beneficial to the healing of the uterus lining? Or is that something that just has to heal own its own after time?
At Thu May 01, 10:06:00 AM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To anonymous Apr 30: No, I cannot imagine any beneficial effect of tylenol on the endometrium. An antiinflammatory agent (like ibuprofen) may help under certain circumstances, but it depends on what those circumstances are. Why do you ask? Dr T
At Thu May 01, 04:00:00 PM 2008, Anonymous said…

I read somewhere that taking low doses of tylenol could help in the healing process. I was just wondering how true it was. Of course, you can't believe everything you here. There was no explanation as to why they thought it was beneficial. Thank you for your professional input.
At Fri May 02, 08:13:00 AM 2008, Katie said…

Hi Dr. Trofatter,

Thank you so much for your blog - this is the only one I found on the web addressing these issues. I am 34 years old, this is my first pregnancy, and I had the tests done at 12.9 weeks.

NT = 2.0mm (1.18 MoM)
PAPP-A = 1.24 MoM
hCG = 3.18 MoM
Nasal bone = present

My risk was determined to be 1/140 for Downs and 1/10,000 for T18.

Unfortunately, due to my move from Hawaii to the states, I have not received this news until now (week 22 of pregnancy). I am wondering what your recommendation would be given that my window for terminating the pregnancy if the baby has Downs is very small.

Also, I had vaginal bleeding in my 1st trimester, could this have impacted why my hcG levels were so high? Why such a discrepancy between my hgc and other measurements?

Thank you so much!
Katie
At Thu May 08, 06:16:00 AM 2008, olga said…

Dear Dr Trofatter,

Could you please help me to interpret my contradictory first and second trimester screening results. I am 39. I got pregnant by IVF with my own eggs.
FTS 12 weeks result: NT: -.48, Nasal bone present, Down Syndrome 1:985
Second trimester screening 16 weeks
AFP-(MOM)1.1, HCG-(MOM)2.14, UE3-(MOM)0.58, INH-(MOM)2.32 - Down Syndrome 1:10
Ultrasound results are very good without any signs of abnormality.
I found some studies that reported a significant difference in the level of second trimester biochemical markers between IVF patients and spontaneous pregnancies (Wald et al., 1999b).
In DS screening in IVF pregnancies, hCG and uE3 values should be adjusted to avoid the high screen positive rate.

I prefer not to do amniocentesis.

Thank you so much!
At Fri May 09, 08:12:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Olga: You got trapped! With those first trimester results, I would not have recommended doing a 'quad screen.' But, you did and the decision is a lot tougher. Odds are that the baby is normal and that your real 'risk' falls somewhere between the two test results, perhaps because of the IVF as you point out, but I cannot tell you where that risk lies! If you use the second test, even with a normal ultrasound that reduces your risk by 90%, you still will be at 'increased risk'. The final decision is yours and none of us can tell you what is best under these circumstances. You could ask the laboratory to give you the risk using the COMBINATION of the two tests (an integrated risk assessment) and see if that helps. Best of luck to you and let us know how things turn out. Dr T
At Sat May 10, 07:03:00 AM 2008, olga said…

Thank you doctor for your helpful reply. I enjoy reading your blog.

I feel trapped in the situation and cannot ignore the numbers. Unfortunately, my OB did not volunteer information about the 'quad test' . I thought my blood was tested only for Neural Tube Defects.

My ultrasound doctor gave us combined approximated risk 1:100, which is still in 'increased risk' category. Now we are in a process of making a difficult decision about an amnio.

My husband and I are aware that an amniocenteses are relatively safe procedure but because we could not conceive for a long time I am afraid of hurting our baby.

Sincerely,

Olga
At Mon May 12, 07:03:00 PM 2008, hea1 said…

Dear Dr. T,

Wonderful blog! A couple questions following my first trimester results:

Age at delivery 37
NT 1.4 mm
HCG 2.23 MoM
PAPP-A .48 MoM
Mis-reported my weight by 35 pounds (?)
Three healthy normal prior pregnancies

I had a somewhat low progesterone levels at four weeks and was placed on 600 mg per day of Prometrium which I stopped at 10 weeks. I also have an egg sized cyst on my left ovary right now. Can these things cause an elevated HCG level? Also, can moving from sea level to 9,000 feet influence my PAPP-A levels? Haven't been in Colorado too long. I appreciate any advice you might have for me,

Thank you,

Worried in Colorado
At Tue May 13, 06:52:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

Olga, at a risk of 1 in 100, one option is to simply wait until you have a good 'genetic sonogram' done at 18-20 weeks. At that point, if there are any fetal abnormalities or significant 'soft markers' for Down syndrome, you will feel more comfortable about the decision to do the amnio and you could have a FISH study done at that time that will give you a result within 72 hours. Odds are in your favor that this baby is fine and this is a VERY important pregnancy (as all are) for you and your husband. Let us know how things turn out! Dr T
At Tue May 13, 08:50:00 PM 2008, ldattarm said…

Hi Dr. T:

Have gone through many of the threads and can't quite find a comparision for my results. I have also asked a number of questions, spent considerable time and the web and have not really gotten answers to my questions. Hoping that you can help to clarify.
I had the first trimester screen done and have the following stats:
CRL: 65.5mm
Gest Age: 12.7 weeks
NT: 1.2mm, 0.75 MoM
PAPP-A: 0.95 MoM
beta HCG: 1.46 MoM
Age: 44
Screen Risk: 1:135 Downs
Screen Risk: 1:10,000 Trisomy 18
Age Risk: 1:20 Downs
Age Risk: 1:70 Trisomy 18
Risk Cutoff: 1:50 Downs
Risk Cutoff: 1:100 Trisomy 18.

I understand the range that the for the NT scan (under 2mm) is good at 1.2mm, but I am not understanding how the blood work rates. Good, bad, ??? This was an IVF pregancy. Could you please help to explain if the blood was in a good range and what the overall intrepretation of the results should be? Thank you in advance for your insight. Lauri
At Wed May 14, 04:00:00 PM 2008, Anonymous said…

Dr T.
Thank you for your insightful comments. My wife and I have been trying for a baby for 4 years. After 2 failed IVF cycles (and three transfers), we decided to give it one final attempt. We opted to have PGD screening done, and a day 5 blastocyst transfer. Only one embryo from the harvested 12 passed the PGD screening, but it passed with flying colors, and we duly transferred it. We then received the fantastic news that we were pregnant, and not only that, but the embryo had split and we are to have twins (monchorionic/diamniotic)!
We just got the results of first trimester screening report, and results are concerning, and I’m hoping you can help discern them. The main question I have is the following:
Our excellent PGD results are not taken into account in the initial age related risk. Surely this should significantly reduce our initial and subsequently overall risk. Our genetics councellor and perinatal Dr. do agree with this point but have no idea how to quantify this risk reduction.
If our risk was above the 1:311 cutoff (which by the way seems completely arbitrary) we probably would not opt for an amnio, but now we don’t know what to do.
Thanks in advance

Gest Age: 13w0d
Free Beta hCG (MOM): 0.65
Maternal age at EDC: 38
PAPP-A MOM 0.24
NT Twin A: 1.7
NT Twin B: 2.4
Age Risk: 1:153 Downs
Screen Risk: 1:232 Downs
Cutoff Risk 1:311 Downs
At Wed May 14, 04:35:00 PM 2008, Anonymous said…

Dr T.
Thank you for your insightful comments. My wife and I have been trying for a baby for 4 years. After 2 failed IVF cycles (and three transfers), we decided to give it one final attempt. We opted to have PGD screening done, and a day 5 blastocyst transfer. Only one embryo from the harvested 12 passed the PGD screening, but it passed with flying colors, and we duly transferred it. We then received the fantastic news that we were pregnant, and not only that, but the embryo had split and we are to have twins (monchorionic/diamniotic)!
We just got the results of first trimester screening report, and results are concerning, and I’m hoping you can help discern them. The main question I have is the following:
Our excellent PGD results are not taken into account in the initial age related risk. Surely this should significantly reduce our initial and subsequently overall risk. Our genetics councellor and perinatal Dr. do agree with this point but have no idea how to quantify this risk reduction.
If our risk was above the 1:311 cutoff (which by the way seems completely arbitrary) we probably would not opt for an amnio, but now we don’t know what to do.
Thanks in advance

Gest Age: 13w0d
Free Beta hCG (MOM): 0.65
Maternal age at EDC: 38
PAPP-A MOM 0.24
NT Twin A: 1.7
NT Twin B: 2.4
Age Risk: 1:153 Downs
Screen Risk: 1:232 Downs
Cutoff Risk 1:311 Downs
At Thu May 15, 06:04:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Lauri May 13: At age 44, those are GREAT test results. I would not recommend anything else at this point except perhaps an AFP test (alone, not a "quad screen") at 16 weeks and a 'genetic sonogram' at 18-20 weeks. Relax! Odds are in your favor that the baby is just fine. Let us know how things turn out. Dr T
At Fri May 16, 02:28:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Worried in Colorado: You left out some important information for me! What was your combined risk assessment result? At your age and with the relatively high hCG and comparatively lower PAPP-A, I presume you were given an increased risk for trisomy 21. The first thing you might have your doctoors do is ask the lab to recalculate the result with the different weight. I don't know wheter that will make things better or worse at this point.

Anyway, the cyst should not affect your hCG levels. The move to Colorado is a question I cannot answer! Your body should adapt fairly quickly to the higher altitude, but there are lower oxygen levels...hmmm....great question, so why don't you ask an MFM specialist who lives in Colorado?!? There are some good ones there. Please let me know what you find out. Best wishes and thank you for reading! Dr T
At Fri May 16, 02:36:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To anonymous May 14: With what you have been through, my suggestion would be to NOT DO ANYTHING at this point. The babies must be identical, so they have the same chromosomal complements. Other things can cause slightly increased NTs in twins including cardiovascular malformations (which are more common in twins, even if they have identical chromosomes) and twin-to twin transfusion syndrome. If you don't have an MFM specialist, I suggest you find one! In your situation, I would offer you another sonogram at 16 weeks to reevaluate the fetal staus and growth (and get at least some sense of the normal aanatomy) and then again at 18-20 weeks. There is plenty of time to get an amnio if you feel like you have to for peace of mind. By the way, with your wife's history of infertility and the twin pregnancy, ask your doctors to evaluate your cervical length at that later ultraound as well. Infertility patients are at increased risk for cervical incompetence as well! Good luck, thanks for reading, and let me know what you find out! Dr T
At Fri May 16, 06:18:00 PM 2008, Margaret said…

Dear dr. Trofatter:

I agree that your blog is by far the most informative, especially for those of us who need more detailed information about our pregnancies.

I am 44 years old and 15 weeks pregnant. This is my second child. My daughter is 3 years and four months. I have been very lucky getting pregnant naturally, right when I have planned it. Unfortunately, I had two miscarriages. One at 8.5 weeks three months before my daughter was conceived and second at 10.5 weeks two months before beginning of this pregnancy.

My first pregnancy was a great experience without any problems ending with short labor and vaginal birth. This time, I was not so lucky. My CVS indicated that two out of 20 cells showed trisomy 2. The doctor who performed the CVS told me that it is most likely the case of placental mosaicism and that my baby should be fine. I have read all there is to be found on the Internet about the trisomy 2 and placental mosaicism. Medical journals tend to publish most extreme cases and this does not help in easing my anxiety. I am scheduled to have amnio on May 20th. I am terrifies that results will show that the baby has also been affected.

I would greatly appreciate any insight that you can give me about my case.

