Reader's Questions Related to Low PAPP-A in First Trimester Screening for Aneuploidy

201 Comments:

• At Fri Mar 28, 12:20:00 PM 2008,  Anonymous said…

  Dear Dr T, I am currently 29 years old and 14 weeks pregnant. This is my 4th pregnancy. My first pregnancy was uneventful until I suddenly developed HELLP Syndrome at 35 weeks. My healthy 6 pound daughter was delivered with no complications. 2 years ago I had a missed miscarrage at 8 weeks and in October of last year I lost my second daughter at 37 weeks due to a placental abrubtion. I took baby aspirin and extra folic acid during this pregnancy. After we lost our daughter I had a complete workup and was found to be heterozygous for Factor V Leiden. No other blood disorders and I am otherwise in perfect health. I have no family or personal history of blood clots. I am currently on Lovenoz 40 mg/day, baby aspirin, extra folic acid and prenatals. My perinatologist, OB and hemotologist are all optimistic. I am scared to death! I worry about losing another child or having a problem myself when I already have one at home to raise. All ultrasounds show normal healthy growth. Do you have any other reccomendations besides my current regimine?

   

• At Sat Mar 29, 05:48:00 PM 2008,  Anonymous said…

  I am 37 and I had four miscarriages in the past year. First mc was trisomy16 and the others were all naturally passed. I went to a high risk ob and he did all types of bloods on me. Everything normal. Now I am on a variety of meds. I can get pregnant but I can't go beyond 8 weeks. So now I'm taking clomid, prednisone,levonox, progesterone, baby aspirin, prenantal with vitamin B and Folgard. Does this seem normal? I just really want to have a baby!!!!! And is all this good for my body. The dr. did explain everything but i wanted some advice....

   

• At Sun Mar 30, 07:56:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Anonymous Mar 21: No other suggestions at this time - it looks like you are in good hands. Your doctors will probably couple assessment of fetal growth with Doppler flow studies later in pregnancy. All they can do is keep a VERY close eye on the baby and 'bail out' at the first sign of any real danger. Good luck to you and let us know how things turn out.
  Dr T

   

• At Mon Mar 31, 10:32:00 AM 2008,  Anonymous said…

  DR T - I'm interested in your comments. I'm 38 and recently did my ultrascreen test. My beta-HCG was 2.06, my PAPP-A was 0.50, and my NT was 2 mm. How concerned should I be? Is this PAPP-A number cause for conern?
  
  Also, I had spotting (because of a low lying placenta) during weeks 7, 8, and 11. Could this be related?
  
  Thanks so much -
  LR

   

• At Tue Apr 01, 06:21:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To LR: Without the master computer at my fingertips, I presume that combination of findings with your age puts you at increased risk for having a baby with Down syndrome. What was your actual risk assessment?
  Dr T

   

• At Wed Apr 02, 05:52:00 AM 2008,  Anonymous said…

  The risk that the lab reported was 1 in 15. I'm just wondering about other causes of the low PAPP-A and the high HCG.
  
  A nasal bone was detected at my 11 week u/s. Is that good news?
  
  I'm very anxious about all of this, as you can imagine.
  Thanks for your time -
  LR

   

• At Thu Apr 03, 04:31:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To LR: I was afraid you would tell me that. The presence of a nasal bone can be reassuring, but if that was reported, then any risk reduction associated with that has already been included in the risk calculation. I know in "high risk" situations, no correction for nasal bone is sometimes included. You need to consider your options for fetal diagnosis, but I sense you would benefit from knowing for sure and the only way to find out is to have an invasive diagnostic study done. I am sure you have discussed your options in this regard with your doctors, so good luck with your decision and the outcome. Please let us know what happens. Thanks again for reading! Dr T

   

• At Thu Apr 03, 06:29:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Anonymous Mar 29: With that history of repetitive miscarriages and your age, I would offer you a regimen very similar to what you are taking. It is 'empiric therapy' but it is also safe enough for pregnancy under your circumstances. Good luck and thank you for reading. Dr T

   

• At Thu Apr 03, 06:51:00 PM 2008,  Anonymous said…

  Hi Dr T -
  In reviewing my lab report, I notice that the dates are incorrect. My blood draw was on 3/24/08, but the report indicates that it was on 3/20. So they did their calculations under the assumption that it was 4 days earlier in the pregnancy. My HCG was high, PAPP-A low, fitting the profile of Trisomy 21. As I understand things, HCG levels drop and PAPP_A levels increase over the course of the pregnancy. Sp does this date mistake indicate that the results are even worse than what was reported?

   

• At Fri Apr 04, 04:19:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Apr 3: It is my understanding that teh laboratory does not usually make adjustments if the difference between actual gestational age and reported gestational age are only 4 days. So, the final result would still put you at increased risk for trisomy 21. Thanks for your questions and please let us know how things turn out. Dr T

   

• At Sun Apr 06, 07:54:00 PM 2008,  Anonymous said…

  Dear Dr T, I would be 37 at delivery and my Integrated Screening results are:
  
  At 13w1d,
  NTS 1.6mm or 0.86 MoM
  PAPP-A 2350.5 mU/L or 0.48 MoM
  
  At 16w5d,
  Serum hCG 75.1 IU/mL or 2.33 MoM
  Serum AFP 43.5 ng/mL or 0.82 MoM
  
  Screen positive at risk 1 in 150.
  
  Whether the hCG is total or free beta is not known. I'm kind of denying/disbelieving the results as they look so textbook-like. Anyway I am considering an amnio in this week. In the event that the amnio is negative, how should I take the screening results above? or what did they say about aspects of my prenancy that I should watchout for in the remaining months?

   

• At Tue Apr 08, 04:47:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Apr 6: I don't have my tables in front of me, but the calculated risk is probably slightly less than your age alone first trimester risk for having a baby with Down syndrome. Being "screen positive" does not mean you are any higher risk than the 1 in 150, it just means that you fall above the cut-off of 1 in 250-300. Odds are in your favor that the baby is chromosomally normal, but if you want to know for sure, then the amniocentesis is the way to go. An alternative that is frequently considered at this more 'intermediate risk' level is to have a 'genetic sonogram' done by a specialist in Maternal-Fetal Medicine or Radiology at 18-20 weeks. If the baby has no major abnormalities or 'soft markers' for aneuploidy, then your a priori risk (based on the first trimester screen result)is reduced by 60-80%. That would put you in the range of 1 in 400. Of course, if something suspicious is seen at that time, you could still proceed with an amniocentesis. The choice is yours! Thanks for reading, good luck, and let us know how things turn out. Dr T

   

• At Mon Apr 21, 07:35:00 AM 2008,  Anonymous said…

  I am 37 (Age at EDC:38) I recently had an ultra screen with an increased risk for down syndrome. The results are:
  NT 1.3
  hCG(MOM) 3.15
  PAPP-A 0.54
  NT 1.3
  CRL(mm) 53.5
  
  Are these numbers really a cause for concern??? I cannot find what "normal" should be for these tests. I have to see a genectic counselor at the end of the week, but I feel like I've aged more in these last 5 days then in the last 5 years!! I also have a healthy 3-y-0 boy. Thank you for any help or advice you can give.

   

• At Mon Apr 21, 07:36:00 AM 2008,  Anonymous said…

  I am so sorry, I think I left my question a few times on your site. I am so sorry for the trouble, but I would greatly appreciate it if one could be left for the Doctor to answer. Thank you again.

   

• At Mon Apr 21, 05:57:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Apr 21: We don't like to talk about "normals" when we evaluate the serum markers and the other measuremenst we plug into risk assessment in first trimester. There is continuous variation and the important factor is how the combination of values are related. In your case, the high hCG combined with the low PAPP-A and your age probably place you at fairly high risk for Down syndrome. What was the actual risk you were given? Even then that does not absoluetly mean the baby has Down syndrome. Remember, it is just a screening test, but it is an indication for us to offer you invasive diagnostic testing if you want to find out for sure one way or the other. Best wishes and let us know how things turn out. Dr T

   

• At Tue Apr 22, 07:06:00 AM 2008,  Anonymous said…

  My OB gave me a fraction of 1/28. I saw a genectic counselor yesterday, they were able to get me in earlier, and she said that turns into a 96% chance the baby is fine and a 3+% for DS. Which to me just "sounds" much better than that fraction. Now I have to decide about the amnio, which also scares me due to the chance for miscarriage. She said their rate at the facility is 1/400. So, I'm still on the fence but need to make a decision soon as I am 13 weeks and would need to schedule this for 16w. Any other advice on the amnio??? Thank you so much again and I'm so glad I found this site!!!

   

• At Tue Apr 22, 04:42:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Apr 22: Consider scheduling the amnio and then waiting to make your final decision about having done until afte the ultrasound is performed. Lots may play into the final decision - the growth of the baby, findings of any abnormalities, the placental location, etc. The risks your office quotes are very good and their actual rates are probably even better than that which they are quoting you. It is a fairly safe and simple procedure. Good luck with things and please let us know how everthing turns out. Dr T

   

• At Sun Apr 27, 12:51:00 AM 2008,  Anonymous said…

  I'm 34. First pregnancy (3rd ICSI). Grow restriction- head, leg normal , CRL smaller (48 mm at 13 week). Extremly low PAPP-a =0,02 MoM and HCGb=0,04 MoM
  What could be the reasons for such low Pappa and hcg values ?? What are the chances for normal baby. I am waiting for amnio. What else shoud I check ? (I had severe adhesions in uterus)..

   

• At Wed Apr 30, 05:45:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Apr 27: I don't beat around the bush. If you are really 13 weeks and the crown-rump length of the baby is consistent with 11 weeks, then the prognosis for the pregnacy is poor. The baby most likely has a chromosomal abnormality or an exceedingly poor site for placentation because of the intrauterine synechiae. The only other common problems under these circumstances are a congenital CMV infection or a severe genetic disorder, but both of these are much less likely than the first. Please let us know how things turn out. Dr T

   

• At Tue May 13, 12:15:00 PM 2008,  Anonymous said…

  Dear Dr. T, I wrote to you earlier, Anonymous Apr.21/22...I am 16 weeks and just went for a genetic sono as a last resort before the amnio and my numbers went from 1/28 to 1/56. So now I have a 98% chance of a baby with no D/S. The md said the baby looked perfect right now but, of course, recommended the amnio. I'm sure you will tell me the same thing, but I'm thinking of taking the 98% chance and leaving it alone. Thank you for any advice you can give me.

   

• At Thu May 15, 06:23:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous May 13; Nope, no recommendations from me! That choice is entirely yours. You are obviously still at 'increased risk'. The risk of the amnio in experienced hands is at least 10 times less than the risk of the baby having Down syndrome. But, I am afraid you are the one who will have to decide whether or not you want more information now. You MUST do what makes you most comfortable. Good luck my friend and please let us know how things turn out.

   

• At Mon Jun 16, 06:17:00 AM 2008,  Anonymous said…

  Dear Dr. T, Well, this is anonymous May 13, and I went through with the amnio, which was painless, but very nerve-wrenching, and we got the final results which came back all normal. Thanks for this blog and taking the time to answer all our questions.

   

• At Mon Jun 16, 10:46:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous June 16: Congratulations! Now sit back, relax and enjoy the rest of your pregnancy. Let us know how your delivery turns out! Best wishes. Dr T

   

• At Thu Jun 19, 07:20:00 AM 2008,  Anonymous said…

  Dear Dr. T.
  I am 39 and had 1st trimester screen @ 12 weeks.
  NT measurement = 1 (actually, during the U/S several lower measures were observed in the .8-.9region but the OB used the most conservative)
  CRL = 56.1 mm
  Free beta hcg = 1.06 M)M (50th percentile)
  PAPP-A = .4 MOM (10th percentile)
  
  So, the combined risk = 1/256 for DS, driven I assume by the low PAPP-A. What is the meaning of 10th percentile? Does that mean that 10 percent of all babies measured have this PAPP-A and some subset of those have DS? I am not sure how to "think about" the anomalous PAPP A in light of the other 2 markers being good.
  
  Thank you!

   

• At Sat Jun 21, 06:30:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous June 19: At your age, that is a darn good screening risk result. The Down's risk is being driven by your age and the low PAPP-A. The 10th percentile means that at that gestational age, 90% of all babies will have a value higher than the one your baby had. Quite frankly, the odds are in your favor that the baby is fine and all I would recommend at this point is a MSAFP screen at 16 weeeks and a 'genetic sonogram' at 18-20 weeks. If the latter is normal, your risk (based on the first trimester screen) is reduced at least another 60-80%. But, in the end the choice is yours! Best wishes. Dr T

   

• At Mon Jun 23, 06:54:00 PM 2008,  Anonymous said…

  I am 37 and had first trimester screening done at 11wk3d. The result was negative, but my counselor said my risk level for T21 was 1 in 51 due to low PAPP-A, age, and having 3 past miscarriages, one with T21.
  
  bhcg: 0.84
  PAPP-A: 0.54
  NT: 1.15
  
  We plan to do the amnio, but we are being given the option to do CVS this week just before the 13th week. We would prefer find out sooner than later, but with the bhcg and NT being within such a normal range, do we need to be overly concerned at this point to do the CVS?

   

• At Thu Jun 26, 06:06:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous June 23: Ignore the INDIVIDUAL test results. The screening test's strength rests in the COMBINATION of the results. So, the number you have to deal with is 1 in 51. You will have to decide whether you need to know now or later...no one can make that choice but you. Good luck and let us know how things turn out! Dr T

   

• At Sun Jul 20, 07:55:00 PM 2008,  Anonymous said…

  Dr. T,
  I want to see what you think of my sequential screen results. I am 37, first pregnancy, natural pregnancy. I had myomectomy surgery to remove 3 large fibroids last year (equaled a pound.) I still have 2 small fiboids. The ultrasound was great, but the blood test showed a 1/42 risk for trisomy 21 (my age is 1/100), because of low PAPP-A.
  
  The test was at 11.7 weeks:
  
  NT: 1.08 MOM
  PAPP-A: .29
  HCG: 1.05 MOM
  Weight: 162 lbs.
  
  Do you think the fibroid surgery could contribute to the low PAPP-A level? I don't know if I should just get a level 2 ultasound or get an amnio. What do you think? Thank you.

   

• At Mon Jul 21, 03:11:00 PM 2008,  Anonymous said…

  Hi doc. I received my results today from my ultra-screen --- all I knew beforehand was that there was a cystic hygroma and a significant measure on the NT scan (12 mm). My question is more in regard to just the blood -- my free beta hcg was.84 and my PAPP-A was .65, both of which sound to be very normal. Is that correct? My results are of increased risk but considerably higher for downs than 18/23. Why? If both blood measurements are normal, what makes downs more likely?
  
  My concern is that the numbers are being driven by the NT measurement and my age (34) only. I am wondering (and will have answers soon) if there isn't anything chromosomally wrong with the baby and that the cystic hygroma is being caused by some other pathological process gone wrong...
  
  Thanks!

   

• At Tue Jul 22, 06:38:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous July 20: Due to your extensive surgery, The low PAPP-A level could be due to a suboptimal placental implantation site and I hope that's all it is. However, at your age, that's hanging an awful lot on a big MAYBE. If you want to find out for sure, then the amnio would be the way to go - although it too is not without risk and that risk may be greater because of ypour surgeries as well! Make the decision that is right for YOU and let us know how things turn out! Dr T

   

• At Tue Jul 22, 06:42:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous July 21: I think you are correct. The large NT measurment and your age are probably the primary drivers of the Down's risk. The hCG is well within a reassuring range and the PAPP-A is only modestly low. More importantly, there is not a wide disparity between the MoMs of teh hCG and PAPP-A. I will be curious to see what the chromosomal studies turn out to be, so please let us know. Dr T

   

• At Wed Jul 23, 12:33:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous July 21: I wish I knew how the great computer housing the databank for first trimester screening decides on the results, but all I can say is it is based on 10's of thousands of pregnancies at this point. I think the fact that the hCG and the PAPP-A are so normal that it is less likely the baby has trisomies 18 or 13, wherein both serum markers are often quite low. You are of course correct that the NT and the age are driving your final assessment, but you are also correct to point out that there could be another cause for the cystic hygroma other than (or in addition to) aneuploidy - such as a complex congenital heart defect. Please let us know what you find out. It will help when I am asked to counsel another patient in your situation. Best of luck. Dr T

   

• At Tue Jul 29, 06:41:00 AM 2008,  robin m said…

  I have had a first trimester screen and I am very scared and confused.
  
