Elevated hCG Detected at the Time of First Trimester Screening for Aneuploidy

168 Comments:

• At Mon Mar 31, 08:39:00 AM 2008,  Anonymous said…

  Dr. Trofatter,
  
  This posting is timely as I have just received back my results of the first trimester screening and received a positive with a risk of 1:33 for Down's. My nuchal was 1.7, there was a nasal bone present, my free beta was 2.43 MoM, and the PAPP-A was 0.48. I'm trying (unsuccessfully) to focus on the 97% chance that my baby is fine. I elected not to have CVS because I received my results too close to the end of the 12th week to have sufficient time to decide, so I've deferred to an amnio in 3 weeks. My question is why 32 of the 33 women will have a normal child but still have abnormal lab values? Also, can more credence be given to the blood tests or the ultrasound in having predictive value or do all receive equal weight in determining risk?
  
  Thank you for your time. I enjoy your blog very much.

   

• At Mon Mar 31, 06:37:00 PM 2008,  Anonymous said…

  Hi Dr. Trofatter,
  Thanks for the response! I like the prenatal team at my hospital very much, but on this one, my phone call only elicited an "I don't know" response from the midwife who called to discuss my results. I'm sure because I'm considered "low risk", I'm not dealing with specialists who could speculate on an explanation.
  Nonetheless, I like to understand my healthcare, so your ideas on this are very helpful. I will ask to speak with an obstetrician who will keep an eye on the possibility of a placenta accreta as the pregnancy progresses. Of course, I understand everything is 99.87% likely to be completely fine!
  I still have ~ 25 weeks before I can let you know how the placenta... umm... went, but I'll let you know. I'm also supposed to report to the radiologist who performed the NT scan if the theories she'd heard about genetalia at the 13th week prove correct. "According to the author, this would be a girl"... we'll see!

   

• At Fri Apr 04, 07:37:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Mar 31: The different variables (maternal age, hCG, PAPP-A, nuchal translucency, etc) are given variable weights when factored into the risk assessment and that evens varies with gestational age. I do not know exactly how that is determined and rely entirely on the large database that we all use when we perform the studies. The reason more women will have a "normal" baby is one of the primary downsides of a SCREENING test rather than a diagnostic test. Screening tests are valuable if they have low false negative results (in otherwords, they point to the possibility of an abnormality), but the trade-off is a comparaitively high false positive rate. In the case of first trimester screening, if you are "screen positive (abnormal)" it is unlikely that a baby with trisomies 21 or 18/13 will be missed and that gives you the opportunity to have a diagnostic study done that will actually rule in or rule out the abnormality. Screening tests do help reduce the number of diagnostic procedures that have to be done and good ones help pick up abnormalities in patients who would not ordinarily be considered 'high risk' by age alone, for example, in the case of fetal chromosomal abnormalities. Hope this helps. Best of luck to you and let us know how things turn out! Dr T

   

• At Wed Apr 16, 06:32:00 AM 2008,  husband said…

  First, thank you for all the time that you take in answering our queries.
  
  My wife's details:
  28 y/o,126 lb, non-smoker, hx of epilepsy (brought on my antimalarial drugs, no seizures in 4 yrs; has 3 kidneys, one low functioning.
  
  baby's scan results (at 12 wks)
  3.6mm NT
  1.4mm NB - present
  1.43 MoM free B hCG
  1.81 MoM Papp-a
  57.5mm CRL
  176bpm HR
  
  We have met with a genetic counsellor and are scheduled for echo test and follow up scan at 16 weeks (in two weeks time). I am a former academic, but unable to find research on elevated NT PLUS slightly elevated papp-a and free B hCG.
  
  Any comments would be gratefully received.

   

• At Sun Apr 20, 05:45:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To husband Apr 16: Is your wife on any seizure medications now and does she have any other medical problems for which she is or is not receiving medical therapy? is this your first child together? Is there any family history of congenital cardiovascular malformations?
  