Thank you.
At Sat May 17, 06:55:00 AM 2008, Anonymous said…

DR.T
I am 40 years old and just had IVF treatment to achieve my first pregnancy. I had two screenings. The second screening was offered after i arranged a private one but has given me confusing results.
Combined test one:
At 11 weeks 5 days
CRL 60.3mm
NT 1.4 mm
Free Beta HCG is 3.2910
Maternal Serum PAPP-A is 2.0049
adjusted risk T21 1: 1341

Combined test two
At 12 weeks 4 days
CRL 72.7mm
NT 1.6mm
Free Deta HCG is 3.66
Maternal Serum PAPP_A is 2.12
adjusted risk T21 is 1:170

Other inf:
Nasal bone present on both scans and other anatomy checked as normal. Heart rate at 160 bpm
I was given a 1: 374 based on NT alone in test two.
Question:

There is such a big difference between these combined test 'risk' figures. Should i have an Amnio? I was feeling reassured and now I am very worried . I should not have done two tests to confuse things but the inconsistency in the blood result is making me feel concerned. Is this HCG really really high and the PAPP-A low?
I am not sure which factors were used to plug into the computer programme at the different labs ie did one lab factor in ivf and the other not?. Why does a week make such a big difference to the adjusted risk?
I would very much appreciate your help.
kind regards
JJ
At Mon May 19, 02:02:00 PM 2008, Anonymous said…

Hello,
I received the results of my First Screen for Down Syndrome and Trisomy 18.
Age at term: 40
NT:1.2mm
CRL: 50.4mm
Gest Age: 11.4wks
Results:
NT 0.92MoM
PAPP-A 0.74MoM
hCG 1.62MoM
Interpretation: Screen Positive - Increased Risk of Down Syndrome.

They suggested CVS. With this results should I do the CVS or wait for week 16 to do the Amnio?
Thank you. Adriana.
At Sun May 25, 03:56:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Margaret May 16: I am sorry that I did not see your comment before you had your amnio, but most trisomy 2 mosaicisms are isolated to the placenta as you were told. If your amnio indicates that there is a possibility that the baby has this as well, please write back and I will tell you my thoughts. Hope things went well with the amnio and we will be pulling for you. Dr T
At Sun May 25, 04:06:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To JJ May 17: I will never understand why folks have repeated tests by different providers and by different laboratories! Almost invaraibley they are put in the situation you have gotten yourself into! Both the hCG and the PAPP-A are on the high side, so it is probably unlikely the baby has Down syndrome. The elevations of both might be the consequence of your IVF therapy as well.

Personally, I would have gone with the results of the earlier test (and stopped) but since you didn't, the earlier the test is done in first trimester screening, the more reliable the serum markers tend to be. Your later increased risk is again being driven by the hCG (and your age), and this is because as pregnancy progresses, the hCG falls from its high in first trimester to a stable, much lower level. For most of my patients with even a 1 in 174 risk, I usually recommend waiting for a 'genetic sonogram' before making a final decision about having an amniocentesis, but that choice is yours. I bet everything will be fine. Why don't you let us know what you decide to do and how things turn out. Best wishes and thanks for reading! Dr T
At Sun May 25, 04:08:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Adriana May 19: You were "screen positive" but what was the actual risk for both Down syndrome and trisomy 18? The hCG is slightly elevated, but the other numbers look pretty good. Let me know and I will tell you what I think. Good luck! Dr T
At Wed May 28, 06:19:00 AM 2008, Anonymous said…

Dear Dr T
Thank you for your reply.I will have a detailed scan at 16 weeks. What level of reassurance will this give? I prefer to do the scan sooner rather than later. I wish to avoid amniocentesis due to repeated IVF. Thanks again for all your help. Best wishes and kind regards
JJ
At Wed May 28, 02:21:00 PM 2008, Anonymous said…

Dr. T,

I am 38. I had the FTS done at 12w4d with these results:

NTF: 1.3 mm
hCG: 1.4 MoM
PAPP-A: .57 MoM

My risk based on age was 1:126 and my screen risk is 1:303, which sounds pretty good to me, however the lab has a cut-off of 1:304 so they consider me a "screen positive" and have said I am increased risk for Down Syndrome (my T-18 numbers were fantastic). How concerned should I be? My OB says that the numbers look fine so it must've been my age that drove up my risk. That doesn't make sense though, because I know several 40+ year olds who had much lower risk than mine. There must be something in that bloodwork that doesn't look good. Could you tell me how those numbers look to you?

Thank you so much!
At Wed May 28, 05:10:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To JJ: If the scan is completely normal at 16 weeks, there is a very good chance the baby is too and I would put off thinking about the amnio! I would still recommend a 'level 2' or genetic sonogram at 19-20 weeks to look more carefully at the baby's anatomy so that if anything is suspicious at that point, you could still have the amnio performed. Good luck and let us know! Dr T
At Thu May 29, 02:27:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Anonymous May 28: Your risk is what it is - 1 in 303! That is pretty darn good. Just because the laboratory cut-off for calling someone "screen positive" is 1 in 304 does not mean your risk is any higher than what you have been gven. So, what you do from this point forward depends on whetehr you view the cup as 99.7% full or as 0.3% empty! Personally, I would not recommend anything else be done except a good ultrasound at 18-20 weeks! Good luck and please let us know how things turn out! Dr T
At Fri May 30, 06:19:00 PM 2008, Margaret said…

Dear Dr. Trofatter:

This is Margaret, 44years old with CVS trisomy 2 mosaicism diagnosis.
Thank you very much for you response and kind words. My amnio went well; it was a bit more painful than CVS. I have just received my results. Happily, the baby does not show any signs of trisomy 2. However, I was told that there is a theoretical possibility that, because of mosaicism, there may be some concerns as to the proper functioning of the placenta. I want to be as informed and proactive as I can to ensure that I and my baby get a proper care. During our initial discussion, my obstetrician said that monthly ultrasounds to monitor baby’s growth should be enough. I would greatly appreciate your input on how such case should be followed and if there is anything else that should be done.
Thank you again.

Margaret
At Tue Jun 03, 07:08:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Margaret: Simply following fetal growth, amniotic fluid, and Doppler flow studies every 3-4 weeks will usually pick up a problem related to placental insufficiency in time to monitot the baby more carefully. BTW, congratulations on the test results. Bet things turn out just fine. Dr T
At Tue Jun 10, 12:51:00 PM 2008, Anonymous said…

Dr. T.,

I am 40 years old and pregnant with my second child. I had my first trimester screen done with the following result:
NT - 1.4mm
DS Risk - 1:185
T 18 - 1:2500
I just received my second trimester triple screen results which showed:
DS Risk - 1:5900
T 18 - 1:10000
Based on the first result for DS, I was considering amnio (when pregnant at 38, my 1st trimester DS risk was 1:2900 so I was a bit surprised at 1:185). However, based on the second result, amnio doesn't seem necessary now. I have a level II ultrasound scheduled next week with a specialist (at 17 1/2 weeks gest). What would cause such a discrepancy between the results and if the level II ultrasound is ok, do you think amnio is justified based on the first trimester result?
At Wed Jun 11, 07:16:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To anonymous June 10: I would not recommend the amnio with those test results unless something abnormal is seen on the ultrasound. Both screening tests were very reassuring for your age and the risk of Down syndrme is VERY low. By the way, the tests measure different serum 'markers' and those markers change in concentration with gestational age. Best wishes! Dr T
At Thu Jun 12, 09:29:00 AM 2008, Anonymous said…

Dr T,

I just received the 2nd trimester screening . Here are the results

Age:32
Gest Age:17.1
HCG-MoM: 2.58
APF-MoM:1.21
DS Risk - 1:235 ( Cutoff Risk: 1:270)
T 18 Risk-1:20530( Cutoff Risk:1:100)

The Lab Suggest that i have inreased risk of DS.

I am a bit worried about this. Is my HCG very high? What should we do next?

Thank you!
At Sun Jun 15, 09:10:00 AM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To anonymous June 12: the hCG is above the 95th percentile, but there are other things that can cause a high hCG at this point as well. Your risk for Down syndrome is about that of a 35-36 year old woman, however, the odds are still in your favor the baby is perfectly normal. Your choices are to have an amniocentesis or to await a genetic sonogram at 18-20 weeks and base your amnio decison on those results. A normal ultrasound at that point reduces your a priori risk (based on the screening test, not your age) by at least 60-80%. The choice is entirely yours! Best wishes and let us know how things turn out. Dr T
At Tue Jun 24, 06:07:00 PM 2008, Heather said…

Dr. T - Thank you so much for your help in interpreting results! I am 40 years old, and 14 weeks pregnant via IVF. My screening results at 12w4d were:
NT = .7
betaHCG = .96 MoM
Papp A = .47 MoM
My age-related risk for DS was given as 1 in 58; post screen quoted risk of 1 in 142 for DS, 1 in 204 for trisomy 18.

I was told both the NT and beta HCG are very good - it is just the Papp A that is low. What percentile is my Papp A result? Could the low Papp A number have been caused/impacted by IVF?

We'd prefer not to do an amnio, but do want to make the right decision. At this point, I have a level II ultrasound scheduled for 16W5d - if things look normal on that ultrasound, would that reduce my risk even further?

Heather
At Thu Jun 26, 07:21:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Heather: Tjose are actually very reassuring results for a 40 year old woman. The PAPP-A is at about the 5th percentile, but the important thing in the risk assessment is the COMBINATION of factors. There are many other reasons for a low PAPP-A. In fact I have svereal other posts over the past year or so that address those. Chances are your baby will do just fine. A normal ultrasound will reduce your risk for trisomies 18/13 by at least 90% and for Down syndrome, at least 50-80%. Good luck and let us know how things turn out. Dr T
At Fri Jun 27, 10:31:00 PM 2008, Jmo said…

Dear Dr. Trofatter,

I just got the results of my first trimester screen, and now I am quite concerned. I had a miscarriage in November, and got pregnant again in April. The day of my test, 6/24, the gestational age was measured at 12 wks 5 days. I will be 39 when I deliver. The genetic counselor informed me that my age related risk was 1 in 65, which seems high. The Nuchal test went well, and the doctor was pleased, and felt with a good blood test result I could avoid amnio. However, the blood results came back as cause for concern (I don't have the exact numbers) and my adjusted risk is 1 in 87. They fit me in for an appointment on Tuesday for either a CVS or early amnio. Are there other reasons the blood could be off? I am obviously very anxious. This is my first child, and feels like my only chance. The miscarriage was very difficult. I am not sure I could try it a third time. I have no idea what I will do if I test positive, and feel be impossible. I thank you for having this blog, and answering these questions.
At Mon Jun 30, 01:12:00 AM 2008, Anonymous said…

Dear Dr T,

I am the anonymous June 12.A good news for me today: I took the genetic sonogram today and the result turned out to be all fine! So we r expecting a healthy baby girl in Nov!

Thank u so much for the professional advice from u! It is such a good blog that i feel really lucky that i could find it after being worried about the screening results!
At Fri Jul 04, 06:25:00 AM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To anonymous June 27: The risk is less than your age alone risk and is what it is - 1 in 87. That means 86 of 87 would be expected to NOT have Down syndrome based on the combined results. Remember, that riisk is calculated not just on the blood work, but the fetal measurements, your age, weight, etc. You do NOT have to opt for either invasive diagnostic test at this time unless you need to find out now. You could simply have a good genetic sonogram done at 18 weeks or so. If that is entirely 'normal', it would reduce the a priori risk based on the screening test (not your age) by as much as 90%. Best of luck and let us know how things turn out. Dr T
At Fri Jul 04, 06:25:00 AM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To anonymous June 30: Congratulations and best wishes for the rest of the pregnancy!
Dr T
At Wed Jul 09, 02:27:00 PM 2008, Anonymous said…

I just received results from my screening, and I don't think I should be too worried, but the earliest I can get in to see the genetic couselor is in 2 weeks, hopefully you can help. My results were as follows.

Age 36 on June 25, babys age is 11w 5d at testing and results were:
cutoff:1 in 302
before:1 in 215
after:1 in 217 (she said because of my age.
Beta HCGmom: 1.62
Percentile:80
Papp-A mom: 0.47
Delta Nt: =.01

Should I be worried or need further testing?