  Nt1.0
  Nasal bone present
  crl 59mm
  
  Free beta 98%
  free beta MoM 3.0
  
  Papp-A 30
  Papp-A 0.62
  
  Is the Papp-a only modestly low. Is the free hcg exceedingly high.
  
  I was given odds of ds of 1/15. Please help

   

• At Wed Aug 06, 05:27:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Robin M: Your observations are correct. The hCG is elevated (only 2% of pregnancies have a higher value at this gestational age) and the PAPP-A is only modestly decreased. The difference in MOMs between the two serum markers is probably adding considerably to your risk. The presence of the nasal bone and the normal NT measuremment are very reassuring, but the combined risk assessment result is what it is. You will have to decide whether or not you want to find out if the baby has a chromosomal abnormality prior to delivery. By the way, you did not tell me your age, but if you are over 35, that is also adding to your final result. Unfortunately, at that risk level, even a normal ultrasound at 18-20 weeks cannot reduce your risk to a very reassuring level. Good luck and let us know how things turn out. Dr T

   

• At Wed Aug 13, 05:50:00 AM 2008,  Anonymous said…

  Dear dr. T, I am 33 years old and 12 weeks pregnant. I had a blood serum test at 9w3d and the results was as follows:
  
  Free B-HcG 121 or 2.087 Mom
  PAPP-A 0.3554 or 0.505 MoM
  
  My NT scan was at 11w5d
  
  CRL 58 mm (measuring 12w1d)
  NT 1.1 mm (at widest point)
  
  blood chemistry risk was 1:103
  ultrasound risk was 1:1935
  Combined risk with age: 1:551
  
  While the US risk looks fine, I am concerned about the blood chemistry result. The Dr. mentioned aside from the DS risk the low PAPP-A can also lead to other complications. How low is 0.5 MoM really? How concerned should I be. What other tests would you recommend - so far I am considering MSAFP screening and a doppler study for placental function, maybe a growth scan.
  
  Anje

   

• At Sat Aug 16, 06:43:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anje: As I have told many thers, if you try to take the test reslts and look at each separately, you will go crazy: Try to close your eyes and just look at the COMBINED risk assessment. That's where the power of this screening test lies. Having had the serum markers done so early, there may be a greater range of varuition and the "low" PAPP-A may be completely meaningless. I think a "targeted ultrasound", serial assessment of growth, and perhaps Doppler studioes wll give you the reassurance you will need without doing an invasive diagnostic procedure. Good luck and let us know how things turn out! Dr T

   

• At Tue Aug 19, 02:38:00 PM 2008,  Anonymous said…

  Dear Dr. T.,
  I am 32 years and old and 14 weeks pregnant with my second child. My first child was a healthy baby boy. I had the NT and related blood work done at 12 weeks and had a "screen negative" result for DS and Trisomy 18. My PAPP-A level, however, was only .17. I understand that this increases my risk of IUGR, preterm labor and other placental complications. My doctor has told me that we will monitor the baby closely, especially starting at 30 weeks. I am panicked that the baby will be deprived of oxygen and nutrients and be born with disabilities. I wonder if there is anything more I can be doing (like taking aspirin, eating more, etc?) or if I should pursue any additional testing. Also, can I take any reassurance from the fact that my first pregnancy was healthy and uneventful? Thank you.

   

• At Fri Aug 22, 05:37:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Aug 19: Eating excessively will probably NOT help (and might actually hurt), because you will gain too much weight and increase your risk for gestational diabetes. My approach to situations like yours is to obtain an AFP level at 16 weeks nd evaluate the baby at 18-20 weeks, including uterine artery Doppler flow studies. At 24-28 weeks, I will reevaluate fetal growth and perform umbilical artery Dopplers, and if those are abnormal, middle cerebral artery Dopplers. If all that is normal, odds are uyou have a normally vascularized placenta and your baby is at relatively low risk for all those complications you mentioned. Best wishes for the rest of the pregnancy! Dr T

   

• At Fri Aug 29, 02:50:00 PM 2008,  Anonymous said…

  Dear Dr. T,
  I am 32 and 14.5 weeks pregnant. I had an early risk assessment that measured NT, free beta HCG, and PAPP-A.
  
  NT - normal
  HCG .09 MOM
  PAPP-A .08 MOM
  
  This placed me in the high risk category for trisomy 13/18, with a risk profile of 1/5.
  
  I am really worried about the low hormone levels. They seem to indicate a problem with the placenta. If an amniocentesis shows the baby is healthy (no aneuploidy), what are my chances of carrying to term? Thank you for considering my question.

   

• At Tue Sep 02, 06:09:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Aug 29: I don't know. Those are the lowest MoMs for both hCG and PAPP-A I have seen in quite awhile. If the baby is chromsomally normal, it will clearly be important to follow this pregnancy for both fetal growth and Doppler flow assessment of the uterine arteries, umbilical artery, and, later, the fetal middle cerbral artery - I would recommend starting by 20 weeks. Please let us know what you find out and best wishes! Dr T

   

• At Fri Sep 05, 07:44:00 AM 2008,  Mjs_mom said…

  Dear Dr. T
  
  I'm 36 years old and just got a screen positive for T21. My initial risk was 1:200 then it was readjusted to 1:240 once my weight was factored in. I'm more concerned about the trend that my bloodwork revealed
  
  AFP - 0.58 MoM (0.52 first time)
  uE3 - 0.90 MoM (0.87 first time)
  total HcG - 1.61 MoM (1.44 first time)
  PAPP-A - 0.61 Mom (0.48 first time)
  NT - 1.3mm/0.89 Mom
  
  I'm mostly worried about the higher HcG and the lower levels of AFP, UE3 and PAPP-A. I'm debating an amnio just to be sure. What are your thoughts? Are the risks of an amnio worth it?

   

• At Mon Sep 08, 12:08:00 PM 2008,  Anonymous said…

  Hi Dr T
  I would be grateful for your advice please. I will be 37 next month, and at 12+5 I had my scan and bloods taken with the following results:
  NT 1.3mm
  HCG 1.3
  PAPP-A 0.33
  I was given a risk of 1:240 for Downs. Should I be worried enough to have an amnio? I am worrying myself stupid about this, and yours is the only useful website I can find about all this. Your advice would really be appreciated
  
  THanks Paula

   

• At Wed Sep 10, 06:44:00 AM 2008,  Kelly said…

  Dear Dr T,
  I'm currently 34 years old and will be 35 at the delivery date. This is my 2nd pregnancy. I have a 4 year old healthy girl.
  I recently had the first trimester screen test for down syndrome. The results are:
  NT 1.9
  hCG(MOM) 1.08
  PAPP-A 0.68
  Inhibin A 0.89
  risk assessment 1:470
  
  But the gestational age they used in the report is 13 weeks and 1 day; however, the actual age should be 12 weeks and 1 day. I'm wondering how this 1 week difference affects the risk assessment? Will it increase my risk or reduce it? Since 1:470 is close to the cut off.
  Thank you.

   

• At Wed Sep 10, 05:21:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Kelly: The results are very good - less than half your 'age alone' risk in first trimester. Most laboratories do not use the gestational age to interpret the results, they use the crown-rump length of the baby (from the top of the head to the butt). Odds are your baby is fine. I would still recommend a targeted sonogram at 18-20 weeks. Best wishes for the rest of the pregnancy! Dr T

   

• At Wed Sep 10, 11:22:00 PM 2008,  Zeta said…

  Dr.T,
  I realise the resuls are all calculated by a software, but the numbers seem to vary so much... Could you please answer the 4 questions I have?
  
  1- Afterall, what are considered the normal levels of Free bhCG, for a woman age 35, on her 12 week?
  
  2- What are normal levels for PAPP-A for a woman age 35, on her 12 week?
  
  We know that sometimes even though the serum tests show a low PAPP-A and high free bhCG placing the baby in a high risk cathegory, after an anmiocentesis we find out the baby is actually fine.
  
  3- So what are other reasons for low PAPP-A?
  
  4- And what are other reasons for high free bhCG?
  
  Thank you

   

• At Thu Sep 11, 04:52:00 AM 2008,  Kelly said…

  Dear Dr. T,
  Thank you for your response. I've already scheduled a level 2 (or level 3) ultrasound.
  
  Thanks again,
  Kelly

   

• At Fri Sep 19, 12:30:00 PM 2008,  Sarah said…

  Hello! This blog is so useful.
  I had a nuchal fold scan last week and it came out as low risk (1 in 506).
  Unfortunately I had the blood results today, and they are worrying.They place me in high risk (1 in 20).
  My overall risk is 1 in 94.
  My blood results were as follows:
  Free beta hCG: 2.4084 MoM
  PAPP-A :0.6315 MoM
  I conceived aged 38 and will deliver aged 39.
  I am very concerned as it seems that the very high hCG is the most reliable indicator of Downs.

   

• At Mon Sep 22, 01:53:00 PM 2008,  Anonymous said…

  Dr. T,
  I am so happy to have found your site. I ask for the blunt truth from you please - - I can take it and would prefer to know.
  
  I am 37 and will be 1 month shy of 38th b-day when baby is delivered.
  
  Had NT done at 12W6D (based on LMP although baby was measuring 13W4D.
  
  Just got my results back which were, as I was told, "not ideal".
  
  NT 1.9
  PAPP-A 0.7
  Free Beta 2.0
  
  Can you please share your thoughts on these results? MANY THANKS.

   

• At Mon Sep 22, 07:45:00 PM 2008,  Anonymous said…

  Hi Dr. T, this is Anonymous Aug 29 2008. I wanted to give you an update. An ultrasound on 9/15 showed no heartbeat and the baby had died a week or more prior. We are still waiting for the amnio results and a pathology examination after the D&E on 9/19. I will let you know whether or not aneuploidy is confirmed.
  
  I want to say thank you for replying so quickly and giving a straightforward, honest assessment. While it was painful to realize the sad truth about my situation, it has helped me cope. Your work is important, and this site is a valuable resource.

   

• At Tue Sep 23, 09:06:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To mjs_mom: The question is are the risks worth it to you?!? You are the one who must live with the decision and any consequences of a poor outcome, not your doctor! The risks are not high, but a baby lost as a consequence of an amnio under these circumstances is usually a chromosomally normal baby. But, if you really want to know to make decisions that are right for yourself, then that is the route you should take. We can only give you the risks and benefits and promise to do the procedure as safely as we know how. Best wishes and thanks for reading! Dr T

   

• At Tue Sep 23, 09:08:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Paula: Se my response to mjs_mom right above this! Good luck and let us know how things turn out! Dr T

   

• At Tue Sep 23, 09:15:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Zeta: The "normal results" for both hCG and PAPP-A vary by gestational age and that's why we have decided to express them as 'multiples of the median' (MoM). The closer to 1, the more "normal" the result for that gestational age. You can feel very comfortable if the individual MoMs are between about 0.7 and 1.3. With regard to low PAPP-A and elevated hCG levels, I have written several posts that address these issues. Query my archives using PAPP-A and hCG and you will find them all. Good luck and thanks for reading. Dr T

   

• At Tue Sep 23, 09:18:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Sarah: The elevated hCG, the difference in MoMs between the hCG and the PAPP-A, and your age are all driving your risk. The NT measurement alone will detect only about 50% of babies with Down syndrome. If you want to find out for sure, you should consider a CVS or an amniocentesis after discussing the results with your doctor. Best wishes to you. Dr T

   

• At Tue Sep 23, 11:09:00 AM 2008,  Anonymous said…

  Hi Dr T
  I just received my First Trimester Screening results and they are as follows:
  
  Screening done at 12wks 3 days
  NT: 3.1mm
  hCG: 1.59 MoM
  PAPP-A: .59 MoM
  My age: 41
  
  Combined risk for T21: 1 in 5
  Combined risk for T18: 1 in 41
  
  My doctor is not certified to comment on the nasal bone but did say he didn't see one. I guess I'm posting my results simply to get your professional opinion. I'm very worried, and realize I'm super high risk. My amnio is scheduled for next week.

   

• At Tue Sep 23, 12:05:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Sept 23: Yes, unfortunately your age, the widened NT measurement and the combination of maternal serum markers pushes the risk very high. An amnio is certainly indicated under these circumstances, but don't give up hope - remember so far you have only had a screening test, not a diagnostic test. Best wishes and please let us know what you find out. Dr T

   

• At Fri Sep 26, 10:43:00 AM 2008,  Anonymous said…

  Hi
  I am 33 years old. I am 16 weeks pregnant. I was to screening in week 13 and tre days. The results are
  beta hcg: 2,537 MoM
  PAPP-A: 0,609 MoM
  NF: 2,3
  CRL: 74,00 mm
  The results put me in a high risiko for down sygdom. But I have not got any explanation. I am waiting for results of amniocentesis. Anyway I really would like to know how the results look and why I have a risk of 1:235?
  Thanks you very much
  Ive

   

• At Tue Sep 30, 04:31:00 AM 2008,  Anonymous said…

  Hi Dr. T,
  
  This is Anonymous from Mon Sep 22, 01:53:00 PM 2008.
  
  Just making sure my post wasnt missed. I am anxious for your response. Thank you very much!!

   

• At Sat Oct 04, 10:02:00 AM 2008,  Rebecca said…

  Dr. T Thanks for your Blog! I am a 44 yrs. old. I have an egg donor that is 23. I have never given birth to any children, this will be my first. I am O negative and sensitized. I just had the NT test at 12w1day and the results were:
  HCG:0.43
  Papp A: .053
  Neck thickness: 3.6
  CRL: 52
  Nose cavity: visable
  Blood flow in baby: good
  Heart beat: 168
  
  I plan to have an Amnio in a few weeks, but I am so nervous about all these "scores" they gave my husband and I a ratio of 1:46. We have an appointment with the genetics counselor Monday but I just want to understand why types of problems come with lower Blood test results. I've seen combinations in your blog but not both low. Can you give us some insight to what you've seen in your practice.
  Thank you. Rebecca

   

• At Sun Oct 05, 06:32:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Anonymous Sept 22: I cannot interpret the individual test results. The NT and the PAPP=A are within range of normal variation and the hCG is modestly elevated. That might result in an increase in your risk for Down syndrome, but I am not the computer that compares you to all the other women in the universe! What was your composite risk assessment result? Dr T

   

• At Sun Oct 05, 06:34:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Sept 22 (Aug 29): Oh, I am SO sorry for your loss but I really appreciate the follow-up. Please let us know the final conclusions once they are back. Kind regards, Dr T

   

• At Sun Oct 05, 06:37:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Ive Sept 26: You were at increased risk because of the high hCG in relation to the modestly decresaed PAPP-A. Hopefully with that composite risk assessment result of 1 in 235, the amniocentesis will tell you the baby is still chromosomally normal. Best wiahes and thank you for writing. Dr T

   

• At Mon Oct 06, 12:35:00 PM 2008,  Anonymous said…

  Dr. T,
  I recently had the ultrascreen test with negative results: NT 1.6
  nasal bone present
  PAPP A .82 (40%)
  free beta hcg .35 (2%)
  I'm 38. My down's risk was 1:2741 and my trisomy 13/18 was 1/942. However should I still be concerned with the low hcg? I can't find much in my internet searches. I hardly see anyone posting comments here about low hcg where everything else is normal.