  I agree, the combination of high NT and high serum markers is a bit unusual, but I think I would rather see them both normal to high under these circumstances than in any other combination! There is no published research on this of which I am aware. I agree that evaluating the baby's heart and thorax is a high priority for further management. Babies can have cardiac malformations and other abnormalities that affect the thorax that might impede lymphatic drainage and be completely normal chromosomally. Of course, your baby may still have absolutely NOTHING wrong as well. And, I hope that is the case. Please let me know what you find out. I learn under these circumstances as well and we have many readers who also might be interested. Best wishes. Dr T

   

• At Mon Apr 21, 10:14:00 AM 2008,  Anonymous said…

  Dr. Trofatter,
  
  I was the poster from March 31st. As an update, I went in for the amnio today, but there wasn't a great spot to insert the needle due to my anterior placenta. As a result, we postponed. I think it was a sign because he did do an anatomy ultrasound that revealed no soft markers. I think I'm going to skip the amnio and take my chances, which are looking good.

   

• At Mon Apr 21, 01:13:00 PM 2008,  Anonymous said…

  Hi Dr. Trofatter,
  
  I'm just wondering what you think of my first trimester screening results. I am 29 years old, this is my first pregnancy, and I had the tests done at 12w1d (though the baby was measuring 12w5d).
  
  NT = 2.5mm (1.56 MoM)
  PAPP-A = 2.41 MoM
  hCG = 1.75 MoM
  Nasal bone = present
  
  My risk was determined to be 1/1300 for Downs and 1/10,000 for T18.
  
  Even though this is good news, I am still worried that 2 of the 3 measurements (NT and hCG) are consistent with Downs. I know that it is the overall pattern that matters and not necessarily individual results, but I am still a bit concerned.
  
  ALL my measurements were on the high side. Is this anything to be concerned about? I haven't seen anyone with results like mine.
  
  Thanks!!
  Tara

   

• At Mon Apr 21, 05:34:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  Tara: The composite risk evaluation is great! Don't try to dissect the numbers. It would be very unusual to have a PAPP-A level that high with Down syndrome. You may just have a very healthy placenta! I would still recommend a targeted ultrasound at 18-20 weeks to carefully evaluate the baby and placenta for any abnormalities. Chances are you will do just fine. Best wishes for the rest of the pregnancy. Let us know how things turn out. Dr T

   

• At Mon Apr 21, 05:39:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Apr 21 10:14: Great! Let us know how things turn out! Best wishes for the rest of the pregnancy! Dr T

   

• At Fri May 02, 08:10:00 AM 2008,  Katie said…

  Hi Dr. Trofatter,
  
  Thank you so much for your blog - this is the only one I found on the web addressing these issues. I am 34 years old, this is my first pregnancy, and I had the tests done at 12.9 weeks.
  
  NT = 2.0mm (1.18 MoM)
  PAPP-A = 1.24 MoM
  hCG = 3.18 MoM
  Nasal bone = present
  
  My risk was determined to be 1/140 for Downs and 1/10,000 for T18.
  
  Unfortunately, due to my move from Hawaii to the states, I have not received this news until now (week 22 of pregnancy). I am wondering what your recommendation would be given that my window for terminating the pregnancy if the baby has Downs is very small.
  
  Also, I had vaginal bleeding in my 1st trimester, could this have impacted why my hcG levels were so high? Why such a discrepancy between my hgc and other measurements?
  
  Thank you so much!
  Katie

   

• At Fri May 02, 10:11:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Katie: You need to find someone who can do a 'targeted ultrasound' on you ASAP and if there are any abnormal findings at that time, consider an amniocentesis with rapid FISH (fluourescent in situ hybridization) studies done for common chromosomal abnormalities such as Down syndrome. You haven't got a lot of time, but the odds are that the baby is okay! Thanks for writing and let us know what you find out. Dr T

   

• At Fri May 02, 10:19:00 AM 2008,  Katie said…

  Thanks, I am getting the targeted ultrasound today. I'll let you know. Even if the ultrasound comes back ok, should i not proceed with the amnio due to the high hcg? is there additional risks at 23 weeks with an amnio?
  
  thanks.

   

• At Fri May 02, 04:02:00 PM 2008,  Anonymous said…

  Dear Dr Trofatter - I have had an NT but Dob't really understand the results.
  