Thanks,
Anna
At Sat Jul 12, 06:00:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Anna: The results are the same as your age-related risk and that is probably the consequence of the lower PAPP-A and the difference in MoM betwen that and the hCG. The final choice is yours, but I usually do not recommend CVS with those results and would offer you either an amniocentesis at 16 weeks or simply a good 'genetic sonogram' at 18-20 weeks with the option to proceed with an amnio if something abnormal is found at that time. A normal genetic sonogram will reduce your risk for Down syndrome by as much as 90%. In general, I would feel comforted by the screening test results at this point. Good luck! Dr T
At Thu Jul 24, 09:10:00 AM 2008, margaret1111 said…

Dr. T,

Thank you for presenting this information in a manner that laypeople can comprehend, particularly at a time when most of us need clear and direct responses. I have seen nothing else like it on the web.

I am 39 and the result of my first trimester screen indicate a 1/59 chance of Down's. My NT was 1.3, free beta HcG 2.30 MoM, and Papp-A .63 MoM.

I have a 3 1/2 year old (healthy), followed by 2 miscarriages for unknown reasons, and then a diagnosis of infertility (unknown) which led to this IVF pregnancy (due mid-Jan).

We are scheduled for a 19-week ultrasound and cannot decide if we should have an amnio at that time. This is really our last chance at another child and we will not terminate this pregnancy, however the thought of the rest of the pregnancy being full of anxiety is very difficult.

Do the numbers I have presented give you any indication of what we should do about an amnio? I know you cannot direct us one way or another, but I have read much of your good advice to others who are on the fence and hope you can tip the scales for us.

Thank you so much.

Margaret
At Thu Jul 24, 02:44:00 PM 2008, Suzanne Teague said…

I have spent the last two weeks reading everything I could find on NT screening results. I found so much comfort and hope from your blog I wanted to share my story.

I had my NT screening at 13.3 weeks. I am 35 years old and will be 36 on delivery.

CRL: 77.1mm
NT: 3.1mm
Free beta: 2.14 MOM (90%)
PAPP-A: 0 .75 MOM (40%)
Trisomy 21: risk of 1:6 (1:243 by age alone)
Trisomy 13 & 18: risk of 1:9301 (1:466 by age alone)

I was scheduled for genetic counseling and an amnio. I had decided early I didn’t want an amnio but when faced with such a great risk I decided I would go ahead with it.

Yesterday we met the genetic counselor and she discussed a few things with us. She said their cut off for NT was 3mm and that the NT screening can have a false positive of 25% in women 35 years of age and older. These are 2 things I hadn’t really read about and that alone was hopeful. After we met with her we were given a level II ultrasound. The technician was really thorough and was able to tell us we were having a boy.

The doctor doing the amnio was very nice. She said that nothing on my ultrasound looked abnormal and that everything looked good. I still wanted the amnio so she prepped me and proceeded.

My husband and I opted in for the FISH results when we found out this lab could have them in 24 hours. We just found out our results about 1 hour ago. Our baby is negative for down syndrome. The FISH came back negative for the chromosomal abnormalities it checks for.

So there is HOPE!! I was scared to death and had prepared myself for the worst. I am a worse-case scenario type and well, hearing that I was having a healthy baby boy was euphoric.

Dr. Trofatter,
You do a major service to those of us pregnant and scared. I read article after article from your blog and the comments. You are an amazing man and I thank you from the bottom of my heart for the good you do.
-Suzanne
At Thu Jul 24, 02:55:00 PM 2008, margaret1111 said…

oops- free beta hcg was 2.39
At Fri Jul 25, 06:10:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Margaret: Your risk is being driven by your age and the relatively high hCG compared to the PAPP-A. The composite risk is only slightly higher than your age alone risk in first trimester for having a baby with Down syndrome. I cannot tell you what to do, but I have found that some folks do better with knowing their baby has Down syndrome, even if they plan to continue the pregnancy. It can be much better to be prepared and to have garnered information and support than to deal with the 'unexpected' at delivery. And, if you find out the baby does not have Down syndrome, your stress level for the rest of the pregnancy will be dramatically reduced. Best wishes and please let us know what you decide. Dr T
At Fri Jul 25, 06:12:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Suzanne: Thank YOU from the bottom of my heart for sharing your story and the kind words. Let us know when you have your son in your hands! Dr T
At Thu Aug 07, 10:38:00 AM 2008, Petar said…

Dr.T,

I am 32 years old and I'm at 16th week of my first pregnancy. I had FTS done at 12w4d with these results:
NTF: 1.03mm (0.64MoM)
fb-hCG: 7.97 corr MoM
PAPP-A: 1.41 corr MoM

double test risk 1:221
Biochem risk + NT 1:1214
age risk 1:602
trisomy 18 + NT risk < 1:10000

Doctor told me I had unusually high fb-hCG! And advised me to do amniocentesis.

I had small vaginal bleeding (brown spotting) in first months, and one huge bleeding
at 10th week (15 days before FTS)! Where I thought I lost my baby and since then I have to lie down most of the time.
I was given Progesterone (3 shots) and Pregnyl amp. for 10 days and I had to drink Dydrogesterone up to 14th week.
After massive bleeding I got two more shots of Pregnyl and Dydrogesterone pills.
(Bleeding stopped week ago)
Plus I have diagnosed placenta previa marginalis and haematoma retroplacentaris.

Afraid of amniocentesis risk, and not so afraid of child with down syndrome, I repeated expert
ultrasound 4 days later, and I repeated blood tests again (this time in different lab).
New results were:

NTF: 0.9mm (0.54MoM)
fb-hCG: 2.92 corr MoM
PAPP-A: 1.79 corr MoM
Combined risk 1:7456

Puzzled by different results of blood tests, I repeated blood test again :)
And 3 days later, last results were:

fb-hCG: 1.3 corr MoM
PAPP-A: 1.13 corr MoM

All doctors advise me to go to amniocentesis, but Im reluctant to do so because I'm afraid of miscarriage.
What do you think about my results?

Thank you
Gorana and Petar
At Thu Aug 07, 07:50:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Gorana and Petar: I think the abnormal hCG results could be the result of the placenta previa. However, you will have to base your decision regarding an amnio on the risk result you were given. By the way, if you have been bleeding, you ARE at greater risk for complications related to the amnio. You might want to factor that into your decision! Good luck. Dr T
At Tue Aug 12, 12:46:00 PM 2008, Anonymous said…

Dr T-

Thanks for your blog - it's a wonderful resource.

I am 36 years old and had a first trimester screen at 12 weeks (this is my 2nd pregnancy). My results came back increased risk of DS (1 in 64). My problem, or hang up really, is that the results were based on a fetal age of 13 weeks (based on the crown/rump measurement). The results were:

Free Beta HcG: 2.52 MoM
PAPP - A: .49 MoM
Delta NT: -0.08

I called the office where the procedure was done (different than my OBGYN)about the discrepancy with fetal age, and was told that "they feel comfortable using the measurement based fetal age." But in the same breath they told me that since my husband and I are both tall, our baby could fall on the "far side of the bell curve." Obviously I'm wondering what that means for our results. Our first child was large for his age, and at 3.5 weeks premature weighed in at 6lbs 9ozs and was 20 inches long.

Now, my husband and I are being encouraged to have an amnio. I don't want an invasive procedure, especially when I really don't know if I should have ANY confidence in the test results. I could use some advice.
At Sat Aug 16, 06:12:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To anonymous Aug 12: In most laboratories responsible for providing the final risk assessment result, the crown-rump length alone )not the staed gestational age) is used. Obviously this has some flaws, but since most babies, regardless of parental size, grow within a rather narrow range of variation in the first trimester, it was felt this is the most accurate way to use as the basis of the maternal serum marker and fetal NT results. Of course that doesn't help you, but since the final decision regarding an amnio, or simply waiting first for another ultrasound, is YOURS and yours alone, I suggest you base your decision on the 1 in 64 risk, your own risk tolerance, and your "gut" feelings. Best of luck and let us know how things turn out! Dr T
At Sun Aug 17, 10:00:00 PM 2008, Anonymous said…

Dr. T,

I received my 2nd Trimester Triple Screen results and was hoping you could be of some help.

Age at EDD: 37.2
AFP MoM: .59
hCG MoM: 1.68
uE3 MoM: 1.37

Not overweight, no diabetes, gestational age may be off a couple of days but no more (I think)

Risk: 1 in 75

I know that my AFP is pretty low, but what is confusing to me is that the uE3 is actually above 1.00. Isn't it supposed to be low as well when at risk for downs? Also, is my hCG really that high? Are there other things that can cause such a low AFP? I'm a total wreck about this and would appreciate any help. As of now, I have a level 2 u/s scheduled a week from tomorrow. Thank you so much. Michelle
At Tue Aug 19, 07:41:00 PM 2008, Anonymous said…

Dr. T.

I'm the "anonymous from 8/12". After a follow-up visit with my obgyn on Monday, my husband and I decided to go the non-invasive route, with the agreement that if further risk factors are indentified we will get an amnio for confirmation purposes. I feel more comfortable with this course of action. So, it's a waiting game for us...we'll let you know the outcome.
Thanks-
PMW
At Fri Aug 22, 05:18:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Michelle: Actually none of the values are that far "off", but the combination of the slightly increased hCG and the slightly decreased AFP, combined with your age, is doubling your "age alone" risk for Down syndrome in midtrimester. See what the ultrasound shows and then make your decision regarding an amniocentesis. That would anser the question once and for all and if it is normal, you will certainly sleep better the rest of the pregnancy! Best wishes. Dr T
At Fri Aug 22, 05:20:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To PMW: Thanks for letting me know and we certainly wish you the best. Dr T
At Mon Sep 01, 09:00:00 PM 2008, olucia12 said…

Dr. T,

I am 36 yrs old. Age at delivery 37. One healthy normal prior pregnancy.

I had the FTS done at 12w1d (GA by CRL) with these results:

NTF: 1.4 mm
Free Beta % 90
Free Beta MoM:2.02
PAPP-A%: 40
PAPP-A MoM: 0.8

Risk for DS based on maternal age alone is 1 in 179.
Risk for DS based on freeBeta, PAPP-A, NT and maternal age is 1 in 322, which is less than a 35 years old gravida's risk (at my gestational age) of 1 in 302.

Risk for Trisomy 18/13 only based on maternal ages is 1 in 317.
Risk for Trysome 18/17 based on freeBeta, PAPP-A, NT and maternal age is 1 in 6,321 which is less than trisomy 18/13 cut off risk of 1 in 150.

How concerned should I be? Could you tell me how those numbers look to you?

Thank you so much!

Olga
At Tue Sep 02, 01:34:00 PM 2008, Anonymous said…

Dear Dr T,

I am very glad to have come across your blog and I hope for your help. Your answers are very clear for a "normal" non-medical person.

I am 41 (age at delivery will be also 41), second pregnancy, 20 weeks now. First baby is fine and is nearly 2 now. Both pregnancies natural and very welcome after more than 10 years of infertility diagnosis.

I had 2 screenings

1st screening - 11weeks 4 days (Ultraspound age)
NT 1.2
HCGb MoM 0.74 corr MoM 1.1
PAPP-A MoM 0.61 corr MoM 0.99
SD risk (age only) 1:85
SD risk 1:260 - border risk
MoM limits (normal) 0.5-2.0

2nd screening - 17 weeks 6 days (ultrasound age)
HCGb MoM 2.01 corr MoM 2.50
AFP MoM 0.60 corr MoM 0.83
SD risk (age only) 1:85
SD risk 1:25 - high risk
MoM limits (normal) 0.5-2.0

Please advise your opinion as I am worried about such difference in risk accessment and high HCGb at second screening.