   

• At Mon Oct 06, 01:41:00 PM 2008,  Anonymous said…

  Dr. T, I posted a note on 10/4/08, had an ultrasound again today one week after my NT testing and the Dr. said that he is getting a reading of 2.1 NT and that last weeks test of 3.6 was probably not as accurate as today's because the positioning of the baby wasn't as good last week as it was today. (today I am 13w1d) I was there today to do a CVS and decided against it because I am Rh neg/sensitized and I don't want the placenta touched because I have low titers and don't want to disturb those numbers. My question is this, I plan to do an Amnio in almost 3 weeks, do you think with the new NT number that my risk factor has decreased? (I was 1:46) I'm not so concerned with the DS as I am with the T 13/18. Thank you! P.S. with the information from your Blog I was able use some of the knowledge shared to have a better conversation with my doctor! THANKS! Rebecca

   

• At Mon Oct 06, 02:00:00 PM 2008,  Anonymous said…

  Dr T.-
  Below is my original post detailing my first trimester screening results. I received my FISH results back from my amnio and it was positive for Trisomy 21. One of the dangers of postponing pregnancy till later in life, I guess.
  
  Hi Dr T
  I just received my First Trimester Screening results and they are as follows:
  
  Screening done at 12wks 3 days
  NT: 3.1mm
  hCG: 1.59 MoM
  PAPP-A: .59 MoM
  My age: 41
  
  Combined risk for T21: 1 in 5
  Combined risk for T18: 1 in 41
  
  My doctor is not certified to comment on the nasal bone but did say he didn't see one. I guess I'm posting my results simply to get your professional opinion. I'm very worried, and realize I'm super high risk. My amnio is scheduled for next week.
  
  Tue Sep 23, 11:09:00 AM 2008

   

• At Tue Oct 07, 03:50:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Oct 6: You are right. There never seems to be much information on low hCG. hCG is made by the placental trophoblasts, so my cocern would be that you might have a smaller placenta than 'normal' at this gestational age. Whenever one gets maternal serum markers that don't fit the expectations, it is always prudent to carefully follow the fetal growth and development. Remember too that first trimester screening does not pick up all chromosomal abnormalities and you might consider having an amnio done if there is any indication of a growth problem or suggestion of fetal abnormalities by ultrasound later in midtrimester. Good luck and please let us know how things turn out. Dr T

   

• At Tue Oct 07, 06:38:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Rebecca Oct 4: Those are both very low levels of hCG and PAPP-A. Futhermore the NT measurement is increased. Even though the baby came from a 23 year old egg donor, there is a very high likelihood of either a chromosomal abnormality or very poor placentation (or both). If the numbers you have reported to me are accurate, there is probably a poor prognosis for your pregnancy, but hang in there and let's see what happens. We will all be pulling for you. Regards, Dr T

   

• At Wed Oct 08, 05:22:00 AM 2008,  Anonymous said…

  Hi Dr.T, your website is very informative and help. Thank you very much for creating a website like this.
  
  i know you have explained many times the scenario like mine. But could you check my NT Scan results and blood results and give me a feed back. I am 29 years old and have a 2 year old baby girl without any complications. I am a non-smoker and a non-drinker
  
  I went for scan on 13w4d and the results are as follows:
  
  
  NT 1.7mm
  Free beta Hcg 0.272MoM
  PAPP-A 0.277MoM
  
  The results read as increased risk for Trisomy 13 + 18.
  
  Do you think that i am having a abnormal baby?
  What is the normal reading for free beta HcG and PAPP-A

   

• At Thu Oct 09, 05:15:00 PM 2008,  Anonymous said…

  Dr. T.
  
  This is anonymous from Sept 22nd.
  
  Thank you so much for your post. I have been getting little information from the genetic counselor who gave me my results and the internet (aside from you and your site) has not helped either.
  
  I am actually having an amnio on Monday b/c I am very nervous (this is my first baby - I suffered one early miscarriage as well).
  
  Hearing you say, "The NT and the PAPP=A are within range of normal variation and the hCG is modestly elevated" has allowed me to relax somewhat. I truly appreciate the time you take to respond to all of us.
  
  Many thanks, Dr. T.

   

• At Sat Oct 11, 12:56:00 PM 2008,  freepam said…

  Hi Dr T., Thanks for helping me! Here are my stats:2/17/1970 age 38, bloodwork taken at 10 weeks 2 day,ultrasound at 11 weeks 2 day. due date is 4/29/08.conception on Aug 6,2008 non smoker on armour thyroid taking 4 grains per day.Maternal weight is 132 Free Beta .32 (2nd Percentile) Papp-a mom .40 (10th Percentile) Delta NT :-0.15 NT(mm)1.1 CRL(mm)47.8 GA@us:11w3days(off +one day based on my personal conception date) GA@draw 10w3 days (CRL) So my question is how concerned should I be? CVS is scheduled for a week and a half. Are results affected by any factors?How much of an issue could there be with the placenta? Can taking extra vitamin supplements affect the numbers? IE was taking extra antioxdants and vitamin e. I looked at my previous results from last pregnancy and info show me at 30%for both hcg and pappa. Good pregnancy last time,baby was 8.8 pounds. Only issue was that BP went up during last 2 weeks but no signs of preeclampsia. THANKS YVETTE

   

• At Thu Oct 16, 04:07:00 AM 2008,  Anonymous said…

  Hi Dr.T,
  
  I posted a comment almost 2 weeks ago. could you please approve the comment and give me a feedback

   

• At Fri Oct 17, 12:20:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Yvette: You didn't actually give us the composite results of the risk assessment, but I am betting those values (and your age) put you at high risk for trisomy 18 - often a lethal chromosomal abnormality. At this early gestational age, I would certainly recommend the CVS. Incidentally, careful with the vitamin E and antioxidants. I doubt they have had any effect on your results, but later in pregnancy, excesses of these could be harmful to the baby. Best of luck with the results from the CVS and let us know how things turn out. Dr T

   

• At Sat Oct 18, 02:25:00 AM 2008,  Anonymous said…

  Dear Dr. T, I am 42 years old. I have a healthy daughter of 9 yrs. I have had 3 miscarriages over the last 2 years, and the last one of diagnosed trisomy 21. I would like to keep trying for another baby but am now very worried about the reoccurance risk for trisomy 21 or worse. Would you advise that I opt for the IVF route combined with PreImplantation Genetic Screening? Would this help to guard against chromosonal defects causing further miscarriages or trisomy defects? Thanks

   

• At Sun Oct 19, 08:03:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Sept 23: For some reason, I just received your comment from Healthline. I am so sorry. I presume by this point you have received the final results and the baby most likely has Down syndrome. It would be highly unlikely that the FISH resukts would be a 'false-positive'. Kind regards, Dr T

   

• At Sun Oct 19, 11:33:00 AM 2008,  Anonymous said…

  What other reasons besides a chromosomal abnormality (T21) would cause elevated HCG and Inhibin-A levels in second trimester screening and decreased Papp-A and UE3? I keep reading examples of people with bloodwork high risk, and their baby has normal NT measurements and normal level II ultrasound. Then after an amnio, some find they have normal chromosomes. What are some other causes of the increased bloodwork risks then? I don't understand.
  
  Also, why are there around 8-10% of people that show NO increased risk in their bloodwork (false negatives) in the first and second trimester but end up with Down Syndrome babies at birth? How come they are completely missed during the screenings, and why does bloodwork seem so unreliable sometimes?
  
  Sorry about the long questions. Thanks, from Just Wondering

   

• At Sun Oct 19, 11:35:00 AM 2008,  Anonymous said…

  What other reasons besides a chromosomal abnormality (T21) would cause elevated HCG and Inhibin-A levels in second trimester screening and decreased Papp-A and UE3? I keep reading examples of people with bloodwork high risk, and their baby has normal NT measurements and normal level II ultrasound. Then after an amnio, some find they have normal chromosomes. What are some other causes of the increased bloodwork risks then? I don't understand.
  
  Also, why are there around 8-10% of people that show NO increased risk in their bloodwork (false negatives) in the first and second trimester but end up with Down Syndrome babies at birth? How come they are completely missed during the screenings, and why does bloodwork seem so unreliable sometimes?
  
  Sorry about the long questions. Thanks, from Just Wondering

   

• At Mon Oct 20, 01:13:00 AM 2008,  SF said…

  Dear Dr T,
  I am 42. I have a healthy 9 year old daughter. I have had 3 miscarriages - one in Dec 2006, another on July 13th 2008 afterwhich I got pregnant again on July 31st 2008 and miscarried the last baby at 12 weeks after the baby was diagnosed trisomy 21 (with malformed heart) by CVS. I desperately want to have another child but am now terrified of another trisomy diagnosis. Should I consider IVF with Preimplantation Genetic Screening? Is my risk of another trisomy baby higher than the 1:39 for my age group?

   

• At Tue Oct 21, 06:41:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Just wondering: The answers to all your questions rest in one response: these tests are simply screening tests - they are NOT diagnostic tests. Screening tests are designed to pick up a large percentage of the abnormalities you are looking for, but the trade-off is a 'false-positive rate' and usually a lower false negative rate (if it is a good screening test). Remember, you were given a 'risk estimate based' on your values compared to other wonmen who did and did not have babies with Down Syndrome. The fact remains, there are lots of other reasons (including many we don't understand) that the serum markers may be high or low or increase your risk for a baby with Down syndrome when the baby does not actually have it. Remember, even a woman with a 1 in 2 risk has a 50% chance of having a normal baby! Thanks for reading. Dr T

   

• At Tue Oct 21, 06:45:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To SF: at age 42, your chance of having a recognizable pregnancy with a chromosomal abnormality in first trimester based on age alone is 1 in 32 for Down syndrome and 1 in 17 for all chromosomal abnormalities. The chance of conception of a chromosomally abnormal baby is even higher than this. IVF with preimplantation genetic diagnosis gives you a gretaer selection of conceptuses that can be screened for a chromosomal abnormality and allows implantation of the embryos that appear normal - this increases your chance for a chromosomally normal and successful pregnancy. However, it is VERY expensive. Hope this answers your questions. Dr T

   

• At Wed Oct 22, 07:23:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Oct 8: Both of your serum markers are VERY low. That often accompanies a small or poorly functioning placenta and is often seen with trisomies 18 and 13. So, your baby could have a chromosomal abnormality, it could be chromosomally normal with an abnormal placenta, or it may NOT have any problems whatsoever! Remember, the tests are part of a SCREENING test and NOT a DIAGNOSTIC test. Even some women with very abnormal tests will have perfectly normal pregnancies, just as some women with normal tests will have abnormal pregnancies! You need to look at the risks you are given and try to decide what else you need to know at this point. I cannot make that decision for you. Best wishes and let us know how things turn out. Dr T

   

• At Sat Oct 25, 05:58:00 PM 2008,  Anonymous said…

  Dr T, I had the ultrasound for DS and then the ultrascreen. I am 35 and I was told my chances for DS are 1 in 5000 and very low for the other trisomies. Im still panicky. Basically my u/s results were good, was told nuchal was lower than average and with regards to ultrascreen, the beta HCG was high and the PAAP was high, I was told this helps rule out other trisomies and I guess with regards to Down, the ultrascreen and ultrasound were enough for the results they cited. I cant remember which was which but was told one was 80th percentile and one was 90th, referring to PAAP-A and beta hcg. I guess Im still terrified about BETA hcg as I know high beta hcg is a marker for downs. How much of a marker is it and when is it a marker, percentile wise? Also, in the undetected cases of Downs, is there a reason (such as less severe) why it isnt picked up? just curious. Im not getting an amnio because Im scared of even the very low probability of harming baby but Im still panicky about having higher beta hcg, although I guess that would explain why Im still queasy into second trimester.

   

• At Sun Oct 26, 08:37:00 AM 2008,  Anonymous said…

  Dear Dr. Trofatter,
  I had my FirstTrimester Screening at 12.5 weeks. The baby measured bigger (13.4 days) so they are assuming I am almost a week further along - but did not chnage my due date (4/30) becasaue they said it wasn't enough to make a difference. Based on the combined results - they are giving me a 1 in 2 risk assessment for Down Syndrome (50%). My levels were as follows:
  
  NT: 2.6 (1.66 MoM)
  PAPP/A: 2.47 (.69 MoM)
  hCG (1T) level: 185.9 (3.05 MoM)
  CRL: 75.1mm
  
  Also my age is 37, this is my 1st pregnancy. Also, they said they DID see a nasal bone -- BUT they also said they DO NOT factor the nasal bone presence into the risk assessment becasue it is considered to be "controversial" so it has been discounted. I realize these numbers put me at great risk becasue of the combination - so we have scheduled an amnio for 16 weeks. It also seems that the high hCG is the number that is the most alarming. My questions are -- are there any other reason for the levels (especially the high hCG) to be off beside Down Syndrome? And also, do you agree that the presence of a nasal bone is irrelevant. One other thing that is prov=bably irrelevant is that they said my placenta is attached in the front on the uterus -- could that be a factor in my hCG numbers.
  
  Thank you. Hope430

   

• At Mon Oct 27, 03:55:00 AM 2008,  Anonymous said…

  Hi Dr.T,
  
  I posted my message on Oct8 as anonymous. Thanks for giving me the feedback.
  
  The doc's report after the scan says that my placenta looks normal. Anyway i have dont my amnio on 23rd oct and waiting for its result.
  
  Will let you know once i get the feedback.
  Regards
  CJ

   

• At Mon Oct 27, 10:11:00 AM 2008,  Hala said…

  Dear Dr. T,
  Thank you for this site. I am 29. I did a screening on 12 weeks and a 1/2 and i have a down syndrome risk between 1/101 - 1/ 1000. I dont understand this huge range. Nor do i understand the percentiles indicated below of 90 and 20. I have read your answers previously and they have shed some light. But i would like your feedback. also what is the best course of action - for the earliest detection - (since i am more willing to terminate the pregnancy earlier than later - if need be.) I am scheduled to go again at 15 weeks for more blood tests. These are my results. Please help. Thank you so much. Hala
  
  NT (mm): 1.6
  CRL(mm) : 58.7
  GA @ U/S: 12 w2d
  
  free Beta HCG (MOM): 2.06
  Percentiles: 90
  
  PAPP A MOM: 0.56
  Percentiles : 20
  
  Delta NT: +0.08

   

• At Mon Oct 27, 01:38:00 PM 2008,  Anonymous said…

  Dear Dr. T
  Thank you for this blog. I did a screening at 12. I was told I'm at a secondary risk of having a baby with Down Syndrome. I have to go for more blood tests at 15 weeks. I would like your feedback and recommendations. Should I go for a CVs or amino right away - I am interested in finding out the soonest possible since it will inform my decision on terminating the pregnancy. Waiting until 15 weeks and then if i find out that i am still at risk - having to wait another few weeks for the amino results is too late for us as Muslims to terminate. By looking at my results what can you tell me? Thanks a million.
  
  Free Beta HCG MOM: 2.06
  Percentiles: 90.
  
  PAPP A MOM: 0.56
  Percentiles: 20
  
  NT(mm): 1.6
  CRL (mm): 58.7
  GA@U/S: 12w2d
  GA@Draw: 12w2d
  
  Hala

   

• At Mon Oct 27, 01:41:00 PM 2008,  Anonymous said…

  I wrote earlier asking about the eraliest options to determin whether my baby is at high risk of DS. I forgot to mention - my age. My age is 29 years old. Thanks a million. Hala

   

• At Thu Oct 30, 01:12:00 AM 2008,  Anonymous said…

  Hi Dr. T, i am the anonymous from Oct 8. The following readings are from my 13th week nuchual scan and blood test.
  NT 1.7mm
  Free beta Hcg 0.272MoM
  PAPP-A 0.277MoM
  
  i did amino on my 16th week and got my preliminary result which says that i dont have any chromosomal abnormality. my gynea ruled out pre-eclampsia because she said my pressure is very normal which leaves me with other two options like IUGR or placenta dysfunction.
  But my gynea again ruled out both saying that my amnotic fluid and placenta looks perfectly fine.
  
  Do you think i am fine?
  Another worry is that the count for alpha fetaprotein is 8000 and i am indian.
  
  Do you think that count is fine?
  