  Gestation age 12 weeks
  CRL 52mm
  NT 1.9mm
  nasal bone present
  facial angle 80 degrees
  heart fine
  
  But bloods
  
  Freee beta HCG 1.3510 MoM
  PAPP-A 0.4867
  
  Should I be concerned?
  Many Thanks

   

• At Fri May 02, 05:00:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Katie: I would not proceed based on the hCG alone. If the ultrasound is normal at this point with no major abnormalities or 'soft markers' for Down syndrome, your risk is reduced at least 60-80% ( I actually quote people 90%). This would put you in the risk range of 1 in 400. Now if you just HAVE to know anyway, then proceed with the amniocentesis, because you are the one who will have to live with your decisions. The risk should not be any greater in experienced hands at 23 weeks. Dr T

   

• At Fri May 02, 05:03:00 PM 2008,  Katie said…

  Thank you. The did find one soft marker which was that the femur is 1 week behind, so i have proceeded with the amnio. It was not that bad. I will let you know the results .. we find out in 2 days (Monday).
  
  Do you know how much 1 soft marker increases my risk?
  
  Thank you.

   

• At Mon May 05, 01:54:00 PM 2008,  Katie said…

  Dr T,
  
  Just wanted to let you know we got back the FISH Amnio and all is fine. Thanks so much for your advice.
  
  Cheers,
  Katie

   

• At Tue May 06, 02:50:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Katie May 2: It depends on the soft marker! Choroid plexus cysts and echogenic intracardiac foci, not much. Thickened nuchal skin fold and absent nasal bone, a lot more. Dr T

   

• At Tue May 06, 02:51:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Katie May 5: CONGRATULATIONS! I am so happy for you. Take it easy the rest of the pregnancy and let us know how things turn out. Dr T

   

• At Tue May 06, 03:49:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous May 2: What were the risk assessment results for Down syndrome and for trisomies18/13? I imagine the latter were low based on the numbers, but I cannot interpret your Down's risk based on the numbers alone. That is what the 'big computer in the lab' does for us. Let me know! Dr T

   

• At Sat May 10, 07:26:00 AM 2008,  Ellen said…

  Dr. Trofatter,
  
  Today I received the results of my first trimester screening: a risk of 1:304 for Down's. I'm 33 years old and are quite slim.
  
  Gestation: 12w3d
  CRL 6.22 mm
  NT 1.7 mm
  Nasal bone is present
  Free beta hCG 4.190 MoM
  PAPP-A 0.840 MoM
  
  The extreme high score on the hCG scared me a lot. I know one is not 'allowed' to just research one marker, but is there anything I should talk about with my midwife (who is not in the same hospital)?
  
  Thank you for your time!

   

• At Sat May 10, 02:28:00 PM 2008,  Paul said…

  Thanks for a very useful blog. I'd like to get your view on my wife's current position which has put us in something of a dilemma!
  My wife is 33 years old, non-smoker who is currently 14 weeks (pregnancy was IVF). We currently have one daughter who was a natural conception (delivered at 32 weeks...wife had severe pre-eclampsia).
  She attended her local acute hospital for a NT scan at 12w3d and was given a measurement of 1.9mm. Blood was taken and sent to another hospital for testing. The result came back with low PAPP-A 0.29 and high HCG 30.1 (do not know MoM for these) resulting in a combined screening risk score of 1:24 for chromosomal abnormailities. There had been some confusion over the paperwork, and we decided to be referred for a second test to St Thomas's hospital in London. They carried out a scan at 13weeks which showed 2.1mm and nasal bone present and resulted in a score of 1:750. They could not take bloods at the time because my wife had been spotting for three continuous weeks and had only stopped six days previously. The protocol for the pathology dept at St Bartholomews Hospital (where St Thomas's send their bloods) requires that their has been no bleeding for the previous seven days (not mentioned at our original hospital). Therefore bloods were taken at 13w4d. We have just had the combined risk score back and it shows 1:5100 !!! They have said that the bloods are in line with the NT results.
  My question therefore is how can we have such a diverse risk range for the two tests? Would the spotting have made a difference (my wife has a sub-chorionic haematoma which they believed was the cause), would blood pressure effect it (wife has hypertension, but BP was lower for second test)?
  
  As you can imagine we are in a real dilemma as to whether we risk an amnio or not. Any view you have would be greatly appreciated.