Many thanks, Lara
At Tue Sep 02, 04:54:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Olga: Sept 1: The numbers look pretty good to me because your Down's risk is less than half your age alone risk in first trimester. Many patients will simply opt for a level 2 ultrasound at 18-20 weeks under your circumstances. But, the question remains: How do the numbers look to YOU! Your decisions will have to be made based on your own comfort level and not on what I or anyone else tell you! Good luck and let us know how things turn out! Dr T
At Tue Sep 02, 04:59:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Lara: I tend to trust the first trimester screening and recommend that the second screening be done only if an "integrated" screening assessment is performed using the results from both tests. The reality is that your true screening risk probably lies somewhere between the two! Technically you were "screen positive" even with the first trimester assessment. Odds are good your baby is fine, but with that 1 in 25 looming over your head, you should give some serious thought to an amniocentesis. Please let us know what you do and what you find out! Dr T
At Wed Sep 03, 11:42:00 AM 2008, Anonymous said…

Dear Dr T - from Lara

Many thanks for your reply and confirmation of my research that the first trimestre screening is more trustworthy (for lack of better expression). I am hopeful that all will be fine, at the end of the day 1:25 is only 4% chance.
I have been soul searching with my first pregnancy when at the delivery age of 39 the DS risk was given as 1:98. But both my husband and I decided that after so many years of various procedures including unsuccessful IVF we were not prepared to terminate that long awaited pregnany (which happened naturally) in any case. So we did not opt for amnio and thank God we had our perfect baby boy. This time feeling is the same. Amnio will only tell us something but will not change our decision. So we feel that there is no point really.
Obviousy it is worrisome to have such a risk as 1:25 but we feel that this second baby is as much a gift from God as the first one and we will love him or her regardless!
We also feel optimistic as ultrasounds so far were good and we diceded to have an expert ultrasound at 21-22 weeks but that's it.
Many thanks again for your blog and your help to us - future mums. I will definitely let you know how it goes.
Lara
At Wed Sep 03, 06:47:00 PM 2008, Anonymous said…

I am Margaret 111 who wrote to you at the end of July with a 1/59 risk of Down's. Following your comments, we decided to go through with the amnio and I am so happy to say that everything came out wonderfully, and we will be having a girl in January! I can' thank you enough for both the information and the manner in which you convey it. Best of luck to all of you out there going through something similar.
At Mon Sep 22, 11:06:00 AM 2008, Anonymous said…

Dear Dr. T.,
I am relieved to have found your website! There is very little out there to help those of us in a difficult situation folloiwng first trimester screenings. I am 38 years old and have 2 healthy children. The results from my screening suggest a 1:25 chance of Down's Syndrome. I am 14 weeks and the amnio will be scheduled for some time between the 15 and 1/2 to 16 week mark. The thought of having to wait a couple of weeks for the test and then 10-14 days for the results is brutal! Somewhere in your blog, you mentioned FISH results. I am assuming this is preliminary results? If so, how accurate is it? Do all labs/doctors offer this? We are so saddened by all of this! Thanks for any help you can offer.
L.P.
At Wed Sep 24, 11:02:00 AM 2008, Anonymous said…

Dr. T.

I am 38 years old and just receied the results from my first trimenster screen My downs risk is 1/2641, but my Trisomy 18/13 is 1/759. I realize overall these are both"negative" results and I am happy about that. My question is what would cause the Trisomy risk to be three times higher than the Downs?

Thank you.
At Fri Sep 26, 06:43:00 AM 2008, Anonymous said…

Good morning, Dr. T.,

I am very nervous about the results of my first trimester screening. I have an amnio scheduled for next Friday and have requested the FISH results. I am hoping you could offer some insight.
NT 3.0 mm
hcg 1.03
papp-a .38
With the exception of the NT, everything appeared "normal" during the ultrasound (nasal bone, heart rate, etc....) I have had 2 normal pregnancies. My age at estimated delivery date will be 39 years and 1 month. Thank you for any advice or insight you might have to offer.
Sincerely,
LP
At Wed Oct 01, 09:06:00 PM 2008, Anonymous said…

Dr. T,
I am 45 years old and am miraculously 13 weeks pregnant via IVF without ICSI. This will be my first child. (My only previous pregnancy was an ectopic at age 44.)

My initial betas were very wobbly (80-70-87) and early ultrasounds measured a week behind my actual gestational age. Now the baby's CRL has caught up, and my beta zoomed to 339,000 @ 12 weeks. Medically, my body's reactions are idiosyncratic. I'm almost always an "outlier," especially on any test that relies on timing.

Is my very high beta in any way related to the hcG level for the triple screen? I had testing done Monday, and am awaiting lab results. The medical center I visited cannot test "free hcG," but only total hcG. Is this problematic?

And can you explain more about how the results are related to gestational age? I was tested at 12w5d. The baby's CRL measured 61, or 12w4d. Yet for the blood work they used a dating of 11w5d, based on my first ultrasound. Is this discrepancy likely to affect the result?

My NT measurement was 2.4. Is this measurement likely to increase or decrease over time?

Many thanks for your wonderful blog!
Rose
At Thu Oct 02, 07:07:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Lara Sept 3: Thank you for sharing your story and your feelings with us. I wish you the best for this and any other pregnancies you might have! Dr T
At Thu Oct 02, 07:09:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Margaret Sept 3: Well, CONGRATULATIONS. Other readers always appreciate it when someone lets us know the outcome to their 'trials'. Have fun with the baby and thank you for sharing your story! Dr T
At Thu Oct 02, 07:14:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To LP: Personally, I have never had a patient who had FISH who was told her baby had Down syndrome, trisomy 18 or 13, Turner syndrome, or any of the other chromosomal abnormalities routinely tested by FISH end up having a normal baby. I have had a handful of women who had no abnormality detected by FISH end up with a chromosomally abnormal baby on the final karyotype determination. I do not know the absolute numbers but the false positive rate must be less than 2-3% and the false negative rate is probably in the same range. Good luck to you and let us know what you find out. Dr T
At Thu Oct 02, 07:17:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To anonymous Sept 24: The different components of the first trimester screen have different weights in their prognostic values for Down syndrome vs trisomy 18. Your risk for either is VERY reassuring. The overwhelming odds are that you have a chromosomally normal baby. Best wishes for the rest of the pregnancy. Dr T
At Thu Oct 02, 07:20:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To LP: Your age, the NT measurement and the relatively low PAPP-A are driving your risk for Down syndrome. Your age alone risk is about 1 in 75, so the combined risk assessment is three-fold that. However, that does NOT absolutely mean your baby has Down syndrome, but it is certainly an appropriate indication for an amnio. Good luck and please let us know how things go. Dr T
At Wed Oct 08, 06:43:00 AM 2008, Anonymous said…

Dear Dr. T.,
I am L.P. from Sept. 26th. Thank you so much for your valuable insight! We had the amnio on Friday and the FISH results came back yesterday saying that the baby is fine! We are thrilled. I know that these are preliminary results, but it is such a relief. Hopefully the final results will not change anything!
Sincerely,
L.P.
At Wed Oct 08, 05:48:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Rose: Normally the hCG rises very rapidly during first trimester, doubling every 2-3 days, peaks at 9-10 weeks and then falls back to a more stable level by 20 weeks for the duration of the pregnancy. Elevated levels can occur as a range of "normal', with molar and partial molar pregnancies, with larger placentas and multiple gestations and with certain other conditions. It does NOT ncesessarily mean you baby has Down syndrome. Many labs use the total hCG rather than the fee beta-hCG so I am sure the lab your doctor uses has standardized tables in that regard. Most labs nowadays do not use the gestational age for the interpretation of the results, they use the crown-rump length of the baby. By the way, I have seen many instances in IVF pregnancies where the nmaternal serum markers are very difficult to interpret because of the hormonal therapy associated with IVF, so now is not the tine to panic. Incidentally, the NT measurement is fine. Best wishes for the pregnancy and keep us informed along the way! Dr T
At Tue Oct 14, 05:17:00 PM 2008, Anonymous said…

Dr. T,
I just had a first trimester nuchal test done: ultrasound and blood work. I don't know the exact numbers but was wondering if you could tell me what you think. The ultrasound looked good accoring to the technician. She said my measurement was within the normal range. Then today I got the blood work results and when my doctor called to share the results she said that according to my age 38 my risk for downs is 1:85 and my results were 1:175. She also said that there was a note that my number would "improve if my race had been identified." I'm not sure why my race caucasian wasn't included. Anyway, given the little information I'm able to provide should I be extremenly worried? With my other 2 children my numbers were always high 1:2000 and 1:485. Also can they recalculate once given my race? How much would my race improve it? Any thoughts appreciated.
At Sun Oct 19, 07:45:00 AM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To anonymous Oct 14: Your doctor should ask the lab to recalculate your risk with your race included. I cannot tell you off the top of my head how much that will improve the result. The risk assessment is not all that bad considering your age. Many women with those results will simply elect to have a 'targeted' ultrasound done at 18-20 weeks because if that is 'normal', your risk (using the screening test as your baseline risk) is reduced by at least 50%. As to why this is different form your other pregnancies - every pregnancy is different and you are older! Best wishes. I bet everything is fine! Dr T
At Mon Oct 20, 11:59:00 AM 2008, Jennifer said…

Thank you for answering all the questions on this page.. I have am concerned about the results. The doc says that the risk of downs and trisomy is very low but that the Free Beta MOM is really low and that can be an issue when it comes to miscariage or fetal growth issues. I have had no luck at all in finding any information about this and my OB has been no help in answering questions. If you have any advice I would appriciate it.
At Mon Oct 20, 12:01:00 PM 2008, Jennifer said…

Thank you for answering all the questions on this page.. I have am concerned about the results. The doc says that the risk of downs and trisomy is very low but that the Free Beta MOM is really low and that can be an issue when it comes to miscariage or fetal growth issues. I have had no luck at all in finding any information about this and my OB has been no help in answering questions. If you have any advice I would appriciate it.
At Tue Oct 21, 06:35:00 PM 2008, Anonymous said…

Dear Dr. T.,

I’m 34-years old and am 17 weeks, 5 days pregnant.

I had the AFP blood test performed and it came back positive for Down's Syndrome (1:130).

Yesterday, I had a detailed ultrasound performed and the measurements of the baby appeared to be normal. The genetic history of my husband and I are void of any syndromes, sequences, or abnormalities.

Am I still at a high risk for delivering a baby with Down's Syndrome? Also, should my husband and I consider having an amnio due to the possible high risk for Down’s? We are extremely concerned about complications that may arise with the amnio and any guidance would be greatly appreciated.

Thank you.
At Wed Oct 22, 06:50:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Jennifer Oct 20: I wrote a blog on that December 22, 2007. You can dig it out of my archives or copy and paste the following link: http://www.healthline.com/blogs/pregnancy_childbirth/2007/12/low-early-pregnancy-hormone-levels-hcg.html
Best wishes for the rest of the pregnancy and let us know how things turn out. Dr T
At Thu Oct 23, 07:54:00 PM 2008, Jennifer said…

Thanks for your response, I guess I should have been more specific, the low beta was detected at 10weeks 4 days with the blood work from the NT Scan, I had an ultrasound at 12 weeks and the baby was measuring fine, in fact ahead at 12 weeks 4 days. All of my beta numbers in the beginning were great and doubled nicely every two days. That is where the question comes in... Is the low Free Beta MOM percentile an issue I should be concerned with???
At Thu Oct 23, 08:02:00 PM 2008, Anonymous said…

Hello and thankyou

A relief reading your sane responses. Im so anxious at a time when i'd like to provide a calm and relaxed envorment for this growing baby. I've never come across such an inexact science, or been expected to make such big decions based on results no one seems able to clearly interpret or at least explain the logic of so i can create a context and make a good decision.