  Regards
  CJ

   

• At Thu Oct 30, 09:07:00 AM 2008,  Anonymous said…

  Hello Dr.T,
  
  I am writing agian in regards to the results I received from my first trimester screening. I was hoping that you might be able to give me some insight into the numbers. I was also wondering if there would be any other reason for the risk factor being what it is. for example, Intrauterine Growth Retardation. My half sister had one pregnancy where this was an issue. I am not sure if that would have any bearing on my situation.
  I understand the percentages involved but I don't know if my numbers are terrible for my age. I have an amniocentesis scheduled for next week but I am pretty scared.
  
  I am a 37 year old nonsmoker and I will be 38 upon delivery. I'm in good health.
  First Trimester triple screen was done during the 11-12 week period
  NT: 3.0
  Beta HcG: 0.81 ,50th percentile
  Papp-A: 0.43, 10th percentile
  
  I would appreciate any insight you could provide.
  
  Thank you, Ashley Z.

   

• At Thu Oct 30, 09:14:00 AM 2008,  Anonymous said…

  Hello Dr.T,
  
  I am writing agian in regards to the results I received from my first trimester screening. I was hoping that you might be able to give me some insight into the numbers. I was also wondering if there would be any other reason for the risk factor being what it is. for example, Intrauterine Growth Retardation. My half sister had one pregnancy where this was an issue. I am not sure if that would have any bearing on my situation.
  I understand the percentages involved but I don't know if my numbers are terrible for my age. I have an amniocentesis scheduled for next week but I am pretty scared.
  
  I am a 37 year old nonsmoker and I will be 38 upon delivery. I'm in good health.
  First Trimester triple screen was done during the 11-12 week period
  Screen Positive for Trisomy 21
  Risk: 1 in 9, 11%
  NT: 3.0
  Beta HcG: 0.81 ,50th percentile
  Papp-A: 0.43, 10th percentile
  
  
  I would appreciate any insight you could provide.
  
  Thank you, Ashley Z.

   

• At Sun Nov 02, 08:36:00 PM 2008,  Anonymous said…

  I'm hoping you can help me interrupt my results because this is my first pregnancy and I am scared. My first trimester screening came back with 2.05 for HCG and .4 for PAPP A. Everything I read online says down syndrome. I had an ultrasound and the peri said everything measured normally (spacing of eyes and ears, no extra fluid behind the neck, length of arms and legs, brain and heart, blood flow). he noted I had a slight low lying placenta and the baby's nasal bone was small. He also noted that my due date should be April 30 and not May 6, which was what the doctors originally thought during my first office visit/regular ultrasound. Because of my bloodwork the doctors are now saying that once I hit 20 weeks I will need to come in for office visits every two weeks to make sure the baby is growing and I don't get high blood pressure. I asked if I was high risk and they said no. They gave me a risk of down's at 1:81. My husband and I are considering amino. Could there be other reasons why I have low PAPP A and high HCG? Maybe because I'm further along since first thought? - Staci

   

• At Thu Nov 06, 06:16:00 PM 2008,  Anonymous said…

  Dear Dr T:
  
  This is from Jenny15, I will be in 38 for my due date, I just got my first screen test results back
  
  NT: 2.4mm 1.6MoM
  PAPP-A 2.34MoM
  Hcg 4.43MoM
  
  T21 risk: 1/42
  T18 risk: 1/10000
  Age alone risk: 1/94
  Cut off risk: 1/220
  
  I have read through whole blog, never saw any one has such high PAPP-A and Hcg level like mine. I had D&C in Feb this year due to baby heart beat stop at 8 week, got pregenent again in Augest. Can you share some lights on me why I have such abnormal level of blood, what possibility of my baby will have T21. It worry me to sick. I have been offered amniocentesis in two weeks, but I try to aviod, what I should do next? I am in 14 weeks now
  
  Looking forward to hear from you soon
  
  Thanks
  Jenny

   

• At Sat Nov 22, 06:42:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Oct 9: Thank you for the kind words. I hope the amnio went well and everything turned out fine. Let us know how the rest of the pregnancy goes. Bets wishes! Dr T

   

• At Sat Nov 22, 06:47:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Yvette Oct 11: Sorry for the delay in my response, but I JUST had your comment delivered to my mailbox yesterday. Even though this is after the fact, with BOTH the PAPP-A and the hCG being low, you are at increased risk for trisomy 18 or an abnormality of placentation that might increase your risk again for preeclampsia and perhaps a small baby. By now you have your test results back, so if you happen to get this response, please let me know how things turned out. Best wishes! Dr T

   

• At Sat Nov 22, 06:52:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Oct 25: Pardon the delay in my response but your comment was just delivered to my mailbox yesterday. The ncouraging ting about your results is that BOTH the PAPP-A and the hCG are at the high end of normal. It is MUCH less likely under those circumstances that your baby has Down syndrome than if the hCG was high and the PAPP-A was low. So, follow your own lead and do NOT try to dissect the individual blood tests under these circumstances. It is very unlikely that your baby has Down syndrome or any other chromosomal abnormality. Best wishes and if you get this note, please let us know how things turn out! Dr T

   

• At Sat Nov 22, 06:57:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To hope430: As I have told others recently, I apologize for the delay in my response, but I JUST received your comment in my mailbox yesterday. You probably already have your answer, but I would have told you that your increased risk is being driven by three factors: your age, the NT measuremment, and the relatively high hCG compared to the PAPP-A. If you get this note, please let me know what you found out. The presence of the nasal bone, if indeed it is there, would reduce your risk, but not enough to rely on that marker alone to defer an invasive diagnostic study. Sorry I could not be more help sooner. Kind regards, Dr T

   

• At Sat Nov 22, 07:02:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Hala: I am sorry, based on those results, the laboratory should have given you a risk estimate, not a range of numbers. So, I do not know how to interpret their reading of these results. I am encouraged by the normal NT measurement. The hCG is modestly elevated compared to the PAPP-A but in your caes, I do not think this will dramatically increase your risk for Down syndrome. I apologize for the delay in my response, but I just received your comment in my mailbox yesterday. If you get thos note, please let us know how things turn out. Best wishes for the rest of the pregnancy! Dr T

   

• At Sun Nov 23, 06:21:00 PM 2008,  Anonymous said…

  Dr T,
  
  Thanks for the time you put into this very informative site.
  
  I'm 34 with 2 previous healthy pregnancies (both girls) and am pregnant with my 3rd.
  
  My numbers for the combined screening were as follows:
  
  NT: 1.6mm
  PAPP A: 0.44
  bHCG: 1.1
  
  My risk was 1 in 590. Given the risks for my other pregnancies were in the thousands and my ob has delivered 2 T21 babies this year where the mother had similar odds to mine, I have decided to have an amnio.
  
  I just have 2 questions:
  
  1. when giving my weight, I realised afterwards that I had underestimated it by 6 kg (wishful thinking perhaps!); and
  
  2. there was a mix up in performing the blood test so that it didn't end up being performed until 9 days after the sample had been taken.
  
  I am just wondering whether these last 2 factors could have effected the PAPP A results?
  
  Thanks Lara

   

• At Wed Dec 17, 04:51:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To CJ Oct 30: Sorry for the delayed response, but I just got your question this week. Congratulations on the amnio result. This is still too early in the pregnancy to say you don't have or will not develop preeclampsia. You do have very low hCG and PAPP-A levels and so you are still at increased risk for having an abnormality of placentation, not visible in midtrimester, that may put you at risk for fetal growth restriction and/or preeclampsia later in the pregnancy. I would be even more concerned about that possibility if the AFP level is elevated. As always under these circumstances, I hope everything turns out fine, so please stay in touch with us and let us know if you get this response. Best wishes! Dr T

   

• At Wed Dec 17, 04:55:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Ashley Z Oct 30: I am sorry, but I just now received your question in my mailbox this week, so I probably will not be much help. But, I was very concerned by both the relatively wide NT measurement and the fact that even though the hCG is in a 'normal' range, the PAPP-A is relatively low. This does increase your risk for a baby with a chromosomal abnormality. I pray the amnio went well, and I hope my fears are not realized for you. Please let us know how things turned out if you do receive this response. Regards, Dr T

   

• At Wed Dec 17, 05:00:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Lara: Sorry for the delay in my response but I have not been getting the comments from my readers in a timely or consistent fashion. With the composite risk assessment, the odds were still much in your favor that the baby is fine and I hope the amnio documented that! The 6 kg weight difference would probably not have made much of a difference unless that is a large percentage of your total body weight. The delay in running the sample probably would have made little difference either (although I cannot be completely sure about that) because the assays are usually done on the dried blood specimen. Anyway, I hope things have turned out fine and if you get this response, as late as it is, please let us know. Best wishes for the rest of the pregnancy! Dr T

   

• At Wed Dec 17, 05:41:00 PM 2008,  Anonymous said…

  I just have a question about the actual u/s...I don't have the blood work back yet. First of all, I drove an hour to get the test done up at the University Hospitals, so it should be decent technology. The tech didn't tell me what she was looking at, didn't appear to be measuring anything other than the heartbeat and the NT, and when I asked for her to guestimate the sex, she acted like I was insane. She said there was no way anyone could determine gender at 13 weeks...which I've found on various blogs and message boards to be very untrue. I asked her if there was a nasal bone and she said that there was but she didn't measure it...then when I asked where my placenta was (because my last preg we were worried about placenta accreta) she said 'in front', and I said 'oh no, anterior?' and she said 'the placenta can be anywhere' and that was it. Then I asked for the NT measurement when we got done because they never mentioned it and she said '1.6'. I said 'good!' and she said 'WHY?' I explained that from what I understood that number was okay and she said in a rude way that a lot of factors go into the risk factor. I know that, but I still felt like I could be happy with the one measurement I knew. Anyway-should I be worried that they didn't do enough or that they weren't very explanatory to me throughout the scan? Every other person that has this scan that I've heard from has had such a great experience as far as information gathered. I just feel sort of cheated!
  
  Thanks-
  Deb

   

• At Fri Dec 19, 11:17:00 AM 2008,  Jill said…

  Dear Dr T, I am currently 34 years old and 14 weeks pregnant with my first. My NT and bloodwork was done at 12w2d. The CRL was 60.7, NT 1.15, HcG 1.43 MoM, PAPP-A 0.19 MoM and Neural Translucency 0.77 MoM. I was given a 1:46 for Downs.
  My question is whether this having been and IVF cycle and having had a subchoronic bleed (detected on u/s at 6w6d, no longer detected at 11w5d, bleeding and spotting from 6w5d to about 10 - 10.5 weeks) could have affected the results. What influence if any these issues could have had. I'd greatly appreciate any help. I have scheduled a genetic sonogram but don't want to risk a amnio. I also wondered whether the results put the baby at risk for a premature labor or anything other that downs. My risk for T18 was 1:390.
  
  Jill

   

• At Thu Dec 25, 09:53:00 AM 2008,  TVB said…

  Dear Dr T, I am MRS TVP 26 yrs old .I Had a normal NT at 11+4 days scan. My biochemistry done on the same day was abnormal
  HCG- 2.57 MoM
  PAPP-A- 0.23 MoM
  The risk assesment given based only on biochemistry is 1/55 which is high risk.My questions are would the risk have been lower if the NT scan was taken into consideration? I am now 13 wks should I do a triple at 16 wks or proceed directly for an early amniocentesis. What are the chances that this will be a downs baby ? Thank you I hope you will help me to take the right course.

   

• At Mon Dec 29, 01:59:00 AM 2008,  Superspeedster said…

  Dear Dr T,
  Thank you so much for your informative web-site!
  
  I am currently 31 years old and am assessed as 'high risk' upon my 1st trimester nuchal screening test, mainly due to the extremely low level of PAPP-A.
  
  Could you please advise what are the implications of such readings and the risk factors? What are the chances of chromosonal abnormalities such as Down's Syndrome? What about other growth retardation factors-how high are my risks, and how can i screen or monitor them?
  
  The results of my prenatal screening report are as follows. I would very much appreciate your advice for I am frantic with worry, and don't understand how my baby can look so normal during ultrasound scans (normal growth development and activity, arms and legs in normal slightly bent position in foetal position and not at awkward angle etc)!
  
  Gestational Age: 11 weeks 6 days
  CRL: 53.2mm
  Nuchal translucency: 1.10mm
  Maternal serum Free Beta-hCG: 55.400 IU/I 1.1118 MoM
  Maternal serum PAPP-A: 0.390 IU/I 0.1698 MoM
  
  Adjusted risk for Trisomy 21- 1:61
  Adjusted risk for Trisomy 13/18- 1:98

   

• At Mon Jan 05, 02:09:00 AM 2009,  Anonymous said…

  Dear Dr. I am 36 years old and 17 weeks pregnant with my first pregnancy. I have just received my results from the maternal serum screening test which are as follows:
  
  NT 1.8mm (MoM 1.09)
  HCG 55.11ng/ml (MoM 1.99)
  PAPP-A 1792.34 Mu/L (MoM 0.66)
  
  I have been given a risk of 1:484 which is lower risk than the average for my age. I am just concerned from reading comments on your site that a higher HCG combined with lower PAPP-A result can indicate Down's Syndrome. Are there any further non invasive tests I could get to give me more information or would it be worth considering amnio? Thanks.

   

• At Wed Jan 07, 02:46:00 PM 2009,  Anonymous said…

  Dear Dr T,
  
  Thank you for posting such a valuable and informative site.
  
  1. Is there reliable data to suggest a correlation between baby gender and low PAPP-A? I've read there is a link with boys...but how accurate or reliable is that?
  2. Do we know if exercise impacts PAPP-A levels?
  3. Is an hcg = 1.59 really that high?
  4. What is the combined risk of having both an amnio and a CVS?
  
  After receiving the below ultra-screen results, I had a CVS at 13w, 2 d. The GA is based on my US, though I think I am further along based on LMP.:
  
  NT: 1.7 (delta +0.12)
  hCG: 1.59
  PAPP-A: 0.27
  Nasal bone: present (though not included in calculation)
  DS risk: 1/27
  T18/13 risk: 1/5261
  age: 37 (38 @ delivery)
  
  
  Unfortunately the CVS was inconclusive as they only found maternal cells. Baby looks great by US and is active. But, now I'm faced with the decision to have an amnio. Honestly, after the risk (and unpleasant CVS) I'm starting to wonder if the added risk of an amnio is worth it given the chance of DS is 96%. After reading so much, it sounds like low PAPP-A can mean many things.

   

• At Mon Jan 12, 07:22:00 AM 2009,  Anonymous said…

  Hi, Dr. T.
  
  I'm interested in your comments. I was 42 year old when I conceived and will be 43 when I deliver. Between ages 38 and 40, I had 5 failed IVF attempts. Since then, I've had 3 early miscarriages (between 6 and 8 weeks). This baby was conceived naturally.
  
  The results of my first trimester scan at 12w3d are:
  NL 1.2 mm
  beta-HCG 1.04
  Papp-A 0.28
  
  I was given a risk assessment of trisomy 21 of 1:78. For trisomy 13 and 18 of 1:1000.
  
  IS the low Papp-A results more indicative of a problem than the two normal test results? Do you have any thoughts?
  
  Thank you.
  