   

• At Tue May 13, 06:30:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Paul: You are in a dilemma and I am afraid I won't be much help. Bleeding can affect the test results if it also affects the ability of the placental tissues to make the serum mrakers (PAPP-A and hCG). But, the other side of that is that sometimes bleeding is the result of a chromosomally abnormal pregnancy that is trying to miscarry early (see this is even MORE complicate now that you have asked me!). However, I must admit, I am very reassured by the follow-up studies, so my suggestion is to anticipate the best, get a high quality ultrasound done at 18-20 weeks to look for any suggestion of a fetal chromosomal abnormality, and hold off any decision regarding an amniocentesis for fetal diagnosis until then because the risk of this is increased in the presence of bleeding as well. Good luck, Paul and let us know how things turn out! Dr T

   

• At Tue May 13, 06:46:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Ellen May 10: That hCG is VERY high and it is probably the only reason your risk is even slightly elevated over your 'age alone risk' for Down syndrome. All the other values are well within the normal range and overall, the composite 'risk assessment' is quite reassuring. I think, rather than simply discussing this with your midwife, you might consider asking for a consultation with a Maternal-Fetal Medicine specialist. Good luck and let us know what you find out. Dr T

   

• At Thu May 15, 06:37:00 AM 2008,  Anonymous said…

  Dr. Trofatter,
  
  I initially posted on 04/21 after receiving my first trimester NT results. My DS risk after the first part of the screening was determined to be 1:1300. I had high PAPP-A and high hCG, plus a borderline high NT measurement. I will be 29 when I deliver.
  
  I just got the second trimester results, and unfortunately they are not nearly as good:
  
  AFP 0.52 MoM
  hCG 2.02 MoM
  UE3 1.30 MoM
  Inhibin 2.13 MoM
  
  These results raised my risk of DS to 1:85. I've done some reading, and all my levels (except the UE3) seem terrible.
  
  I have a couple of questions:
  
  1. would you recommend an amnio? I am currently 17 weeks pregnant.
  
  2. If the fetus does not have DS or another chomosomal problem, are these numbers indicative of any other kind of problem?
  
  Thank you,
  Tara

   

• At Fri May 16, 02:48:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Tara: For peace of mind, you should seriously consider having the amnio. If that is normal, the higher hCG levels may simply indicate a larger placenta and that may increase your risk for a bigger baby and gestational diabetes, but we are real good at finding that and treating it during pregnancy. I reall would like to know what you decide to do and what you find out, so PLEASE write back! Best of luck. Dr T

   

• At Wed May 28, 02:07:00 PM 2008,  Anonymous said…

  Hi Dr. T,
  
  This is Tara from 04/21 and 05/15. I just wanted to give you an update. I had an amnio on 05/16, and I just received the final results today: no DS and no other chromosomal abnormalities!
  
  Needless to say, I am very relieved. Thank you so much for taking the time to respond to my questions and concerns.

   

• At Thu May 29, 02:22:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Tara: Congratulations! And, thank you for the kind words and for letting us know what happened. Best of luck for thr rest of the pregnancy. Dr T

   

• At Fri Jun 13, 08:16:00 AM 2008,  Anonymous said…

  Hello Dr. Trofatter,
  I just got my first trimester screening results, and was pleased to discover my risk for Downs is 1 in 50,000. My bhCG was ).71 MOM, NT 1.4 mm, and PAPP-A 3.33 MOM. I'm wondering what causes such a high PAPP-A level, and if it's anything to worry about? I'm 28 and this is my first baby, though I did have a miscarriage at 6 weeks 8 weeks before getting pregnant this time.
  Thanks,
  Jenn

   

• At Fri Jun 13, 02:39:00 PM 2008,  Anonymous said…

  Dear Dr Trofatter,
  
  I'm 35, first pregnancy (13th week) and I had my nuchal translucency scan today. The scan findings were normal, but unfortunately test results for certain blood markers were not normal (Free beta-hCG 3.71 MoM and PAPP-A 0.22 MoM). Trisomy 21 risk was then assessed as 1:30. I am very concerned about the markers readings. Can they be influenced by the following reasons? 1) Hypertension? - I was diagnosed with hypertension approx. 9 months prior my pregnancy (I had readings up to 198/145). A cause of my hypertension was not found. Now on Labetalol, 100 mg twice/day, which generally keeps it within normal range). 2) Cancer? - My mother died on uterus cancer last year, also two of my female relatives had breast cancer, one of them died age 33. 3) Cyst? - A cyst has been found on one of my ovaries recently. 4) Female hormonal disbalance? - I did not have menstruation until age of 18 due to immaturity of my reproductive organs, so I was taking hormonal medication for several years to fix this.
  I should also note that I do not have diabetes, a problem with my thyroid and I have never smoked. My current weight is 88 kg, height 173cm and I am generally fit.
  I would like to undertake amniocentesis or CVS as soon as possible to have more information, however I would appreciate it if you can please give me your opinion. Thank you very much.