Im 38, & will be 39 and 4 months when i birth. I had a number terminations and a miscarriage when i was (much) younger, this is the first pregnancy ive carried. I had a first trimester ultratsound at 12weeks and received combined ultrasound / blood results yesterday:

heartbeat: 146 bpm
crown rump length: 54 mm
nasal bone length: 2.4 mm
All fetal anatomy was visible and appeared normal
cervix length was 38 mm
nuchal translucency 1.8mm

beta-hCG 2.8 MOM
ppA 2.3 MOM
nuchal translcency 1.3 MOM

trisomy 21 risk @ scan
maternal age risk 1/94
combined risk 1/300

trisomy 18 risk @ scan
maternal age risk 1/231
combined risk 1/11600

((they seemed to have estimated my weight at 68 kilos (no-one weighed me). I'd be 5 or so kilos less than that i suspect. dont know if this contributes to outcomes))

"this specimen has a calculated risk for Down Syndrome greater than or eaqul to the cut off of 1/300. we suggest this patient is offered amniocentesis"

And so Im booked in for the amnio on November 10th, and im feeling torn. Im also rhesus neg so will have to have the other needle too.

Not that the issue is the needles. the issue is the intrusive intervention. I would like to be able to justify it but i cant make sense of the formula or the results in a way that makes this possible.

The ultrasound was normal. My age related risk was reduced. Is it that the bloods are out of whack? And are they the dominant indicator?

Ive googled high and low. Im seeing a genetic counselor next Tuesday. Thankyou so much for any light youre able to shed
At Mon Oct 27, 08:44:00 PM 2008, A said…

Dr. T,
This is Rose from October 1. Thanks so much for your kind reply! As I’d expected, my very high total hcG level (primarily) quadrupled my risk of Down Syndrome, from my age-related risk of 1/19 to 1/5. (My screen was 1/900 for Trisomy 18, and a nasal bone was seen, though they don’t include that in the probabilities.)

My results were:
NT: 2.4 mm = 1.5 MoM
PAPP-A: .83 MoM
Total Beta: 3.60 MoM

My IVF center has continued to monitor quantitative hcG, which stayed high for a while, but have finally begun to fall: (12w: 339,000; 13w: 289,000; 14w: 329,000; 15w: 205,000; 16w: 146,000). I’d assumed that the high betas were a result of my body’s usual quirky reactions to changes and typical mis-timings. Could they be related to chromosomes, or the IVF procedure/meds, as you state above? What would be the usual “stable” level for hcG by around 20 weeks?

I’m nervous about my upcoming amnio. Do you recommend that your patients request the FISH results?

Many thanks!!
Rose
At Wed Oct 29, 06:28:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

Jennifer: It can be associated with pregnancy complications as detailed in the link I gave you. But it also may have absoluetly no consequences on the outcome of the pregnancy. All you can do is follow the growth of the baby and consider having Doppler flow studies done to determine if there is any gross abnormality of placentation that might lead to placental insufficiency problems. Dr T
At Wed Oct 29, 06:51:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To anonymous Oct 23: You have to ask yourself how you feel about the 1 in 300 risk. They might call the 'risk positive' but it is STILL just a 1 in 300 risk. A 'normal' ultrasound at 18-20 weeks would further reduce that risk by AT LEAST 50% (1 in 600 or LESS). The amnio is YOUR choice - NOT your doctor's. Because if you lose a baby as a result of the procedure, the odds are still it would be a normal baby. Best wishes. Dr T
At Fri Oct 31, 04:35:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To anonymous Oct 21: If everything looked completely normal on your targeted ultrasound, the risk of Down syndrome should be no worse than 1 in 260. That would still be considered 'risk positive' but the risk is still NO WORSE than 1 in 260 (i.e., 259/260 babies would be expected to be normal). The decison regarding an amnio is entirely yours as I have pointed out to countless readers. I do not know what I would do in your situation because I am NOT! Best wishes and let us know how things turn out. Dr T
At Mon Dec 01, 11:02:00 AM 2008, Anonymous said…

Dear Dr. T.
I am 39 years old and was told I have a 1 in 20 chance of my baby having down syndrome. My hcg level was 2.02 MoM, papp-a was 1.53 Mom, and the NT was 3.1mm. The baby measured from crown to rump 79mm. The heart beat is strong - 150 beats per minute. This is my fourth child. I am having amnio this week. Just wondering what your thoughts are on my test results. I am a basketcase.

Thanks.

Sincerely,
janet
At Fri Dec 12, 11:47:00 AM 2008, Anonymous said…

Dr. T,

My First Trimester Screening done at 13 weeks blood levels are alarmingly high:

PappA- 2.5
UE3- 4.1
HcG- 3.5

Neck Measurement- 2.2

My age: 36, 37 @due date

The risk for DS went from 1/250 to 1/42. My amnio is scheduled for the day of my 15th week.

Have you ever seen blood levels so high at 1st trimester? If not DS, what could it indicate? Please help you have seen so much! Mumma K
At Wed Dec 17, 05:41:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Rose: I am sorry, but I just received your comment from Oct 27 this week in my mailbox. The 'blogger' has had 'technical difficulties' lately. hCG levels usually stabilize in the range of 10-20000 units by 20 weeks or about 10-20% of the peak levels reached at the end of first trimester. With regard to the FISH, my only comment would be , "How fast do you need to know something?" FISH will often give you an answer regarding common chromosomal abnormalities in about 72 hours. And, most of the time, the answer you get with FISH ends up being the final diagnosis - but, not always. Anyway, as is always the case in circumstances such as yours, I hope everything turned out okay. Please let us know if you find your way back to this site and get this response. Best wishes! Dr T
At Fri Dec 26, 07:01:00 AM 2008, Anonymous said…

Dr T,

I want to thank you in advance for taking time to answer my question.

I will be 34 years old when I deliver my baby. This is my first baby.

My Ultra-screen first trimester screening results:

Mat. weight: 115
Ethnicity: Aisan
NT(mm): 1.7
CRL(mm): 50.4
GA@U/S: 11w4d
Free beta hCG(MOM):1.6 (percentiles 80)
PAPP-A MOM: 0.58 (percentiles 20)
Detla NT: +0.37
Nasal bone: present

Down syndrome 1st trimester cut off: 1 in 296
Down syndrome before screening: 1 in 337
Down syndrome after screening: 1 in 1201

The technician and my OB told me that I have low risk. But I am still very worried. Why other women at my age would have a result of 1 in 3000?

Thank you,
Joy
At Mon Dec 29, 06:14:00 PM 2008, Anonymous said…

Hi Dr Trofatter. I hope you are around at the festive season to answer my questions. I have a healthy 2 yr old boy. This is my second pregnancy conceived naturally. I had some nausea with my first pregnancy but absolutely none with this one. I am 36 yrs old.

I had an amnio on Dec 24th based on the following results:

25-Nov 1st trimester screening: Blood test and scan done on same day.
CRL = 45.0mm
NT = 0.9mm
B-hcg = 11.4 IU/L ~ 0.215 MoM
PAPP-A = 0.090 IU/L ~ 0.150 MoM
LMP dating: 12wk4d
Scan dating: 11wk
Overall risk: 1:201 DOwns and 1:45 Trisomy 18/13

I also had an earlier blood test done on 14 Nov.
B-hcg 13.31 IU/L
PAPP-A 0.05 IU/L

I was informed at the time of the amnio that my risk was predominantly that I will miscarry with such low hcg levels. And that these levels also crossed over into showing a risk of genetic abnormality. Hence the amnio was recommended. The amnio procedure went well but I am still waiting for results from the genetic analysis. At the amnio the baby had a heartbeat and had grown since the scan at 11 wks.

Genetic abnormality has become my secondary concern now, as I have been told to prepare for the worst - that I will most likely miscarry. Is it still possible to carry a pregnancy through to term with this low level of hcg? If this happens are there other complications that could reuslts from low hcg? How severe are these complications, if any? Is there anything I can do to prevent a miscarriage?
I am now 16 wks according to the scan dating.

Thanks
Judy
At Wed Dec 31, 08:28:00 AM 2008, Anonymous said…

Hi Dr. T,
I'm hoping you can help me out. I just got off the phone with my doctor's office and need help in clarifying my results of 1st trimester screening. Here are my results:
Maternal Age at EDD: 29.5
Weight: 173
Race: Caucasian
Gestational age at collection date: 12.1 weeks
Nuchal Translucency: 1.2 mm (.81MoM)
Hcg Value 46.6 IU/mL (.64 MoM)
PAPP-A Value: 1.14 mIU/mL (.83 MoM)

The lab work lists Trisomy 18Screening risk at <1/10,000
and the age risk at 1/3130 and the Trisomy 21 Screening Risk at <1/10,000 and Age risk at 1/804.

The office told me that the 1/10000 numbers were my baseline risk based on my age alone and that the higher risk numbers were my risk based on the blood work and NT scan. This seems backwards to me the way its listed on the lab work that I have in front of me. Can you shed some light on this for me? Thanks.

Jen
At Thu Jan 08, 04:17:00 PM 2009, Shan said…

Hi many thanks for having this information available.
I am currently 14 weeks pregnant with number 2. We had an amnio with Jakson at 16 weeks as we had a 1:252 chance of trisomy 21 and it was recommended to us. He is happy and healthy.
Now with this bub my nuchal results are as follows
NT 1.3mm
Free BHCG .356MoM
PAPP-A .223MoM
Risk for trisomy 21 is 1:2033
Risk for trisomy 13,18 is 1:242
I am obviously very concerned about this figure and can't stop thinking about it. My doctor isn't too worried and suggested against an amnio and just have a detailed scan at 18 weeks.
Are both the blood results decreased? Is there any other reasons for this to occur with a normal bub?
I had 2 miscarriages before falling pregnant with this bub and the last one beinf 4 weeks before I fall with this one. I also have factor v leiden and am taking clexane daily. Could any of this play part in the results being decreased?
Many thanks in advance
Shannon
At Thu Jan 08, 07:08:00 PM 2009, Anonymous said…

Dr T,

We just got our FTS results which look good (1 in 2001 risk of Down Syndrome and 1 in 3661 of Trisomy 18/12). I am 39 years old.

I am trying to understand what are the chances that it is a "false-negative". I hear that FTS will not catch one of out of five (20%). Presumably false negative is with a cut-off of 1 in 300. Are there any studies available how the false negatives change if cut-off is changed - say 1 in 1000 or 1 in 2000.

It would appear to me that the chances of False negative are lower if a lower cutoff (i.e 1 in 1000 is used).

Detailed breakdown is as follows;

Free Beta hCG(MOM) 0.97 - 50 percentile
PAPP-A MOM: 1.57 70 percentile.
Delta NT: -0.16 (1.47 mm actual measurement).
At Tue Jan 13, 09:38:00 AM 2009, calinden44 said…

DR T,
I AM 33 YEARS OLD AND 14 WEEKS PREGNANT. I HAD A 5 DAY BLASTOCYST TRANSFER W/ NO PROBLEMS. AT THE FIRST TRIMESTER SCREENING THESE WERE THE RESULTS:
FREE BETA HCG (MOM) - .70
PAPP-A (MOM) - .65
NT - 2.9
DOWN SYNDROME RISK WENT FROM 1 IN 372 TO 1 IN 277.
TRISOMY 18/13 WENT FROM 1 IN 701 TO 1 IN 1924.
ALSO I AM CONCERNED ABOUT THE MEASURMENTS - MOSTLY THE FEMUR LENGTH:
BPD - 23.7 GA - 14W
HC - 87.5 GA - 13W6D
AC - 77.3 GA - 14W1D
FL - 10.2 - 13W
THIS SCAN WAS DONE AT 12W6D, AND IT SEEMS AS IF THE FEMUR LENGTH IS QUITE SHORT TO ME. CAN THIS CATCH UP, AND ALL THINGS COMBINED, DO YOU SEE ME BEING AT RISK FOR DOWN SYNDROME OR OTHER CHROMOSOMAL ABNORMALITIES.