  Janice

   

• At Fri Jan 16, 03:09:00 PM 2009,  Anonymous said…

  HI
  I am 39 and just had my risk assessment, my nuchal translucency was 1.6 and nasal bone was present but my HCG was 2.63 MOM and my Papp A was .61 Mom, putting me at risk of trisomy 21 1/36. Would you reccomend an amniocentesis? Also would the high HCG explain my severe nausea?
  thanks

   

• At Wed Jan 21, 11:00:00 AM 2009,  Anonymous said…

  Dear Dr. T, I am 35 yrs old and have been told I have a 1 in 32 chance of trisomy 21. I have two other children at home both born via c-section d/t failure to dialate. My first trimester screen showed my PAPP-A= .58(MOM)
  Free beta HCG= 3.93(MOM)
  Nasal bone present
  NT= normal I can't remember the #
  I currently weigh 111 lbs., and just prior to getting pregnant had lost 40 lbs. in about six months d/t diet and exercise. I have been exposed to second hand smoke much of my life. Do you think my levels may be off d/t my recent weght loss and exposure to second hand smoke? I have an amnio scheduled next week. Thank-you for your great blog

   

• At Tue Jan 27, 12:57:00 PM 2009,  Anonymous said…

  Dr. T- I am 33 and pregnant for the second time (21 weeks), with a healthy toddler at home! I have had a number of "odd" results on ultrasounds and tests, and was wondering if you know of anything that could explain these occurences together. At my 12 week NT scan the dr. (not my regular OB) immediately pointed out an enlarged fetal bladder. CRL was normal (as were NT and most blood tests it turns out) and bladder was probably 1/4 - 1/3 of the size of the baby. I had a follow-up level 2 ultrasound with a perinatologist 5 days later and the bladder was normal, filling and emptying, etc... apparently nothing wrong. Going back to my normal Dr. she told me I had low PAPP-A and would carefully monitor growth. I recently had my 20-week anatomy ultrasound with the peri and she mentioned that I had very borderline increased fluid on the kidneys (everything else was fine, size good, etc...), and that it happens frequently, but can be a soft-market for Downs syndrome. I did have a sequential screening for Downs that put my risk at 1/9000 and also very low risk for other chromosomal abnormalities. The peri said the finding of fluid on the kidneys would only increase that risk to something like 1/6000. All-in-all seems like very low risks, and I shouldn't be worried. But could everyone be missing something else that all these things together might indicate? 3 different doctors have seen 3 different *issues* and I am concerned that not all the information is being put together, that is: i) 12 week enlarged bladder, ii) low PAPP-A, iii) slightly elevated fluid on the kidneys. I am generally pretty calm about this, but find myself worrying about it recently!

   

• At Wed Jan 28, 09:26:00 PM 2009,  Meg said…

  Dear Dr T. I am 32 years old and have just had my results back for my Nuchal screening and blood tests. They are:
  NT: 2.3mm
  Beta HCG: 2.654
  PAPP-A 0.382
  CRL 64.9mm
  Skull/brain, abdominal wall, spine and nasal bone all appear normal.Stomach, bladder, both hands and feet are seen. My percentage for Trisomy 21 is 1/23... I am 12w5d currently. Going for amnio on 15th Feb. Can you please give advice on what the HCG and PAPP-A are as I have no idea if they are low or high. I am not booked to see my OB until one week from tomorrow and I'm a bit worried. Thank you for your time it is much appreciated! Regards, Meg.

   

• At Tue Feb 10, 07:45:00 PM 2009,  Anonymous said…

  Dr. T, I am 36, first pregnancy, natural conception, no known medical issues. 1st trimester screening at 11 weeks returned 1/65for Down Syndrome, 1/55 for T-18. Nuchal transparency was 1.2 and nasal bone detected. Am told the PAPP-A measures less than third centile. Scheduled for CVS end of this week, although a week ago they could not perform CVS due to placental position being too risky and so did the screening test instead. Can placenta really move enough in 1 week to allow for test? And can placenta position itself be indication of an issue/concern? Less than 3rd percentile for PAPP-A just sounds difficult to overcome - am I putting too much stress on percentiles? Thx for your assistance.

   

• At Thu Feb 12, 10:39:00 AM 2009,  samhenri said…

  I am 39 yrs old and will deliver just shortly after I turn 40. My first trimester screening results were as follows:
  
  Baby measured at 2 inches
  Fetal age confirmed at 11 weeks 6 days, exactly where I thought I was at.
  
  Nucleal Fold - 1.1
  PAAP-A - .6
  HCG - 1.5
  
  I was thrilled with the nucleal fold results. But dissapointd with the results of my blood work. My genetic counseler called to tell me the good news was that I reduced my odds of having a baby with downs from 1 in 87 to 1 in 184, which apparently is still an increased risk overall.
  
  I am curious of your thoughts on these results and what other reasons could be the basis for the blood work results. The images we got from the ultrasound were great, I can clearly see a nose and even joked that it might be a bit big. I only comment as I note this is a trait that is looked at.
  
  Thank You.

   

• At Mon Feb 23, 06:14:00 AM 2009,  Anonymous said…

  Dear Dr T,
  
  This blog is so helpful - there are a lot of very scared pregnant mothers out there and this website is a Godsend. So for my query:
  
  At 12 weeks
  Nuchal Measurement: 2.2
  Nasal Bone present
  HCG:1.58
  PAPPA:0.375
  
  So worried as this places me with a ratio of 1/25 of having a Downs baby. Effectively a 4% chance which although doesnt sound too bad, compartively to overall risk it appears terrible. Going for a CVS tomorrow and sick with worry. If the results come back normal (and please God they will), what other reasons could there be for a low pappa and high hcg?
  
  Thanks

   

• At Mon Feb 23, 06:56:00 AM 2009,  Anonymous said…

  Hi Dr. T,
  
  I am hoping that you can shed some light on my situation.
  I am 31 and have an increased risk for Trisomy 21 based on My NT/blood tests.
  12w0d
  NT(mm) 2.4
  CRL (mm) 55.8
  hCG (MOM) 2.63 95 percentile
  Papp-a MOM 1.58 70 percentile
  Delta NT +0.94
  My chances after the screening are 1/229 for Down Syndrome.
  I am wondering if I should put my baby at further risk for the amnio. I am now 15+ weeks and need to make a decision quickly. I am waiting for the modified sequential blood work back. How much further information will a modified sequential provide?
  Thank you for your help,
  Kim

   

• At Thu Feb 26, 02:30:00 PM 2009,  Anonymous said…

  Hello Dr.T,
  
  I am 30 years old, just had my NT scan at 12 weeks, 3 days. The NT was "normal" with a down syndrome risk of 1/3,341. However, my biochemical test (finger prick done at 10 weeks 4 days) shows a very low PAPP-A MoM of 0.31. Free Beta MOM is 1.39. My combined risk for DS (biochemical plus NT) is 1/270 which according to my institution puts me at high risk. I am considering CVS next week vs. amnio at 16 weeks. I am also very concerned about the low PAPP-A value and risk for IUGR, etc. Do you have any advice? Should we retake the PAPP-A & Free Beta blood tests?

   

• At Sat Mar 14, 07:45:00 AM 2009,  Denise said…

  Dear Dr T
  
  I am 31 years old and this is my first pregnancy. I have just had an OSCAR test at 12 weeks and 4 days and am concerned about my results as my free HCG figure seems to be quite high and was told by the consultant that my PAPP-A figure is on the low side.
  
  Results:
  
  CRL: 62mm
  NT: 1.8mm
  Free HCG: 1.702MoM
  PAPP-A: 0.472MoM
  
  Maternal age-related risk: 1:726
  Adjusted risk: 1:589
  
  Whilst it was emphasised that I am in the low-risk category the consultant did seem concerned about my low PAPP-A result which in turn has worried my husband and me. My husband is keen for us to have an amnio done just so we can be 100%. I'm not keen because of the risks of miscarriage however I have read that a low PAPP-A is quite an effector indicator of Downs' syndrome and am worried by this. I would be grateful for your opinion on my results and any advice that you could provide with regards to further screenings.
  
  Many Thanks
  
  Denise

   

• At Tue Mar 17, 08:50:00 AM 2009,  Anonymous said…

  DEar Dr T, I am Julie, I will be 37 when delivery. It is my second pregnancy. The first was with no vaginal delivery with gestational hypertension, forcep. Baby was healty,perfect - 3.5kg. He is a healthy boy now. Yesterday I had my 1st trisemster USG with normal result such as
  NT:1.4mm BPD: 18.7mm CRL: 50.1mm nasal bone present, and visible hands feet stomach. However, my blood work increase my cromosomal anomaly : Free beta-hCG 0.886 (MoM) and PAPP-A 0.261MoM (which quite low). So they said I have risk trisomy 21 about 1:60.
  SHould I go through to Amnio. I really don't feel comfortable with the amnio test? Do you think it is still necessary to take it though there is no history on DS occurrence in my family which may reduce the risk. Please advise. I fully appreciate your support. Thanks again.opicaliv

   

• At Mon Mar 30, 10:33:00 PM 2009,  Anonymous said…

  Dear Dr T
  
  I am currently 33 and 13 Weeks now.
  This is my 2nd pregnancy.
  
  I had just had my NT scan and blood test results. But the risk factor does not seems much favourable
  
  NT Thickness : 0.69mm
  Nasal bone : Detected
  fb Hcg : 2.19MoM
  PAPP-A : 0.32 MoM
  Age risk : 1: 365
  Cutoff factor : 1: 250
  My overall risk for trisomy 21: 1:150
  
  I am a PCO patients who has been constantly taking Metformin. Wonder if it affects the results?
  
  I am also found to have a cyst (3mm) on my left ovaries.. Does it post as a threats to the readongs?
  
  Really need your advise as to is Amnio Test is feasible as I am trying to convince myself 93.33% that my baby is sure to be alright.
  
  But I really need a professional advise.
  
  Thanks alot ~ Andrea (Singapore)

   

• At Tue Apr 07, 02:37:00 AM 2009,  Anonymous said…

  Dear Dr T, I think this is a wonderful site, thank you. I am writing to try and clarify whether or not to have an amnio. I'm 39 years old and here are my results;
  
  NT 1.3mm
  Nasal bone present
  Free beta HCG 1.1000 MoM
  Papp-a 0.7700 Mom
  I was given a risk of 1:1575 for DS and 1:3583 for Trisomy 13/18. I know these results are considered low risk but I'm still concerned. This is my first baby. Any comments would be much appreciated.

   

• At Tue Apr 07, 02:14:00 PM 2009,  preggo said…

  Dear Dr T,
  
  i am 26 yrs old and had a blood test at 10+2 weeks. The NT scan was perfect. How due to the and isolated abnormality of the PAPP-A being abnormal (0.389IU/L or 0.2346 MoM) i was given a risk of 1:154 and thus offered CVS. From my understading the blood test and scan should all occur b/w 11-13 week. In light of age and other normal results i feel that i should ask for a repeat blood test to reassess my risk before i take a procedure which will invariably increase the mortality and morbidity of my baby. Is there any merit in this?

   

• At Sat Apr 11, 09:11:00 AM 2009,  claire said…

  Dear Dr T,
  Please can you help me with my NT results, made at 12+6? Although I have a very low risk of DS (1:2800), my PAPP-A level is on a lower side. I am 29, NT = 1.2; hCG = 1.3034 MoM, PAPP-A = 0.6475 MoM. I had a haematoma which bled throughout week 11. It is an IVF pregnancy, I was taking progesterone pessaries until the 12th week. Should I worry about the PAPP-A levels and do I have any risks in second and third trimesters?
  Thank you in advance for your help!! Claire

   

• At Tue Apr 14, 11:38:00 AM 2009,  JC said…

  Dear Dr T,
  I am 31, and just got the results back from my combined screeing test:
  
  Gestation: 11 wks 3 days by scan; 12 wks 0 days by dates
  CRL: 46.0mm
  Nuchal measurement: 1.2mm (1.04 MoM)
  Free beta-HCG level: 113ng/mL (2.42 MoM)
  PAPP-A level: 416 miu/L (0.31 MoM)
  
  I was told that I am at high risk of having a baby with Down's Syndrome, and was given odds of 1 in 160 (at term).
  
  Are there other factors that could affect the hormone levels? (I had a cone biopsy 12 years ago, and have recently been bleeding a little, though no clots). We also have a history of low-birthweight babies in the family, hypothyroidism developing during pregnancy, as well as pre-eclampsia.
  
  I have been told that the risk of miscarrying as a result of having a CVS or amnio is 1 in 100. Since this is higher than the risk assessment they have provided for my having a baby with Down's, we are thinking of not having invasive testing, although we are considering having a private scan so as to get a second opinion.
  
  Thanks in advance for your time,
  
  JC.

   

• At Wed Apr 22, 05:42:00 AM 2009,  Anonymous said…

  Dear Dr. T, I have been reading this column over and over for several days. Trying to calm my nerves about my upcoming amnio. Below are my numbers and a few questions: These were taken at 12 weeks 6 days. I am 34.
  
  NT =2
  HCG= 1.42 MoM
  PAPP-A= 0.17 MoM
  Inhibin = 1.18
  Risk for T21= 1:35
  
  How does the Inhibin affect the numbers? Is that a measurement of Down's risk?
  
  I have Hashimotos thyroiditis and take 196mcg Synthroid daily. Could this affect my labs?
  
  I don't know if the nasal bone was seen at 12 weeks. Should I ask the peri at my amnio if he sees one or is it not important at this point (16 weeks)?

   

• At Thu May 14, 03:19:00 AM 2009,  Anonymous said…

  Hi doctor, I am 30 years old and was told of a risk of 1/36 chances of down syndrome:
  
  NT scan: 2.1mm
  PAPP-A MoM: 0.27
  hCG 1 MoM: 1.96
  
  I'm about 13 weeks and 1 day.
  
  I am totally freaked out and am going in for a CVS tomorrow. If there is any additional information about possible misreadings of my risk factor, that would be greatly appreciated. I also am scared about miscarrying from the CVS, but I feel I cannot wait and just must know.

   

• At Mon May 18, 08:02:00 AM 2009,  Anonymous said…

  Dear Doctor,
  I would love your insight. I had an NT scan and blood drawn at 12 weeks exactly. NT scan came back at 1.2. Blood work:
  MoM: 0.85
  PAPP-A: 1.13
  HCG: 1.78
  Inhibin A: 0.84
  
  DS risk: 1 in 1400
  T18 risk: <1 in 10,000
  
  I am 35 and will be 35.5 at delivery. Second pregnancy. First pregnancy went fine. Healthy daughter age 3.5.
  
  Considering amnio because I feel like I can't relax until I know for sure. Your thoughts about my results would be greatly appreciated.

   

• At Thu May 21, 01:37:00 AM 2009,  Anonymous said…

  Dear Dr. T,
  
  Thank you for this blog - It has given me lots of info and some hope. I would like to get your opinion on my 1st Trimester Screening test. Here is my info:
  
  MAEDD: 40.91
  LMP Date: Jan 26, 2009
  GA: 13 weeks, 0 days
  GA is based on CRL: 66mm
  EDD: October 29, 2009
  Fetuses: 1
  Weight: 78.5 kg
  Scan Date: April 23, 2009
  
  Test Results:
  hCGb: 57.9241 ng/mL ; Corr MOM: 1.89
  NT: 1.4 mm ; Corr MoM: 0.85
  PAPP-A: 1670.44 mU/L ; Corr MOM: 0.63
  
  Risk Assessments given:
  Age Risk: 1:100
  Calculated Risk: 1:290
  Cutoff: 1:250
  Risk Type: Risk at Term
  "Low Risk for Down's Syndrome"
  
  OK - here are a few more factors that may or may not be significant.
  
  During the ultrasound for the screening test, I requested them to look at the nasal bone, which was present, and was 1.7mm in length. However, from the looks of my report, they didn't factor that in the assessment.
  
  I am 40 years old, but will turn 41 at the end of November, so basically 41 when the baby is due. This is my 5th pregnancy. My first child was born when I was 35, perfectly normal, and at term. I never had any screening tests done with her at all. My 2nd pregnancy ended at 8 weeks because it was ectopic in my left tube. They weren't able to save the tube, and I never had it resewn - didn't want to risk another ectopic. My 3rd pregnancy resulted in a perfectly normal baby boy, born at 41 weeks 4 days in an all-natural delivery (as was my 1st child). I was 38 years old. I did the 1st trimester screening with him, and my risk assessment at that time was "low", but I cannot find my original report, so I don't have the numbers they gave me.
  
  My 4th pregnancy was recent - ended in December 2008, somewhere before my 10th week - it was a blighted ovum and I had a D&C performed right after Christmas. My husband and I conceived again, surprisingly, in the beginning of February this year.
  
  Given my history of complications, we always get early ultrasounds. My first ultrasound was at 6 weeks and my EDD was given as Nov. 2, 2009, but the screening test has my due date as Oct 29th. I am currently 16 weeks 3 days, and had an ultrasound done on 16 weeks 0 days. The growth of the baby showed it was really 16 weeks 2 days - so maybe I'm a couple days ahead.
  