I AM NERVOUS AS I HAD VERY BAD HELLP SYNDROME 2 YEARS AGO WITH MY DAUGHTER AND DELIVERED AT 30 WEEKS.

COULD THESE MARKERS BE INDICATIVE OF A REPEAT?? OUR PERINATOLOGIST DID NOT REALLY ADDRESS IT, BUT I AM CRAZY WITH WORRY.

AM TAKING EXTRA FOLIC ACID, VITAMIN B, BABY ASPIRIN AND CALCIUM.

THANKS SO MUCH,
CALINDEN44
At Wed Jan 21, 12:02:00 PM 2009, anne said…

Hi Dr. Trofatter,
I'm so glad I've run across your informative blog! Thank you for your insight and reassurance for those of us going through these screenings. I have concerns about my first-trimester ultrasound results and hope you can help interpret the results for me.

My stats:
Age at Term: 32
Weight: 130 lbs
Caucasian

Singleton
CRL: 56.9mm
GA: 12w1d

Free beta hCG: 97.4% > 2.74 MOM
PAPP-A 20% > .53 MOM
NT 1.3mm

Overall risk asessment:
Trisomy 21: 1 in 153 (before screening it was 1 in 473)

I'm concerned and curious about my extremely high levels of hCG. Are there other causes for these high levels?

Thanks for your insight-
Anne
At Wed Jan 21, 12:36:00 PM 2009, Anonymous said…

Dear Dr T,

This is Lara from September, 02
Just a quick update. A week ago I had a healthy baby girl, 3.55 kg, 53 cm. She is perfect and absolutely gorgeous!
Just a bit of history after my writing to you.
Your words confirmed my conclusions after my research and it felt much better! We did not do amnio - I wrote about our reasons, but at 22 weeks we had an expert US which showed no problems. We left bad thoughts outside our heads and I continued enjoying my pregnancy! The result - a small bundle of joy which is adored by everyone and especially by her 2 year old brother!
Thank you for your blog and your help!!! All the best!
Lara
At Sun Feb 08, 07:39:00 AM 2009, Anonymous said…

I am 28 and at 12w 1d I had the 1st trimester screening test. The Dr. called and said that I have 1 in 491 chance for downs syndrome. The Dr. said he recommends the amnio. My husband and I don't know what to do and we are very scared about the results. Thank you in advance for any assistance you can provide us.

FREE BETA% 70
MOM 1.43
PAPP-A .5
PAPP-A MOM .19
NT 1.3
NB PRESENT
At Wed Feb 18, 05:48:00 PM 2009, Anonymous said…

DR. T,
I am 36 years old and will be 37 at time of delivery. I recently had my first trimester screening. During the ultrasound they had a secondary finding, the doctor labled them as fetal neck cysts.He said that there is a correlation with these cysts and some increased chance for chromosomal abnormalities? I just recieved my bloodwork results and my numbers for Down's was 1/787 and trisomy 18 1/10,000, and the NT was what they considered normal. They still advised me to do an amnio. I can't really find alot of info regarding these lateral neck cysts, is there any other problems/complications i should be aware of? Can these cysts resorb? I would appreciate any info you may have. Thank you so much for your time. Kristin
At Mon Feb 23, 04:19:00 PM 2009, Anonymous said…

Dr. T
I am a 36 year old caucasion. I received my first trimester screening results which were done at 12 weeks and I am very concerned. My results were as follows:

NT 1.1
Nasal bone-visible
fbHCG .25
PAP-A .51
trisomy 13/18 risk 1/133

Both levels are very low which concerns me. I did, however, notice that some labs consider 1/100 to be the risk cutoff, and others 1/150. Can you shed any light on this for me? I will go next Monday for my level 2 ultrasound and will need to decide whether I want to do the amnio that day as well. I will be 16 weeks.
Thanks,
Shannon
At Mon Mar 02, 03:46:00 AM 2009, Deepa said…

Dr.Trofatter,

I am 32 yrs old and presently 16 weeks pregnant( for the first time). I took first trimester screening test during 13th week of pregnancy,
test results are as follows:

CRL = 59.8 mm
NT = 2.0 mm
Nasal Bone = seen

Free Beta hCG = 1.014 MoM
PAPP-A = 3.166 MoM

Risk for
Trisomy 21 = 1:8090
Trisomy 18 = 1:22613
Trisomy 13 = 1:68796

I was told that my has low risk for Down's syndrome, but I want to know if the hCG and PAPP-A levels are within the normal range.

Please advice me regarding how to interpret the maternal serum markers.

Deepa
At Mon Mar 30, 10:11:00 AM 2009, enviro said…

Dr. T,

I am 31 and just received the results from my 1st term prenatal screen. I was 12 weeks and 1 day at time of screen here are my numbers:

Free Beta MoM:1.7
PAPP-A MoM:.26

Also, I do have gestational diabetes. The screen gives my DS risk as 1 in 135. Can you please help me understand the PAPP-A and Free Beta numbers.

Thank you,
Amanda
At Mon Mar 30, 10:13:00 AM 2009, enviro said…

Dr T,
I forgot to include that the NT was 1.2.

Thanks again,
Amanda
At Wed Apr 08, 11:47:00 PM 2009, Anonymous said…

Dr. T,
I am a 38 year old black woman with a 3 year old. This is my second pregnancy and I've just received the results of my first trimester screening.

Age Risk for Down Syndrome 1:96
MSS Down Syndrome Risk 1:188
Cut-Off 1:270
Risk for Trisomy 1:5,000
Cut Off 1:100
Calculated Gestational Age 12.1
PAPP-A 2.1 mIU/mL
PAPP-A MoM 1.04
H hCG 444.0 mcg/L
H hCG MoM 2.48
NT MoM 0.55
Crown Rump 57.0 mm
NT 0.82 mm

My husband and I are considering whether additional testing is what we even want. My concern is that age is the main reason for the "Screen Positive". It would help to know what the other numbers mean or if they are in "normal" range.

Thanks for your help!!!
Elaine
At Tue Apr 21, 07:36:00 AM 2009, Katti said…

Hi Dr T, I am 37 years old and 14 week pregnant. I will be 38 at the time of delivery. This is my first pregnancy and a result of an IVF plus ICSI. I started out with twin pregnancy and both fetuses had heart beats at 8 weeks but one twin was one week behind the schedule and eventually lost its heart beats on US at 10 weeks. My first trimester screening result is as following:
Mat weight 150, Caucasian (Persian), CRL 68, GA @ US 12w6d, GA@ Draw 12w6d(CRL)
NT 1.7
Free BhCG (MOM ) 0.76, percentiles 30
PAPP-A (MOM) 0.85, percentiles 40
Delta NT +0.03, nasal bone present
DS cut off 1/310, before screening 1/153, after screening 1/3041
Trisomy 18/13 cut off 1/150, before screening 1/283, after screening 1/5641
I understand these risk rates for two major chromosomal abnormalities are pretty low for my age, however it has been said that IVF and recent vanishing twin can both change the risk assessment, and ICSI can slightly increase the sex chromosomal abnormalities.
I am currently undecided regarding having an amniocentesis, given above concerns. I would like to know any chromosomal abnormality of my fetus, however I am concerned about the fetal loss/harm related to amniocentesis, given my precious pregnancy. Should I take the risk of invasive procedure, although it is low? What would you do if you were me?
At Fri May 15, 10:42:00 AM 2009, Anonymous said…

Dr.T,
Could you please take a look at my screening results and let me know what you think? This is my 3rd child and I'm concerned because I already have a child with Down Syndrome (2nd child). My NT measurement is fine and my recent ultrasound shows nothing wrong with the baby.

Age at term: 39
1st screening done at 13.3 wks
HCG 2.14 MoM
PAPPA 1.31 MoM
NT measurement 1.6 mm

2nd screening done at 16.4 wks
HCG 2.29 MoM
Inhibin 1.44 MoM
UE3 0.63 MoM
AFP 1.12 MoM

My risk was determined to be 1/140 for Downs and 1/10,000 for T18.

Cris
At Fri May 15, 11:03:00 AM 2009, Anonymous said…

Dr. T,
I am concerned with my test result because I already have a daughter (2nd child) with DS. I am most concerned with my HCG level. Can normal babies have high HCG levels?

Age at Term: 39
1st screening at 13.3 wks
HCG 2.14 MoM
PAPPA 1.31 MoM
Cut off was at 1/100, my risk was 1/170.
NT measurement 1.6 mm

2nd screening at 16.4 wks
HCG 2.29 MoM
Inhibin 1.44 MoM
UE3 0.63 MoM
AFP 1.12 MoM

My final risk shows 1/140 for DS and 1/10,000 for TS18.
My recent 2D ultrasound couldn't detect anything wrong with the baby.
At Mon May 18, 09:17:00 PM 2009, Anonymous said…

Hi Dr. Trofatter,
I underwent my First Trimester Screening and would appreciate if you can help me to interpret or understand the result:

Age: 32,
Non-smoker,
Non-Drinker
One mis-carriage previously,
Current baby conceived via IVF
Gestational Age: 12 weeks 1 days
Crown-Rump Length (CRL): 56.8mm
Nuchal Translucency (NT): 2.4mm
Nasal Bone: Seen
Free Beta-hCG: 1.145 MoM
PAPP-A: .372 MoM
Triscomy 21 Risk: 1:29

I was told the result is not good as the NT scan and hcg/papp-a all tend to a higher side.

I was recommended to go for CVS to confirm.

1. Can you advise me what is the acceptable range/level for CRL, NT, Free Beta-hCG and PAPP-A? I heard people talking about percentile, so what is my percentile based on the result?

2. Is the result an indication of high-risk to my baby?

3. Will IVF produce a false-positive reading?

4. To stabilize my pregnancy, I was prescribe with Progesterone. Will the medication affect my blood-test or scan?

Any advise is greatly appreciated as I am very depressed by the result. Thks.
At Tue Jul 07, 11:21:00 PM 2009, Singapore Mother said…

Dear Dr. T,

I am 39 years old. The results of my test are as follow:

@ 12 weeks + 0 days

Crown-rump length (CRL) 56.1mm
Nuchal translucency (NT) 1.4mm

Maternal Serum Biochemistry
Free B-hcg 129.4 IU/I = 1.993 MoM
PAPP-A 0.557 IU/I = 0.578 MoM

Trisomy 21
1:122 (Background risk)
1:612 Adjusted risk (US)
1:47 Adjusted risk (BC)
1:292 (Adjusted risk)

Trisomy 18
1:289 (Background risk)
1:876 Adjusted risk (US)
1:2084 Adjusted risk (BC)
1:5780 (Adjusted risk)

Trisomy 13
1:909 (Background risk)
1:3637 Adjusted risk (US)
1:2623 Adjusted risk (BC)
1:12060 (Adjusted risk)

Kindly please shed some light... Thank you so much!
At Thu Jul 09, 05:47:00 PM 2009, Kenneth F. Trofatter, Jr., MD, PhD said…

To Singapore Mother July 7: Personally, I think it is VERY confusing and unfair to present the data to patients in this way. The strength of the first trimester screening is in the COMPOSITE results and NOT the individual tests - and yet you were given the risk assessment based on those individual tests. All that can do is make you worry and any laboratory that does this should be banned from first trimester screening because they are presenting 'data' out of both sides of their mouths without adequate counseling to the patients or realistic expectations as to what balanced information most providers can offer! Albeit, this is just my opinion. The long and short of your results are that you have a 1 in 292 risk of Down syndrome which is less than half your age alone risk. Some laboratories will still report this as "screen positive" because it falls below there cut off, but that also means your baby has a 291 out of 292 chance of being chromosomally normal. If the odds still worry you, then you can have either a genetic amniocentesis done or simply have an expert sonogram done at 18-20 weeks. If the lattr is 'normal' your a priori risk is reduced by at least another 50%. Best wishes and let us know how things turn out.
Dr T
At Tue Jul 14, 02:05:00 PM 2009, Finny said…

Hi Dr. T, I am 33 years old and 13 weeks pg, It took us over 3 years and 2 IVFs to get pg. I got my prescreening results back
Downs 1 out of 568
trisomy 18 1 out of 9,000. My doctor doesn't think it is necessary to get an amnio and i dont really want one due to the risk. What would you do? It seems like the risk of miscarriage is higher then the risk of downs. I have an appt with a genetic counselor but would love your opinion. Thanks
At Sat Jul 18, 12:51:00 PM 2009, servatus said…

Dr. T

We had our NT scan at 13w 4 days. Nasal bone present and very visible, but NT was 3.1mm. Crown to Rump length was 7.09cm. Blood work came back slightly elevated HCG. Wife is 29 and we were given 1/14 for Downs. They have moved our due date before by 5 days. 150 heartrate. How sensitive are these tests in terms of how fast baby grows and time of test. Could it just be a bigger baby, or should the test have been preformed a week or two earlier? This is our first child and I am trying not to panic.

Matt
At Tue Aug 11, 03:06:00 PM 2009, Anonymous said…

Dr. T.

I am a 35 yr and I had my first trimester ultrasound done. Here are the results:
gest. age: 12 weks + 3 days
CRL: 61.0 mm
NT 1.88
Maternal Serum Biochemistry
Free Beta-hCG equiv. to 1.476 MoM
PAPP-A equiv to 0.429MoM
Trisomy 21
Background Risk 1:328
Adjusted risk (US) 1:1377
Adjusted risk (BC) 1:67
Adjusted risk 1:277
I have a positive screen for Trisomy 21. The screening cut-off is an at-term risk of 1:300.

The genetic counsellor doesn't tell me what to do insofar as amneo testing is concerned and I really don't know what to think. I'm obviously quite concerned for having tested positive and I don't know what I should do. The counsellor said that a level II doesn't eliminate all possibility of Trisomy 21. I would greatly appreciate your feedback. Thanks, Canada
At Wed Aug 12, 06:34:00 PM 2009, Kenneth F. Trofatter, Jr., MD, PhD said…

Finny: Those are excellent screening results with the risk less than your age alone risk for Down syndrome in first trimester, With what you have been through, and the risks of amniocentesis (albeit small), I would not recommend an amnio. But the final choice has to be yours! Best of luck.
Dr T
At Wed Aug 12, 06:38:00 PM 2009, Kenneth F. Trofatter, Jr., MD, PhD said…

To servatus: Interpretation of the hCG and PAPP-A results are based on the size (crown-rump length) of the baby and NOT the actual gestational age. With that NT and an elevated hCG, you have to decide if a 1 in 14 risk makes you want to find out for sure whether or not your baby has Down syndrome before he/she is born. That is a very high risk estimate and 20 to 50 times the risk of an amniocentesis. Best of luck.
Dr T
At Wed Aug 12, 06:42:00 PM 2009, Kenneth F. Trofatter, Jr., MD, PhD said…

To Canada Aug 11: You are "screen positive" but the risk is still just 1 in 277 (which is not that much different from your age alone risk in first trimester). A level 2 ultrasound can reduce that risk by at least 60-80% if it is reassuring (i.e., to 1 in 600 or less). Nothing is 100% in this business. The question is how those numbers strike YOU (not what me or anyone else says) and how badly you need to know before the baby is born! Good luck.
Dr T
At Fri Aug 14, 02:30:00 AM 2009, Anonymous said…

Hello Dr.T,
Thank you for your Q&A blog.
I am 37 yo; first pregnancy. I had my First Trimester screening done on 7/20/09. At that time, I thought I was 12w5d (per my OB-GYN). My screen came back positive with the following results:

NT: 1.4 mm
CRL: 45mm
Gest Age: 11 wks
# of fetuses: 1
Wt: 150#
Age at Term: 37.9
IDMM: No
DS Dx: No
Race: not given (I am asian)

MoM NT 1.27 PAPP-A 0.27 hCG 1.09
screening risk
down syndrome 1:18
age related risk 1:100
risk cutoff 1:50

trisomy 18 -- 1:140
age related risk 1:350
risk cut off 1:100

Today (8/13/09), I went to do my amnio, but the tech asked why I was doing it so early. I thought I was 16w1d, but she said according to the previous measurements, I am 14w5d, and she confirmed it with measurements from today's ultrasound. They recommended I wait until I am 16 weeks, so I am returning in two weeks when I am due for the 2nd part of the sequential screening.

I know the results of the first trimester screening are probably inaccurate now that my due date is moved down by 10 days. Based on today's estimate, when I did my 1st trimester screen, I was 11w2d. I know they plug all these numbers into a computer and come up with the risk.

I've been reading that the NT space would be larger if you do it too early, so would that mean since I did it early than they thought they were doing it, does that make my # look better? Based on all the stuff I've been reading, I know my risk is increased by age, but it looks like my PAPP-A was low as well.

My questions are:
-- because the test was done earlier than they thought, does that make my risk numbers look better or worse?
-- Does PAPP-A typically increase as your pregnancy goes along?

Thank You for all your help. I was just hoping to get my amnio results asap, but now I have to wait another two weeks to get the amnio done!

-wendy-
At Wed Aug 26, 09:48:00 AM 2009, Anonymous said…

Dr. T,

I’ve read your blog and I can see how helpful you’ve been in interpreting results. I’m hoping you can provide answers to my questions.

I’m trying to decide whether I should get a first trimester screen. My husband and I are very eager to know whether the fetus is affected with Down’s. I’ve done a lot of research and the accuracy of the first trimester screen is appealing, especially when conducted in the 11th week. But right now I’m having trouble reconciling the 85% detection rate and 5% false positive rate with the fact that results are given as a probability. I’m guessing that the 85% detection rate means that 85% of women carrying an affected fetus will screen positive. But I’m having trouble with the 5% false positive rate. More specifically, if a 1/300 probability is a positive screen, then won’t 299/300 (99.7%) women who screen positive still have an unaffected baby? What does the 5% mean?

I’m currently 35 and will be 36 at the time of delivery. I estimate that my age related risk is somewhere between 1/200 and 1/250 – so should I expect a positive screen? If so, what can I learn from a first trimester screen? What would be a good result for me? What would be a bad result? And how accurate are the differences in probabilities?

Thanks for your help!

Trisha
At Fri Aug 28, 05:47:00 PM 2009, Kenneth F. Trofatter, Jr., MD, PhD said…

To Wendy Aug 14: The PAPP-A and hCG are interpreted in reference to the CRL (crown-rump length) of the baby at the time of the determination. So they did base the results on the gestational age that was estimated by your doctor at the time of the test. Your increased risk was driven by your age and the low PAPP-A value in comparison to the 'normal' hCG value. PAPP-A usually does increase with gestational age but the difference between chromosomally normal babies and Down syndrome babies becomes less significant with time unlike the hCG. Your ethnicity could play into the interpretation of the results but I do not think it would have a significant impact in your case. Best wishes.
Dr T
Dr T
At Fri Aug 28, 05:58:00 PM 2009, Kenneth F. Trofatter, Jr., MD, PhD said…

To Trisha Aug 26: A 1in 300 probability is just as you say - 299/300 babies would be expected to be chromosomally norma. The 5% false-positive screen rate means that of all the first trimester screens done, 5% will screen positive (ie., have a risk greater than 1 in 300) but still have a chromosomally normal baby. Your combined first trimester screen includes your age in the analysis, but that is NOT the primary determinant of the risk assessment result in most cases. In fact, most women at age 35-36 will end up with a result that is much better than their age alone risk simply because most babies are chromosomally normal and the PAPP-A, hCG and nuchal translucency measurements will drive the results in that direction. In fact the primary advantage of the test is that it has dramatically reduced the need for invasive diagnostic testing in so many older women in whom that was the primary means of assessing their pregnancies for Down syndrome (and trisomies 18 and 13). Of course, it is just a screening test with the shortcomings of the same and you could always opt for an invasive diagnostic test if you so chose, regardless of the risk assessment results - and some women do! A good result for you would be anything less than your age alone risk since that is the level (1 in 300) at which the test is interpreted as "screen positive." Best wishes.
Dr T
At Fri Sep 11, 05:20:00 PM 2009, Anonymous said…

Dr T: First off, thank you for the great site, and being so helpful to so many.

I just turned 38 and went in for my 11 week screen. We have a singleton pregnancy after IVF with ICSI. Our Doctor transferred 2 embryos at 5 days. At 5.5 weeks it looked like we may have 2 gestational sacs, but by 7.5 weeks, the 2nd 'sac' looked to be gone, if it ever was really there.

I don;t have the exact blood results of our 11 week screen. What I do know is this....

the ultrasound showed a 1.7 on the nuchal fold thickness, and there was a nasal bone present. But, when my blood test came back, my odds were 1/170 for Down's Syndrome. Given my maternal age at delivery will be 38.5, my Doctor said that the average for women my age at this stage of pregnancy is 1/81. So, we are 2x the age related odds..... but we are still 'positive' since we are not better than 1/250.

It's hard for me to wrap my head around this, but would most women my age have a 'positive' result, (greater than 1/250) if the average is 1/81?

I also keep reading that IVF can skew the numbers a bit. Is this true?

Thank you for your insights.
At Wed Sep 16, 08:52:00 AM 2009, Anonymous said…

Hi,
I am currently reviewing my first trimester screening results. I must admit, I am trying to stay calm, but I am fighting the anxiety! I was told my screen was positive - with my increased risk being 1/140.
My neck measurement came back "nomral" at .94 MoM.
My PAPP-A was .55 MoM
and my hCG was 2,87 MoM.
I am 26 years old - will be 27 at delivery.
My Dr. told me my HCG level was mildly elevated and not to worry. Still, I would love your thoughts on what is a "normal" level and the results. I tried to look up the levels but couldn't find anything written in decimals like 2.87. Do I not have the correct units? I am simply reading off of the lab results.

Thank you so much for your time and effort,

concerned!
At Wed Sep 23, 10:29:00 AM 2009, Angie said…

Dr. T,

Your site is absolutely fantastic and it has done wonders to alay a lot of our fears.

I am a 38 (as of this coming sunday), african american woman. Here are my results:

CRL (mm) : 59.3
GA @ (U/S) : 12w2d
Free Beta hCG (MOM): 2.70
Fee Beta hCG (ng/ml): 139.03
Percentiles: 97.5

PAPP-A MOM : 0.79
PAPP-A (mlU/ml): 0.93
Delta NT: -0.43
NT (mm) : 1.10

Risk Table (Pre Screen)
Downs 1:135
Trisonomy 18/13 1:241

Risk Table (After Screen)
Downs 1:106
Trisonomy 18/13 : 1:4801

My husband and I are going for consultation next week to determine if we need to do an amnio. My husband, a true numbers guy seems to think our odds are well within reason, abd does not really want to do amnio ..but being the worry wart that I am, I'd like some general thoughts on our results.

Thanks for your help!
Angie
At Wed Sep 30, 11:56:00 AM 2009, Anonymous said…

I have just had a combined screening at Kings Hospital in London and although I was reassured by the odds I was given I am confused as after researching blood serum testing my bloods appear to have been high risk.

I am 31, 62kg, white non-smoker

my results were as follows (at 12 weeks 4 days)

Free beta hcg: 2.66 Mom
PAPP-A: 0.61 MoM
NT: 1.70 mm
CRL: 69.3mm
My combined odds were
1:2940 for Trisomy 21
1:30749 for Trisomy 13/18

Does this sound correct? Are my PAPP levels low for my weight, or are they ok? Also what are the possible causes of the high HCG levels?