  At 14 weeks 4 days, I began bleeding and a few days later the u/s showed that I have a retroplacental blood clot (subchorionic hematoma). The size given was 2.8 x 3.3 x 2.0 cm, at 15 weeks 2 days. At 16 weeks 0 days, it had increased to 1.7 x 3.9 x 4.3 cm. Obviously, I'm resting as much as possible.
  
  Due to the blood clot (which is located anterior to my placenta) I've decided against the amnio since the risk for miscarriage is greater in my case with the blood clot.
  
  When I was given the result of my 1st trimester screening test, I saw there was another report in my record that looked identical, but said "high risk for Down's syndrome" at the bottom of it. I asked the office about it, but they said it was incorrect. My Dr was not in that day, and so when I met with her the next time, I asked her about it and she said she would find out why there were conflicting reports. Also, even though the report they gave me says "low risk", my Dr said she thought that 1:290 was high. So she was confused as to the final line stating "low risk".
  
  Dr. T, I would like your evaluation of the screening results and what risk assessment you believe would be correct in my situation. I wonder also if I should try to have the MSAFP or some other testing? As I said, I do not want any invasive procedures as my risk for miscarriage is greater. However, I would like to know if this baby may have some abnormalities so that I can better be prepared should God allow the baby to be delivered at term.
  
  Thank you in advance for reading my long posting, and for your opinions.
  Sincerely, CS

   

• At Tue May 26, 04:49:00 PM 2009,  Anonymous said…

  Okay Ladies! I BEG YOU TO READ THIS!!!
  Just want to update my post from 10/08! I was so scared and wrote to Dr. T for his input. These were my numbers:
  HCG:0.43
  Papp A: .053
  Neck thickness: 3.6
  CRL: 52
  Nose cavity: visable
  Blood flow in baby: good
  Heart beat: 168
  
  This was Dr. T's response:
  
  To Rebecca Oct 4: Those are both very low levels of hCG and PAPP-A. Futhermore the NT measurement is increased. Even though the baby came from a 23 year old egg donor, there is a very high likelihood of either a chromosomal abnormality or very poor placentation (or both). If the numbers you have reported to me are accurate, there is probably a poor prognosis for your pregnancy, but hang in there and let's see what happens. We will all be pulling for you. Regards, Dr T
  
  Tue Oct 07, 06:38:00 PM 2008
  
  Today I have a beautiful PERFECT boy! Born 3/28/09 Keep the faith!!! I went for monthly and then weekly Ultrasounds and the Perinatal physician Never Found any markers!!! Trust you own doctors, they see you in person, remember this is just a BLOG!
  Rebecca in Atlanta, GA

   

• At Tue Jun 09, 01:44:00 PM 2009,  Wendy said…

  Hi Dr. T,
  I just got my test results from my 1st trimester screening and would love your opinions on some things.
  I am IVF and will be 40 at delivery. This is my first pregnancy.
  
  I do have an autoimmune condition, polymyositis, that is not active. I am ANA and Jo-1 positive as well. I am taking 12.5mg of prednisone 1xday for my polymyositis.
  
  The test was done at 12w1d. GA by CRL was 12w0d and measured 55.4mm.
  
  NT 1.5mm
  Nasal Bone present
  Free Beta MoM 0.29
  PAPP-A MoM 0.34
  
  I am negative for DS risk and positive for Trisomy 18/13 risk.
  
  My prior risk based on maternal age for DS is 1 in 84, my risk from the screen is 1 in 1661.
  
  My prior risk based on maternal age for T 8/13 is 1 in 147,my risk from the screen is 1 in 53.
  
  What additional screening would you recommend? And...
  
  If it is shown that the baby is free of chromosomal abnormalities, does my autoimmune condition paired with my low PAPP-A and HCG levels warn of issues that I should be aware or or careful of during my pregnancy? What precautions can/should I take?
  
  Thanks!

   

• At Thu Jun 11, 06:08:00 PM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  Wendy: See my last post (http://www.healthline.com/blogs/pregnancy_childbirth/2009/06/low-hcg-and-papp-in-patient-with.htmlfrom two days) (June 9, 2009) ago wherein I address your questions. If you have any more, feel free to write back. Best of luck to you and thanks for reading.
  Dr T

   

• At Wed Jun 17, 12:42:00 PM 2009,  Jess said…

  Hi Dr. T, thank you so much for all the time you spend answering all of our questions. My midwife just called me today, didn't give me levels, but told me that my NT measurement was normal (1.7), there is a nasal bone, all bloodwork is normal other than the Papp-A level. She said it is 'a little low' and started me on baby aspirin..
  
  Anything else you can tell me about the risk of something bad happening? (I know .. you don't predict the future). If EVERYthing else is normal, might this be ok in the end?
  
  I have read information about Papp-A being low, leading to stillbirth, however she assured me everything was perfectly fine and just thought it was something to keep an eye on..
  
  Thoughts??

   

• At Tue Jun 23, 03:14:00 PM 2009,  Anonymous said…

  Dr T,
  thank you so much for this wonderful blog. I have learned loads!
  My screening results today were:
  
  gest age: 11 weeks 6 days
  CRL 52.9mm
  NT 2.0mm
  BPD 18.0mm
  FHR 171bpm
  nasal bone present
  maternal age 37
  non-smoker
  175 lbs
  
  free beta hCG 0.398 MoM
  PAPP-A 0.239 MoM
  
  T21 background risk 1:146
  T21 adjusted risk 1:93
  T18 background risk 1:340
  T18 adjusted risk 1:35
  T13 background risk 1:1070
  T13 adjusted risk 1:27
  
  Is there any hope? I feel so numb. I am going for a CVS test in 2 days time and will post the results here, if that is ok.
  
  Thank you for your help,
  Mary from London, UK.

   

• At Thu Jun 25, 12:22:00 AM 2009,  Anonymous said…

  Hi Dr T
  Thanks for your blog
  I am currently 29 years old
  13 weeks pregnant
  
  My result shows high risk for DS too. Would appreciate yor advise.
  
  Gestational age of assessment
  12 wks 4days
  
  NT = 2.9mm
  nasal bone = visible
  Fetal heartrate = 160bpm
  Risk 1:79
  
  After a blood test, results as follows
  
  Free b-hCG = 0.839 MoM
  PAPP-A = 0.834 MoM
  Risk 1:321
  
  Pls give me your advise thanks
  
  Regards
  
  V.concerned

   

• At Thu Jun 25, 12:26:00 AM 2009,  Anonymous said…

  Hi Dr T
  Thanks for your blog
  I am currently 29 years old
  13 weeks pregnant
  
  My result shows high risk for DS too. Would appreciate yor advise.
  
  Gestational age of assessment
  12 wks 4days
  
  NT = 2.9mm
  nasal bone = visible
  Fetal heartrate = 160bpm
  Risk 1:79
  
  After a blood test, results as follows
  
  Free b-hCG = 0.839 MoM
  PAPP-A = 0.834 MoM
  Risk 1:321
  
  Pls give me your advise thanks
  
  v.concerned

   

• At Wed Jul 01, 11:32:00 AM 2009,  Anonymous said…

  Hi,
  
  I am 36 years old and due Jan 3rd 2010 when I will be 37. I am currently 13 wks 3 days. I have had two previous pregnancies, one full term, healthy, resulting in a son now 11 years old and another pregnancy last year that ended at 6-7 weeks in a missed miscarriage, detected at 12 week scan. Had a D&C Jan 08.
  
  Present 3rd pregnancy results last week were:
  
  Fetal heart action 172 bpm
  CRL 59.0 mm
  NT 1.80 mm
  
  Nasal bone present, all organs, limbs normal. Placenta anterior high, amniotic fluid normal.
  
  Beta hCG 3.1 = 0.087 MoM
  PAPP-A 0.64 = 0.306 Mom
  
  Trisomy 21
  Background risk 1:245, adjusted 1:4905
  
  Trisomy 13/18
  Background risk 1:2031, adjusted to 1:95!
  
  Amnio test is booked in for 2 weeks time to test for chromsome problems, but am worried will not get that far as beta hCG so low. Only one other person has has such a low beta hCG on here and she miscarried a week later. She did not post the results of her amnio, so not sure if she miscarried due to a chromsome or placenta issue? I know I have to wait and see really but..
  
  ..any help/advice would be most welcome.

   

• At Thu Jul 02, 08:11:00 AM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Jess June 17: How low was the PAPP-A? Regardless, not all low values are associated with poor pregnancy outcome. Your provider will monitor the growth of the baby over time as a precaution, I'm sure. Good luck and let us know how things turn out.
  Dr T

   

• At Thu Jul 02, 08:13:00 AM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Mary June 23: Please let us know the results of the CVS and then I might have some other comments. Best wishes to you and thanks for writing.
  Dr T

   

• At Thu Jul 02, 08:16:00 AM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To v.concerned June 25: No the COMPOSITE results show a risk of only 1 in 321. That is the number, not any of the individual tests, you should be using to make any of your decisions regarding further fetal evaluation. Good luck and let us know how things turn out.
  Dr T

   

• At Fri Jul 03, 08:03:00 AM 2009,  Anonymous said…

  Hi,
  
  I suffer from needle phobia, one nurse even went as far to say as she thought I was having a Vasovagel Reaction. I go pale, nausous, hot, sweaty, blood drains to my feet and I have almost fainted many times.
  
  Would being so nervous at the time of giving blood have an affect on my NT blood test results?
  
  I have VERY low Beta hCG 0.1 MoM and PAPP A 0.3 MoM results from NT testing. The scan itself was very good for 12.5 weeks. I understand it could be a chromsome or placenta/growth issue that may end in miscarriage, but just wondered.
  
  Many thnaks x

   

• At Tue Jul 07, 03:19:00 PM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous July 1: That is a VERY low hCG and coupled with the low PAPP-A, it is easy to see why your trisomy 18/13 risk was increased. In circumstances such as this, it is hard to say at this point if the low serum analyte levels are the result of a very small placenta (with a chromosomally normal baby), or a small and dysfunctional placenta of a chromosomally abnormal baby. And, there is always the possibility that despite the abnormal values, everything is fine and the results are a 'red flag.' If the baby is chromosomally normal, the pregnancy should still be followed very carefully for fetal growth and Dopplers. Your doctors can explain why the latter may provide information regarding both placental and fetal status at various stages of the pregnancy. I wish you the best and please let us know how things turn out for you. Many other readers will appreciate the information!
  Regards,
  Dr T

   

• At Tue Jul 07, 03:22:00 PM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous July 3: A vasovagal reaction such as that you describe might temporarily divert blood flow AWAY from the uterus (and therefore the placenta which makes the PAPP-A and hCG) and could conceivably reduce these somewhat, but I doubt to the degree indicated by your results. But, anything is possible! Let us know how things turn out and I will give this more thought! Best wishes.
  Dr T

   

• At Fri Jul 17, 05:47:00 PM 2009,  gigi said…

  Hi, I have my 13 week 3 day results:
  
  fetus measured CRL at 13 wk 5 days
  Free beta HCG: .35 MoM
  PAPP-A: .49 MoM
  NT: 1.7
  Age: 34 (35 at delivery)
  
  All they told me was my d/s risk was 1/10,000 but they did not say what the risk for trisomy 18 or 13 were. Any thoughts? I have a 16 week demise that did not appear to be trisomy related (last year) and 1 early loss that may have been a trisomy and 1 blighted ovum. They suggested I take the combined test with the 2nd trimester blood draw. I'm not sure if I should worry about Trisomy 18 at this point.
  
  Thanks! gigi

   

• At Sun Jul 19, 08:12:00 AM 2009,  Anonymous said…

  Dear Dr T
  I posted on 25 Jun and have a high NT of 2.9mm at 12 weeks
  
  Since week 10 I have been bleeding on and off quite frequently. The latest being last week which the doc perform a scan and the fetal heartbeat dropped to 98bpm only. However the next day the fetal heartbeat climb back to 143bpm.
  
  What I would like to check with you is, Since the fluid accummulation at the back of baby's neck is facilitate by the heart, can this fluctuation of heartrate of my baby when I am bleeding affect the NT reading causing the neck fluid to be thick?
  
  In another words, my bleeding caused the baby to be in distress and hence the fluctuation of the heartrate which in turn affect the NT reading??
  
  Pls advise me on the possibility and I really will appreciate
  thanks

   

• At Mon Jul 20, 03:08:00 PM 2009,  Anonymous said…

  Dear Dr. T: I am a 31 year old healthy female, currently 13 weeks pregnant. I got these test results back today and even though I have spoken to my doctor 4 times already today regarding the situation, I am still scared to death and very unsure of what these results really mean in terms of how likely I am to have a baby born with Down Syndrome. My husband has a maternal aunt who gave birth to a baby at age 37 with Down Syndrome. I have been told by my perinatologist that that does not really increase my risk of having a DS baby all that much. I am driving myself crazy as you can see. I am scheduled for an Amnio in early August. I asked about CVS and my doctor said the risk of miscarriage is higher than my risk of having a baby with DS. Here are my test results...
  
  
  NuchalTrans: O.93 MoM or 1.3mm
  
  PAPP-A: 0.28 MoM
  
  hCG: 1.20 MoM
  
  Crown to Rump: 55.2
  
  Gest. age at time of test: 11.9 weeks

   

• At Mon Jul 20, 03:27:00 PM 2009,  Anonymous said…

  Dr T..My LMP was 6 weeks 5 days ago. My babys crown rump length is measuring 7 weeks 1 day..Is this something to worry about. Is the baby growing to fast....
  
  Thanks Quan

   

• At Mon Jul 20, 03:37:00 PM 2009,  Gavngraysmammy said…

  Dear Dr. T.-I am a 31 year old female in good health, currently almost 13 weeks pregnant. I have 2 other healthy children. I got my tests results back for my triple screen today and I am freaking out because it said I have a slightly greater risk of delivering a baby with DS. My husband has a Maternal Aunt who gave birth at age 37 and had a baby with Down Syndrome. My doctor says he would not consider that an issue when considering my risks. He has scheduled an Amnio for early August. I asked about CVS testing and he said my risk for miscarriage with CVS is more than my risk of having a baby with DS. But my husband and I would like to know as soon as possible. I have decided to go ahead with the Amnio even though that in and of itself scares me to death! Here are my values, I hope you can get back to me and offer a little peace of mind...Thanks for such an informative website as well-
  
  
  Baby was 11.9 weeks at time of test
  
  CRL:55.2
  
  Nuchal Trans: O.93 MoM or 1.3 mm
  
  PAPP-A: 0.28 MoM
  
  hCG: 1.20 MoM

   

• At Thu Jul 23, 03:21:00 PM 2009,  Jackie said…

  Hello, and thank you for this wonderful resource!
  
  I just had my testing done today. I am very worried as my chance of DS was indicated to be 1:44.
  
  Age: 11 weeks + 4 days
  FHR: 165
  CRL: 49.5mm
  NT: 1.9mm
  Nasal bone: present
  Free HcG: 1.1 MoM
  PAPP-A: .290MoM
  
  The Dr indicated the main issue was the very low PAPP-A levels, as well as the higher than average NT measurement.
  
  I have a few questions:
  
  1. Other than DS, what other problems can amniocentesis detect?
  
  2. If the results for DS come back negative, what further testing would you recommend, especially as I understand that a low PAPP-A score can indicate future pregnancy issues?
  
  Thank you again, your help is greatly appreciated.
  
  Jackie

   

• At Sun Jul 26, 02:50:00 AM 2009,  Anonymous said…

  Hi,
  
  I am anonomous of July 1st & 3rd. I had an amnio test over a week ago now and it was absolutely fine. (I am needle phobic and get into a terrible state even when having blood tests). I went to my GP as I was so stressed/worried about it and he gave me diazapam/valium. I took two before I went in & I never even felt the needle go in. The consultant was really good and took me through everything. The needle was only in for about 45 seconds and all I felt then was a little tenderness in my tummy (like when you're dying for a wee). I didn't even have any cramping afterwards.
  
  My preliminary test results are clear for trisomies 13/18/21, even though I had a risk of 1:95 of Edwards. My placenta seems a normal size, so fingers crossed for the full results in a week or so (that there is not an issue with any of the other chromosomes).

   

• At Wed Jul 29, 07:42:00 PM 2009,  Anonymous said…

  Hi Dr. T. I am new to this site and have found it extremely helpful. I am a 38 year old, non-smoker that went through IVF/ICSI and am now 13 weeks pregnant with twins. My age risk for down's syndrome is 1:75 and now after my 1st trimester screening is 1:61. NT looked great for both babies (1.2 for both) and nasal bone present. BUT my PAPP A levels were low (.77) and HCG high (1.19)although these aren't significant from what I'm told. I do not want to do invasive procedures and risk either baby (or both), but I am surprised my risk is now higher than my age table! I've been doing research and it suggests that IVF/ICSI patients do see lower PAPP A and higher HCG which leads to false positives. Should I be concerned? My results seem to be matching with the research.
  THANKS!!!
  TJ

   

• At Thu Jul 30, 11:37:00 AM 2009,  Anonymous said…

  I am anonomous of July 1st & 3rd. Amnio test has come back all clear and my placenta seems fine too! It's a girl, so looking forward to the 20 week scan now and Jan 3rd. Fingers crossed it is the red flag situation Dr T talked about.
  
  Many thanks for all the advice, it really helped at a difficult time x

   

• At Tue Aug 04, 11:53:00 AM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Gigi July 17: The laboratory should be asked why they did not provide you with a risk assessment for trisomy 18. Based on the combination of low MoMs for both hCG and PAPP-A, it may be elevated. However, as we have pointed out before, and as other readers have discovered, it also may man nothing!
  Dr T

   

• At Tue Aug 04, 11:58:00 AM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous July 19: An interesting question and quite honestly, this early in pregnancy I would have no idea. It is true that fetal anemia can lead to 'hydrops' (fluid accumulation in the baby) so if some of the blood being lost was the baby's then perhaps what you postulate might be true! Anyway, please let us know how things turn out. Best wishes.
  Dr T

   

• At Tue Aug 04, 12:01:00 PM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Anonymous July 20: What was the risk you were given for having a baby with Down syndrome based on that combination of findings?
  Dr T

   

• At Tue Aug 04, 12:07:00 PM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Jackie July 23: How old are you? The NT measurement is actually well within the 'normal range' for your gestational age. The PAPP-A level is low, but as pointed out in this post and in the comments, there are various reasons that might occur and none may actually impact the pregnancy outcome! An amniocentesis in your case can help to detect ANY chromosomal abnormality (not just Down syndrome), but cannot detect 'gene defects' unless there is a family history of a specific abnormality for which the laboratory can screen. There are other things that can be found by screening amniotic fluid but these studies are also often not done unless a specific problem is suspected. Best wishes!
  Dr T

   

• At Tue Aug 04, 12:08:00 PM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Quan July 20: Goodness no! That is well within the range of normal variation for your last period! Good luck with the rest of the pregnancy!
  Dr T

   

• At Tue Aug 04, 12:14:00 PM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To gavngraysmammy: Hello again. Your increased risk is being driven by the low PAPP-A, but everything else is VERY reassuring and there are many reasons other than a baby with a chromosomal abnormality that are associated with a lower PAPP-A level. I am gonna bet this baby is chromosomally normal. Let us know what you find out! Best wishes!
  Dr T

   

• At Tue Aug 04, 12:18:00 PM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Anonymous July 26: It looks like congratulations are in order. I am sure MANY other readers will appreciate your comments regarding the amnio! Best wishes for the rest of the pregnancy.
  Dr T

   

• At Tue Aug 04, 12:24:00 PM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To TJ: Your risk may be higher than you expected for the reason you pointed out and because this is a twin pregnancy with babies likely to be from separate eggs! That alone DOUBLES your risk. I would certainly offer you an amnio as a 'standard of care' but respecting what you have been through to get to this point, the fact that this is a twin pregnancy with inherent risks of its own, and my faith in ultrasound to offer you more information about the babies' status later in pregnancy, I wou;d also be informing you that a prudent choice would be simply to wait before making any decision regarding an invasive diagnostic study until (and hopefully not) there is some better reason to proceed with that! Best wishes and remembere, the odds are still in your favor that both babies are fine!
  Dr T

   

• At Tue Aug 04, 01:13:00 PM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous July 30: Congratulations and thanks for letting us know the final results! Regards,
  Dr T

   

• At Mon Aug 17, 02:41:00 AM 2009,  Anonymous said…

  Hi Dr T
  
  I would appreciate your comments
  on this.
  
  NT at wk 12 = 2.9mm
  Nasal bone present
  Blood test = Normal
  
  Fetal doppler test at wk 14 & 16 shows fetal bloodflow Normal
  
  Detailed scan of fetus at 20weeks shows Normal
  No abnormality detected
  I went to check with 2 separate sonographers and no markers for Down Sydrome from botn results.
  
  I would like to check. Am i still high risk for down's? If the bb is not down's, what else it could be with the high NT?
  Thanks alot

   

• At Wed Aug 26, 06:58:00 PM 2009,  Kim said…

  I am currently 35 years old and received my ultra screen results today. I was told the Nuchal Trans level was fine, but the bloodwork showed signs for concern. I was given a risk of 1/7000 for Trisomy 13 and 18, but 1/23 for Downs Syndrome. As I read your posts, I saw NO ONE with odds this high. I don't know how to interpret this... Part of me wants to say 22 babies will NOT have Downs Syndrome with these statistics, but I don't know if I'm reading it correctly. Can you provide any more insight?

   

• At Fri Aug 28, 12:07:00 PM 2009,  Anonymous said…

  Hi Dr Trofatter,
  
  This question is a little off subject, but I don't know where else to ask. I am 10.5 weeks pregnant and am scheduled for NT scan in 2 weeks. Yesterday I found out that at 6 weeks I had elevated levels of Hb-F. I have read that this is idicative of aneuploidy. Should I be concerned?
  
  Thank you. MTR

   

• At Fri Aug 28, 06:01:00 PM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous AUG 17: You did not tell me your combined first trimester risk results. Were you at increased risk for Down syndrome. The NT of 2.9 may just mean the baby is at the upper range of 'normal'. And, if all the other test results support that, then the baby probably is chromosomally normal. Best wishes.
  Dr T

   

• At Fri Aug 28, 06:04:00 PM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Kim: At age 35, your 'age alone' risk for a baby having Down syndrome in first trimester is about 1 in 238. You are correct to interpret the results that 22 of 23 babies will NOT have Down syndrome, but that is also a VERY high risk - 10 times your age alone risk. But, as I tell everyone on this site, how you process and respond to that information is entirely your choice! Best wishes.
  Dr T

   

• At Wed Sep 02, 11:25:00 AM 2009,  Anonymous said…

  Oh hello Dr T, I am back. (Anon July 1st/3rd/30th.
  
  My 20 week scan discovered that the baby was two weeks behind in growth.
  
  Head, brain, face, spine, neck, skin, chest, heart, ab wall, gastro int tract, kidneys, bladder, extremeties and skeleton all look fine with a good level of amnio fluid around the baby.
  
  The scan today (22 weeks 3 days) shows the baby has grown but is still small and doesn't move a lot. In fact, the baby was described as being in a 'persistantly extended breech position and although fetal movements were noted, these were limited'. This bit concerns me the most.
  
  The consultant says it is early on-set of IUGR, and thinks possibly due to Placental Mosaicism (which would explain low serum markers earlier in the pregnancy, but is not sure at present. I have had the amnio so the baby is phentotypically and karyotypically normal.
  
  I am to be scanned again in two weeks and depending how things go, I may be referred to a specialist consultant.
  
  Any thoughts/advice for me? Particularly on the movement of the baby. (It never has been a big mover in any of the previous scans).
  
  Many thanks x

   

• At Mon Sep 14, 07:40:00 PM 2009,  Anonymous said…

  This article has been extremely helpful to me. The Dr I spoke to today was extremely short and not helpful. I'll be 34 1/2 and this is my 2nd child. My first was healthy.
  
  My numbers were:
  PAPP-A MoM .22
  hGC1 MoM 1.57
  NT MoM 0.93 based on 1.9mm
  
  My blood work was drawn at 11 weeks 6 days. The NT scan done at 13 weeks 6 days with a CRL of 78.0 mm.
  
  I was told a 1/37 chance of trisomy 21. We've scheduled an amnio for week 15. I'm curious if anything stands out. The Dr today scared my husband into thinking that it was certain to have a negative outcome.

   

• At Wed Sep 23, 05:26:00 AM 2009,  ASG said…

  Dear Dr.T,
  I am 29 and have undergone a CVS. As i wait for the results i am very tensed. Based on the below details could u tell me if there is a good chance that my baby does not have down syndrome
  NT : 2.1 mm
  CRL: 55 mm
  Nasal bone : visible
  HGC : 1.9 MoM
  Pappa-a : 0.37 MoM
  
  Regards, ASG

   

• At Fri Sep 25, 01:49:00 PM 2009,  Anonymous said…

  Hi everyone.
  
  Dr T, thank you for all the info here.
  
  I last posted on June 23rd. My results weren't too good:
  
  
  free beta hCG 0.398 MoM
  PAPP-A 0.239 MoM
  
  T21 background risk 1:146
  T21 adjusted risk 1:93
  T18 background risk 1:340
  T18 adjusted risk 1:35
  T13 background risk 1:1070
  T13 adjusted risk 1:27
  
  
  I still held onto some hope, but it wasn't to be. I thought I would update you.
  
  My baby daughter had Trisomy 13. We buried her last week. My heart is broken.
  
  I wish everyone all the best and lots of love.
  
  
  A heartbroken Mary, London, UK.

   

• At Thu Oct 01, 05:25:00 AM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous sep 2: No new thoughts but I too am concerned that this could be either a chromosomal mosaicism problem or a genetic condition. Wish I could be more help. Plesae let us know how things turn out. Kind regards.
  Dr T

   

• At Thu Oct 01, 05:27:00 AM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous sep 14: Your gae, the very low PAPP-A and the difference between the hCG and the PAPP-A are driving your risks, BUT, you still have a 36/37 chance that he baby is chromosomally normal. Let us know what you find out and best wishes to you.
  Dr T.

   

• At Thu Oct 01, 05:28:00 AM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To ASG: What was the risk assesssment you were given?
  Dr T

   

• At Thu Oct 01, 05:30:00 AM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Mary Sep 25: I am so sorry. Even when babies have problems, they will still always be our babies and in our hearts. Kind regards...
  Dr T

   

• At Fri Oct 09, 07:43:00 PM 2009,  Anonymous said…

  Dear Dr. T, I just had my 12 week scan with my ultra screen results.
  The results are:
  Free Beta hCG (MOM) 0.40
  Free Beta hCG (mg/ml) 39.55
  PAPP-A MOM 0.27
  PAPP-A (mIU/ml) 0.09
  NT 1.7
  CRL 54.4
  I am 32 years old and this is my second pregnancy. I am so concerned about these results. Can you give me any feedback. I would be most appreciative.

   

• At Sat Oct 10, 04:38:00 AM 2009,  Anonymous said…

  Dear Dr T,
  Thanks for your advice.
  I am 36, third time pregnant, with 1st pregnancy 8 yrs ago and a termination a year later. Recently had NT scan and bloods.
  The scan was absolutely fine.
  
  NT 1.29 mm
  Free bhcg 2.717MOM
  PAPP-A 0.4132 MOM
  
  Biochemistry risk of Downs 1 in 12
  Combined risk 1 in 67
  
  I have now book another NT for second opinion.
  Do you think I will need to go for amnio... and if amnio shows all ok, do I still need to worry about these results?
  
  Many thanks
  Neetu

   

• At Tue Oct 13, 11:52:00 AM 2009,  Anonymous said…

  From anon July 1st/3rd/30th & Sept 2nd!
  
  Hello Dr T. I am now 28 weeks pregnant, but measuring only 22 weeks. I managed to get referred and saw a professor of fetal medicine. He scanned me and had a cardiologist check the heart and the baby looked looked fine, just that she was small.
  
  I mentioned Uniparental Disomy (as I had looked into why the baby could be small myself) and he said he wouldn't normally consider a genetic referral, but we got one.
  
  After looking into our history the geneticist told me that we'd have to wait until she was born, as 'nothing stuck out'. However, 4 weeks later we were told that we could have the tests and are now awaiting the results. (Both my husband and I gave blood and they are using the amnio sample).
  
  I am very concerned it is RSS,PWS etc(again I have had to look this up myself) and am very upset that when we received our Nuchal Test results at 13 weeks we were just referred for an amnio with no full explanation of what the low papp-a beta hcg could mean. (Hence why I and so many other women are going onto sites like this for help & advice).
  
  The fact that the blood results (papp-a and beta hcg) were so low should have signalled an an alarm bell to the doctor reading the report surely? Even if not for fuller amnio/genetic testing, the fact that I had a higher chance of miscarriage/stillbirth was not even explained.
  
  
  Am I being too harsh? This has all been very distressing and it seems that it is me who has had to find out the full consequences of my pregnanacy and ask the questions. I think I'd still be in the dark if had I not.
  
  I was meant to be having steroid injections this week, but I am now having to wait for the genetic results to come back and the 29/31 week scan.
  
  It is a total nightmare...I was planned in for a c-section at 32-33wks a few weeks ago. Even this concerns me with the baby growing so slowly. We'll be lucky if she's a pound and a half and survives, never mind the potential issue of genetic problems.
  
  
  Kindest regards,
  anon July 1st/3rd/30th & Sept 2nd

   

• At Tue Oct 13, 07:38:00 PM 2009,  Anonymous said…

  Hi Dr T,
  
  I have read through all of your posts and firstly would love to say how great this site is!!
  I have some extensive background but wont go into that too much. Brief overview is I have SLE (inactive since I was 14 and recetly tested for blood clotting and that was negative) first baby, son born at 36weeks naturally and second child, Daughter born at 25weeks due to no known reason (doing fantastic and no lingering problems from her prematurity) classic c section.They both had very normal First trimester screenings.
  I am now 12 weeks along and my screening results were as follows:
  
  Normal nuchal fold
  nasal bone detected(although this is not factored into results)
  Free HCG 1.1
  Papp A 0.27
  this gives me a risk on 1/201 of DS.
  I am after some reassurance from your experience as at the moment the hospital don't take into consideration the presence of the nasal bone.
  I am 31 and wont turn 32 until 2 months after bub is born
  Thanks Again!!!

   

• At Wed Oct 14, 05:57:00 AM 2009,  Linda said…

  I am 40 years old. I have had 2 previous miscarriages due to trisomy 15 and trisomy 16. They both terminated in the 8th week. I am pregnant again. Last week I had my first trimester screening and it came back positive for DS. Here are my results.
  
  at 12w5d
  nt - 1.59
  nasal bone present
  hcG 1.53 MoM
  PAPP-A 1.02 MoM
  DIA - 1.95 MoM
  
  My risk went from 1:59 for my age to 1:190, but that is still considered high risk. I wanted to get your opinion on my HcG and DIA values. How alarming are they?
  