Many thanks
At Wed Sep 30, 01:03:00 PM 2009, Kenneth F. Trofatter, Jr., MD, PhD said…

To anonymous Sep 11: Sorry for the delayed response. At age 38, the first trimester risk for Down syndrome is 1 in 100 and for all chromosomal abnormalities about 1 in 50. So you are correct, you are at about half your age-related risk and age is an important factor in the calculation of the risk assessment. So even though you are still 'screen positive' that is an arbitrary cutoff. That doesn't mean you are at greater risk than 1 in 170 (ie, 169 of 170 babies would be expected to be chromosomally normal given your combination of results). The real question is how do YOU feel about those results. If that is extremely frightening or you just need to know more information, then the risk of an amnio is no wose than about half of the risk the baby has Down syndrome (although if you lost the baby from the procedure, the odds are you would be losing a chromosomally normal baby!). If you can wait for more information, have a 'genetic sonogram' done at 18-20 weeks. If that is completely reassuring, your risk will be less than half the risk beased on the first trimester screen - on the order of 1 in 400 to 500. Only YOU can decide. Best wishes!
Dr T
At Wed Sep 30, 01:08:00 PM 2009, Kenneth F. Trofatter, Jr., MD, PhD said…

To Angie Sep 23: Technically you are still 'screen positive' and that is being driven by the relatively high hCG. However, I find a lot of resssurance in the normal PAPP-A and the normal NT measurement. Under these circumstances, it is a flip of the coin as to what you choose to do for further evaluation. Some women just need to know and for them an amniocentesis is entirely reasonable. Some women will wait for a genetic sonogram at 18-20 weeks which, if normal, will reduce that risk by at least 50%. Only YOU can decide! Best wishes for the rest of the pregnancy and let us know how things turn out!
Dr T
At Wed Sep 30, 04:57:00 PM 2009, Kenneth F. Trofatter, Jr., MD, PhD said…

To anonymous Sep 30: I have to agree with you. I am rather surprised by the risk assessment given your age and that combination of findings?!? You might just go back and ask them about that yourself and please let me know what they say. Best wishes...
Dr T
At Thu Oct 01, 03:32:00 AM 2009, Anonymous said…

Thankyou for your response, I am waiting for a call back from the doctor who performed the screening.What would you have said would have been more reasonable odds for abnormalities given my results? I had the screening done at a research centre called the Harris Birthright centre which is run by Professor Kypros Nicolaides, I know that they take into account the presence of the nasal bone and measure the blood flow in the heart and liver when determining odds. Based on my bloods alone though would me risk factor have been high risk?
Many thanks
At Fri Oct 02, 06:59:00 PM 2009, Anonymous said…

Dr. T,

First I wanted to let you know what a great site this is and commend you for taking the time to answer all of these questions. It is greatly appreciated.

I just got the results from my second semester (15.3 weeks) screen:

AFP Value 20.3 ng/mL
AFP MoM 0.68
hCG Value 37148 mIU/mL
hCG MoM 0.96
uE3 Value 295.46
uE3 MoM 1.38
DIA Value 295.46 pg/mL
DIA MoM 1.63

I will be 37.6 yrs at EDD in March.

Was told that my risk for Down Syndrome by age was 1:163 and overall 1:157. Will be undergoing ultrasound next week but very worried. Would really appreciate your thoughts, as I do not know what any of the Values and MoMs above really mean. Also, I am currently on thyroid meds. Thanks
At Mon Oct 05, 05:45:00 PM 2009, Kenneth F. Trofatter, Jr., MD, PhD said…

To anonymous Oct 1: Dr. Nicolaides is among the pioneers in this type of screening. You are correct, given the laboratory work alone, your risk would have been much higher, but if anyone in the world could reduce your risk with confidence based on the combination of other fetal findings, it would be the folks at Kings Hospital! Best wishes and thanks for getting back to us on this.
Dr T
At Mon Oct 05, 07:07:00 PM 2009, Kenneth F. Trofatter, Jr., MD, PhD said…

To anonymous Oct 2: Really don't try to sort out what the individual values and the MoMs mean. The bottomline is that your composite risk for Down syndrome is essentially equal to your age alone risk of about 1 in 160. That is a more reliable estimate of risk than that based on age alone because it factors in a real pregnancy (yours) rather than just a bunch of women who are the same age. The risk right now is no higher and no lower. In other words, about 159 ot of 160 babies with those results will be normal! The odds are in your favor that this baby is chromosomally normal. A completely normal ultrasound at 18-20 weeks will reduce that risk by AT LEAST 50%. Best wishes and let us know how things turn out.
Dr T
At Fri Oct 09, 05:07:00 AM 2009, jane said…

Dr. T,
I am 45 years old and 25 weeks pregnant with my 5th child. The other four pregnanacies were uneventful and resulted in healthy children who are 13, 11, 7 and 5. I have never had an amnio or CVS. At 12 weeks I had a nuchal translucency screening with the following results:

Nuchal fold: 1.1 mm
PAPP-A: 1.41 MoM
Beta-HCG: 1.09 MoM

My age-related risk for DS without these results is 1/19. With these results my risk became 1/490 for DS and 1/10,000 for Trisomy 18. My doctor was very pleased with these results and did not recommend an amnio or CVS. I chose to not have the quad screen (nor did I have just an AFP). At 19 weeks I had a genetic sono done. All was normal in terms of anatomy and growth, however, an isolated echogenic cardiac focus was seen. I have done a great deal of reading about this and have come to the conclusion that there is definitely controversey about this "soft" marker in terms of its relationship to DS. It seems the data is more clear in women under 35. First, are the numbers skewed in the above 35 population because their risk is already higher? Or, is that adjusted for? Second, my doctor says this is not an uncommon finding (which is confirmed in some of the literature) and that my first trimester results are a better way to make a decision about amnio. He is not too concerned, other than helping me deal with my anxiety! What is your opinion about echogenic cardiac foci in general and particularly with advanced maternal age if it is an isolated finding. Would you recommend an amnio in my situation?
Thank you so much for your time, opinion, and expertise.
At Mon Oct 12, 02:27:00 AM 2009, Vishnu said…

Hi Dr. T,

I am 27 yrs old and 17 weeks pg. I have taken the triple test and I am screen positive both for downs and trisomy 18.

Downs: 1:140
Trisomy: 1:80
ONTD: 1:17000

During my Us, i have also been found with Echogenic cardiac focus. There were no other markers.
I am planning to get the amnio on 15th oct. But, i am so nervous about the whole results. Could you please throw some light on my numbers? Have there been such cases, who were found to have normal healthy babies?

Thanks a ton,
Vishnu
At Wed Oct 14, 02:22:00 PM 2009, Anonymous said…

Dr. Trofatter,
I received the results of my first trimester risk assessment test. My risk came at 1 in 160 for DS. The risk for my age is 1 in 50. These are the results:
AGE EDD 40 (just turning 40 at time of delivery)
Scan Measure (CRL) 51mm
Gestation date 11wk 5d (CRL)
Weight 131 lbs
Ethnic Group Non Black
NT: 1.5mm 1.41MoM
PAPP-A: 1.12miu 0.71MoM
HCG 69.9iu 0.84MoM

Thank you for helping interpreting my results and your avdice on what to do next. I am seriously considering amnio. What is driving my result? The HCG and/or the PAPP-A. The NT is fine. Also, why does it say "non black". I am white hispanic.
Thank you for your answer. Ava
At Thu Oct 15, 04:15:00 PM 2009, Krista and Matt said…

Dr. T,

I a 27 years old and decided to have first trimester genetic screening (mainly because I wanted the early ultrasound, I live in a rural town that is a little behind the times) anyways I was shocked to have my result come back as screen positive for down syndrome at 1:150. My results were:
Gest age 12.4 weeks
NT 1.3
hcg 276.9 IU/ml /3.99 MoM
PAPP-A 1.30 mIU/ml /0.57 MoM
Could you help me interpret this furthere? I had an ultrasound again at 16 weeks to check my cervix and according to ultrasound, baby looks fantastic. Should I have amnio?
At Thu Oct 15, 06:35:00 PM 2009, Kenneth F. Trofatter, Jr., MD, PhD said…

To Jane Oct 9: Even if the echogenic focus doubled your risk the overwhelming likelihood is that this baby is chromosomally normal based on what you have told me. I generally tend to agree with your doctor. EIFs are overrated as "soft markers" although I will say this, we have picked up a case of Down syndrome with nothing but an EIF found at the time of a genetic sonogram. Best wishes and I am betting things turn out just fine!
Dr T
At Thu Oct 15, 06:37:00 PM 2009, Kenneth F. Trofatter, Jr., MD, PhD said…

To vishnu: I really can't help much not having looked at the baby myself. I think the amnio is a good idea and I hope the results turn out favorable for you. Best wishes.
Dr T
At Sat Oct 31, 10:15:00 AM 2009, Anonymous said…

Dear Dr. T,
I am 33 year old Asian woman and 15 weeks pregnant. I had got the first trimester screening done at 13 weeks + 0days. Please find my screening results below. I am very much worried about the biochemical screening result which indicates positive. Please provide your suggestion.

Weight - 44 kg
Height - 147.3cm
Non-smoker
CRL - 75.1mm
NT - 2.2mm
B-hcg - 4.824 MoM
PAPP-A - 1.399 MoM
Chromosomal markers: nasal bone present, facial angle measurement : 77 degree, Tricuspid doppler: normal, Ductus venosus Doppler : normal.

Age risk for T21 1:560
Risk given by blood test - 1:160
Risk given by combined screening - 1:1318

Waiting for your opinion,
Thanks.
At Tue Nov 10, 05:11:00 PM 2009, Janis said…

Dear Dr. T,

Thank you for such a helpful blog !
I am worried about my first trimester screening results, especially about NT measurement.
age: 34
weight: 74 kg
Caucasian
diabetes: NO, smoking: NO (however, it seems that these two parameters have been ignored in the calculations because "n/a" appears for both).

My results at week 10 were:
PAPP-A 0.22 mIU/ml = 0.39 MoM
free β-hCG 13.6 ng/ml = 0.21 MoM
My results contained a note saying that the levels of both free β-hCG and PAPP-A are low.
risk of Trisomy 21 1:2183
risk of Trisomy 18 1:189

Just now I had USG at week 12.4 which came with quite a shock to me because of the NT measurement:
CRL 58.2 mm
NT 5.2 mm
heart rate 165
Also, my doctor said that all the limbs, chest, heart, rump etc. seems to be normal except that baby's bladder was slightly too big and the abdomen was a bit too round.

Although I have never had swollen legs or similar, a couple of years ago I was told by a doctor that my body tends to accumulate more liquid than normal. He said this may be the cause of the common headaches which I had that time. Can this somehow be linked to the NT measurement?

I am worrying a lot. I would greatly appreciate your advice.
At Tue Nov 10, 05:47:00 PM 2009, Janis said…

...in addition to my previous comment:

What are your estimates what is the probability that my baby will be healthy ?

I am so worried.
At Thu Nov 12, 05:51:00 PM 2009, Kenneth F. Trofatter, Jr., MD, PhD said…

To anonymous Oct 31: I recommend putting your faith in the "COMBINED" results and not the individual parameters. But if the increased risk based on the biochemical markers is something that is unacceptable to you, then an invasive diagnostic test can answer the question once and for all. The choice is yours and I wish you the best.
Dr T
At Thu Nov 12, 05:54:00 PM 2009, Kenneth F. Trofatter, Jr., MD, PhD said…

To Janis Nov 10: The risk for a chromosomal abnormality and/or a congenital heart defect is so high given the combination of findings that I would strongly recommend an invasive diagnostic test to rule out the former at this point. Remember, the screening test does not pick up all chromosomal abnormalities. Best wishes and please let us know what you do and what you find out.
Dr T

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Understanding Interpretation of First Trimester Screening Results

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