  I'm scheduled for a CVS this week and I'm trying to decide whether to keep the appointment or what to expect from the results if I do keep it. Thanks,
  
  Linda

   

• At Wed Oct 14, 05:18:00 PM 2009,  Anonymous said…

  Dear Dr. T I had got the call that I failed my screening.my numbers are
  Papp-a 0.46
  hcg 1.62
  nt 1.55
  I had my cvs today and I am waiting for my results I am devasted with this news. I am 38 years old and I am at 12 weeks. The Dr said teh chance was 1in 12
  can you give me any insight
  thanks

   

• At Thu Oct 15, 04:18:00 PM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Oct 9: I am not the laboratory computer, but I would expect that the relatively low hCG and PAPP-A may put you at increased risk for trisomies 18 and 13. What risk assessment results were you given?
  Dr T

   

• At Thu Oct 15, 04:24:00 PM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Neetu: Personally, unless the "second opinion" is with a leading expert, I would recommend making your decisions based on the results you have in hand. If you are not too far along, a CVS is possible or even a transabdominal placental biopsy. If you are beyond 13 weeks, I would suggest an amniocentesis at 15-16 weeks. The amniocentesis will answer the question whether or not the baby is chromosomally normal, and if the baby is chromosomally normal, I would still recommend serial evaluation of fetal growth and Dopplers (starting a little later in pregnancy) in view of the low PAPP-A. Please let us know how things turn out and best wishes!
  Dr T

   

• At Thu Oct 15, 04:28:00 PM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous July 1- Oct 13: I know things have been frustrating for you but, unfortunately, the first trimester test is still just a screening test. Not all individuals with "abnormal" test results will have anything wrong with their baby at all. I do sympathize with your situation and still hope for the best. Thank you for the follow-up and plese let us know the final outcome. Again, best wishes to you...
  Dr T

   

• At Thu Oct 15, 04:34:00 PM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Oct 13: Even with the low PAPP-A, your risk is still just 1 in 201 and the hCG is VERY 'normal'. I guess with your history of SLE and your prior complicated pregnancy deleivered early at 25 weeks, my greater concern with that low PAPP-A is that your autoimmune disease (even though quiescent) mayhave affected the adequacy of the baby's placentation. If so, you might be at increased risk for intrauterine growth restriction, preeclampsia, and another early delivery. Doppler flow studies may give your doctors a better idea as to whether or not the placenta is normally vascularized from both the fetal and maternal side. You might ask your doctors about this. Are you going to have genetic studies done? Best wishes and please let us know how things develop with the pregnancy...
  Dr T

   

• At Thu Oct 15, 04:40:00 PM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Linda Oct 14: They aren't "alarming" to me at all! It is encouraging to see the "normal" PAPP-A and an only modestly elevated hCG. That's why the combined risk assessment was able to reduce your risk as much as it did. The 1 in 190 result is still considered "high risk" but it is still just 1 in 190 (ie, 189/190 babies with those results would NOT have Down syndrome!). So the only thing to ask, is that good enough for you to wait until a careful sonogram can be done at 18-20 weeks (which if normal can further reduce your risk by AT LEAST 50%), or would you feel better if you knew for sure sooner if the baby is chromosomally normal! Please let us know how things turn out. Best wishes.
  Dr T

   

• At Fri Oct 16, 04:00:00 AM 2009,  Tehmina said…

  Dear Dr T,
  
  I am 30 years old and nearly 15 weeks pregnant, these were my results at 13 weeks :
  
  2 Beta HCG= 19.788 iu/i
  equivalent 0.2806 MOM
  
  PAPPA- 0.255 iu/i
  equivalent to 0.2568 MOM
  
  I was then told i am at high risk for T13/18 abnormaltiy. the background risk for my age is 1:6600 and my risk dropped to 1: 466.
  
  i have opted against invasive testing but they will be scanning me closely at 16 weeks and 20 weeks.
  
  only thing that worries me my 2nd son was small throughout the pregnancy and was born with an extra thumb on his right hand....he is now 1 year and 3 mths,we haven't had him tested for any chromosomal abnormaltiy and neither were my results alarming like this with the pregnancy, they just detected he was small...he was born at 4.12lbs. can you tell me if i should be worried and is it a good idea not to go for the invasive testing. i am really worried and confused. My eldest son who is 4 is completely normal and the 2nd one is petite but completely normal in appearence and his habits etc.
  
  Regards
  
  Tehmina

   

• At Thu Oct 22, 08:15:00 AM 2009,  Anonymous said…

  Dr. T:
  I recently received my first trimester screening results. I was 13 weeks 2 days at the time the blood and scan were done.
  PAPP-A was .48
  BHCG was 2.43
  A nasal bone was spotted
  And the NT was 2.3.
  I am going to get an amnio because the risk was assessed at 1/95, which is very low for my age (28). I am in shock and very scared.
  I have 3 questions, and I really appreciate you taking the time to look over them.
  My first question is about the NT. The doctor said it was in the normal range, but is the fact that it is closer to 3 than 1 increasing my risk? I have read some people have NT measurements in the decimal ranges. Is the closer to 0 the NT, the better?
  Also, I read that for those that receive a positive screen, only 1/20 actually have a DS baby. How does that number go with my risk of 1/95? Isn't the fact that I'm 1/95 and increased risk mean I received a positive reading for DS? So is my actual risk 1/20?
  Last but not least, can you take anything from movement during the ultrasound? She wasn't moving a ton, but she was waving her hands, had the hiccups, and even appeared to suck her thumb even though the tech said she couldn't do that yet at 13 weeks.
  Thanks for all of your help.
  K

   

• At Thu Oct 22, 08:20:00 AM 2009,  Anonymous said…

  Sorry to bug you again, but I thought of one last question. Can a bacterial vaginal infection affect the numbers?
  K

   

• At Fri Oct 23, 08:40:00 AM 2009,  Linda said…

  I originally posted on October 14th, but I wanted to send a follow up. Here is my orignial post:
  
  I am 40 years old. I have had 2 previous miscarriages due to trisomy 15 and trisomy 16. They both terminated in the 8th week. I am pregnant again. Last week I had my first trimester screening and it came back positive for DS. Here are my results.
  
  at 12w5d
  nt - 1.59
  nasal bone present
  hcG 1.53 MoM
  PAPP-A 1.02 MoM
  DIA - 1.95 MoM
  
  My risk went from 1:59 for my age to 1:190, but that is still considered high risk.
  
  You indicated in your response to this that you would not be overly alarmed by these numbers since the HcG was only slightly elevated, normal PAPP-A, etc. You were right! I had a CVS last Friday and got the full results today and I'm having a healthy baby boy! Thanks so much for your encouragement last week. I'm looking forward to letting my friends and family know this weekend.
  
  Linda

   

• At Wed Oct 28, 12:44:00 PM 2009,  Anonymous said…

  I just got my first trimester screening result. I am 34 yrs.old, 1st pregnancy, have hypothyroidism. I don't know the exact value for PAPP-A but they said it is borderline low. My ratio for DS is 1:840 and Trisomy 18 is !:700. NT fold was normal, nasal bone was present. Can you please comment on my results?
  
  Thanks you,
  --SP

   

• At Tue Nov 03, 04:45:00 PM 2009,  Steph said…

  Dear Dr. T,
  
  Just had my 1st trimester screen, and was given results back of 1:210. My doctor said "normal" for my range is 1:240, so he recommends an amnio.
  
  My 35th birthday was on the day the test was run, so my doctor ran my age as 35 even though we conceived when I was 34.
  
  NT: 2.1
  PAPP-A: 2.14 MoM
  FB-hCG: 3.02 MoM
  
  From what I can tell the FB is high, but everything else might be "normal." What does a high FB mean?
  
  I had a flu shot the day before the blood test -- could this have affected results?
  
  Lastly, I can't do an amnio where I live so I have to fly to another city. Is there an increased risk of miscarriage if flying soon after the amnio? When would be a safe time to fly back home?
  
  Thank you.

   

• At Tue Nov 03, 10:06:00 PM 2009,  Anonymous said…

  Dear Dr T,
  
  I am currently 38 years old and 12 weeks 3 days pregnant. I just went in for my first trimester combined screening today, and I would like some help interpreting the results a little better. This is my 4th pregnancy (my third ended in miscarriage earlier this year in May). I am Chinese American.
  
  My PaPP-A was 0.16
  My HcG was 1.38
  The NT was 1.8 mm
  The baby's heart rate was 161
  
  I took my blood test at 10 wks 4 days, but the paper listed it as 11 weeks.
  
  I am 12 weeks 3 days today, but the paper listed the ultrasound being taken at 12 weeks 6 days.
  
  The results they gave me was that I have 1 in 7 chance for having a baby with Down's. The risk for trisomy 18 was with 1 in 450, which they considered "normal."
  
  My husband and I are completely freaked out. Either way, we've decided to keep this baby, but I guess I would like to know if any of the information I've given you could be more "reassuring," or if there's might be any reason I should call the perinatal office to correct the mistakes.
  
  We've decided against the CVS because of the risk of miscarriage. I'm supposed to go in at around 15 weeks for the second blood test.
  
  I hope I've given you enough information. If not, I'll be happy to give more.

   

• At Tue Nov 10, 07:58:00 PM 2009,  Anonymous said…

  Dr T
  It took me a while to find where I left my post (I have now bookmarked)!!!! I originally wrote to you on October13th from Australia, 31 years old,DS risk 1 in 201, inactive lupus, 2 previous children one of which born at 25weeks. Papp A .27 HCG 1.1 and normal nucal fold (1.something)
  We have been and still are agonising on wether to have the amnio testing done, I have suffered (prior to both my children) 4 early first trimester miscarriages 3 just after 4/5 weeks and one at 9 weeks which was karyotped as a triploidy. I just think that may aggrevate me and cause another preterm birth or miscarriage more than the average person. I am going for an ultrasound at 19weeks but still have been told they can do the amnio after if any markers are found. I have heard that only 50% of markers will show up???
  Thanks for your advice regarding the doppler flow study I will get them to test this at my next scan!! Would you think that given all the results show normal bar my PAPP A that this would not be linked to DS?
  Thank you again so much for your time!!!
  Michelle

   

• At Wed Nov 11, 01:44:00 PM 2009,  Jayne said…

  Dear Dr T
  
  First may I say that the help and advice you provide on your website is excellent.
  
  My pregnancy has been somewhat challenging from early in the first trimester.
  
  After six cycles of IVF (with ICSI), we finally got pregnant through a Thawed Embryo Replacement (six day blastocyst). I’m 42 years old and this will be my first child.
  
  The first trimester was notable with both low HCG readings plus a blood clot in the uterus. Both were cause for concern from weeks 4 – 8.
  
  In week 12 I had the first blood test and Nuchal scan as part of a triple screen. At 14 weeks I had the second blood test. At 16 weeks the results came back showing very low Papp-A (at 0.09 MoM). On advice from our specialist we immediately underwent an amniocentesis. Both the preliminary FSH and final results showed no chromosomal abnormalities. Unfortunately, the amnio procedure caused a tear in the amniotic sac resulting in 2/3 loss of amniotic fluid. After 2 weeks of antibiotics the tear had healed and fluid levels returned to normal.
  
  At 20 weeks I went for my morphology scan. This showed shortened long bones (below the 3rd percentile). No other abnormalities were found. After 7 further weeks of close monitoring, including assessments from a geneticist and leading specialist the current thinking is either:
  • Growth retardation due to low levels of Papp-A in the first trimester, or
  • Undiagnosed non-lethal skeletal dysplasia.
  
  Baby has grown during the last 7 weeks. However, his limbs are still below the 3rd percentile.
  
  We would like to know if such low levels of Papp-A could account for the short long bones. Also, if there are any other developmental issues, or likely pregnancy complications, we should be monitoring for?
  
  We have ultrasound scans scheduled for every two weeks for the remainder of the pregnancy.
  
  As you can imagine, both my partner and I are extremely worried and would appreciate the benefit of your knowledge and experience.
  
  Jayne

   

• At Thu Nov 12, 02:04:00 PM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Tehmina Oct 16: Based on what you have told me, you may just be 'at risk' for small placentas and small babies. A risk of 1 in 466 for trisomy 18 is not especially high and more than 90% of those babies will have multiple abnormalities detectable by ultrasound at 16-20 weeks. However, I would suggest that you have the child who was born with the extra thumbs evaluated by a geneticist to make sure there isn't some familial condition with variable penetrance that would place your current baby at risk. Best wishes!
  Dr T

   

• At Thu Nov 12, 02:16:00 PM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To K Oct 22: It is discouraged to use the term "normal range" when discussing any of the individual factors that go into the risk assessment in first trimester screening. In some cases that can give a false sense of comfort and in other situations an unrealistic sense of concern. For example, half of all Down syndrome babies will have a perfectly 'normal' NT measurement and many babies with NT measurements if 2.5 mm will be perfectly normal. Your observation is correct, however, and that is the greater the NT measurement, the greater the likelihood of a chromosomal abnormality or/and a congenital heart defect. As for risk, YOUR risk is the 1 in 95 you have been given. If it was 1 in 20, that is the report you would have received! I am always reassured by fetal movement early in pregnancy, but I am not aware if that has ever been factored into aneuploidy screening in first trimester. And, I do not believe a bacterial vaginal infection should affect your laboratory results. Best wishes and let us know how things turn out!
  Dr T

   

• At Thu Nov 12, 02:18:00 PM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Linda Oct 23: Congratulations! I wish you the best for the rest of your pregnancy!
  Dr T

   

• At Thu Nov 12, 02:19:00 PM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To SP Oct 28: The results sound very reassuring to me! Best wishes!
  Dr T

   

• At Thu Nov 12, 02:24:00 PM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Steph Nov 3: Your age at the expected due date (not conception) is used to factor your risk. Both you hCG and PAPP-A are on the high side. That is always more reassuring to me when the PAPP-A is not very low in relationship to the hCG. I am betting this baby is fine and you just have a larger than average size placenta (and perhaps eventually a big baby!). As for flying, you should discuss that with the people who will be performing the procedure BEFORE you fly to have it done. You should be fine as long as you are in a pressurized cabin, but they might have different thoughts under your circumstances. Best wishes and let us know how things turn out!
  Dr T

   

• At Thu Nov 12, 02:28:00 PM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Nov 3: Your risk is being driven by your age and the difference between the MoM results for the hCG and the PAPP-A and NOT the slight difference in dates. I am afraid you will have to make your decisions about invasive diagnostic testing based on your comfort level with the risk assessment you have been given. Best of luck!
  Dr T

   

• At Thu Nov 12, 02:32:00 PM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Michelle: I am still betting your abnormal PAPP-A results are more the consequence of your lupus, perhaps portending another early delivery regardless of whether or not you have an amniocentesis done. But you will still have to make your decision about the amnio on the test results and the results of the ultrasound. You are correct, if no major abnormalities or 'soft markers' for Down syndrome are found, your risk will be reduced by AT LEAST 50%. Still wishing you the best of luck and please keep us bookmarked and let us know how things turn out!
  Dr T

   

• At Thu Nov 12, 02:38:00 PM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Jayne: The long bones are below the 3rd percentile but are they continuing to grow or are they falling farther and farther behind. Also, if you and/or your partner are small, the baby may simply be 'constitutionally small.' Assuming the baby has normal-appearing bones otherwise, no other abnormalities, and normal Doppler flow studies, the latter becomes more likely. As a word of caution, even with a "normal" fetal chromosomal study, there is still a small chance the baby could have a subtle chromosomal abnormality not detected by routine testing, a chromosomal mosaicism, or even a genetic syndrome that would not ordinarily be found by chromosomal analysis. I wish you the best and please let us know how things turn out!
  Dr T

   

• At Fri Nov 13, 11:27:00 AM 2009,  Anonymous said…

  From anonymous July 1-Oct 31st Original NT results at 13 weeks:
  Fetal heart action 172 bpm
  CRL 59.0 mm
  NT 1.80 mm
  
  Nasal bone present, all organs, limbs normal. Placenta anterior high, amniotic fluid normal.
  
  Beta hCG 3.1 = 0.087 MoM
  PAPP-A 0.64 = 0.306 Mom
  
  Trisomy 21
  Background risk 1:245, adjusted 1:4905
  
  Trisomy 13/18
  Background risk 1:2031, adjusted to 1:95!
  
  Hello Dr T,
  32 week update: At present I am 32 weeks pregnant with a baby girl weighing only 642 grams/1.5lbs (22 ½ ozs). Up until the last scan I was being told that it was probably a placenta issue, now they are saying it could be a form of Primordial Dwarfism, but they still say that they are not really sure why she is so small. All the dopplers, amniotic fluid, pressures are fine. She is proportionately small, hence now feel genetic issue with baby not placenta I guess.

   

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