   

• At Sat Jun 14, 07:51:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Jenn June 13: There are various factors that can be associated with an elevated PAPP-A (e.g., twins, a large placenta, and others), but The combined screening results were fantastic and there are many more problems associated with LOW PAPP-A than high. Best wishes for the rest of the pregnancy. Dr T

   

• At Sat Jun 14, 07:54:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anaonymous June 13: None of those conditions are clearly associated with that combination of serum marker abnormalities. If you have the option to have CVS performed, then I would encourage you to do so. Good luck and let us know what you find out. Dr T

   

• At Tue Jun 24, 07:32:00 AM 2008,  Anonymous said…

  Dear Dr Trofatter,
  After a very high risk result from HCG/PAPP-A screening, I have to make a choice between CVS now or amniocentesis later (I am in the UK) - the CVS has a higher risk of miscarriage. This is a much wanted IVF pregnancy, and I have had a previous miscarriage, so I dont want to take any chances. On the other hand, my results are not encouraging:
  FbetaHCG - 4.7 MoM
  PAPP-A - 0.68 MoM
  NT - 1.9 MoM
  The lab put me in the highest risk bracket.
  I am so upset - I don't know if I can wait two weeks for the amnio. Any advice? Thanks, Jola.

   

• At Wed Jun 25, 01:15:00 AM 2008,  Anonymous said…

  Hi - It's Jola again - I just realised that I did not leave my age or gestation - I'm 36, and the tests were done at 12 weeks 6 days. I'm slim, non-smoker.
  I also realised that this is quite an old thread, so you may be done with it - but thanks anyway for a great blog!
  Jola

   

• At Wed Jun 25, 12:59:00 PM 2008,  Anonymous said…

  Dear Dr. Trofatter,
  
  I am 34 years old, obese, have mild hypertension and hypothyroidism. In addition I have been treated for PCOS/insulin resistance for the past three years with metformin and have a history of ovarian cysts.
  
  Right now I am 12 weeks 3 days along in my pregnancy. I had an elective abortion at age 22, but this is the first pregnancy I have had since then.
  
  I have received my first trimester combined screening result and they have said I have an extremely high risk of DS - 1:5.
  
  My scores are as follows:
  
  NT: 2.5 mm
  Free B hCG: 3.58 MoM
  PAPP-A: .62 MoM
  Nasal bone was present at 11 week sonogram (when they took the blood as well)
  
  They are recommending I do a CVS ASAP. I am wondering if you can shed light on why my risk is so high based on these scores and how you recommend I proceed.
  
  Thank you in advance for you help.

   

• At Thu Jun 26, 10:21:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Jola: Your decision depends entirely on how fast YOU need to know one way or the other. The hCG is very high, but I wonder if that might not also be some affect of the hormonal therapy to support you IVF pregnancy. You should ask your REI doctor about that! On the other hand, YOU are at no risk yourself at this time, and the amniocentesis at 15--16 weeks is somewhat safer than the CVS. Wish I could make the decision for you, but I can't. Good luck and let us know how things turn out. Dr T

   

• At Thu Jun 26, 10:21:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Jola: Your decision depends entirely on how fast YOU need to know one way or the other. The hCG is very high, but I wonder if that might not also be some affect of the hormonal therapy to support you IVF pregnancy. You should ask your REI doctor about that! On the other hand, YOU are at no risk yourself at this time, and the amniocentesis at 15--16 weeks is somewhat safer than the CVS. Wish I could make the decision for you, but I can't. Good luck and let us know how things turn out. Dr T

   

• At Thu Jun 26, 06:59:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous June 25; Your risk is being driven by your age, the relatively wide NT, the high hCH and the comparatively low PAPP-A. We would ordinarily offer you CVS under these circumstances and if you chose not do do that, then an amniocentesis at about 16 weeks.
  Dr T

   

• At Sat Jun 28, 01:21:00 AM 2008,  Anonymous said…

  Thank you for your reply Dr T. I have decided to wait for the amnio. I also wondered about the effect of IVF on my hormone levels - and I did ask the Dr, but she said that there was not enough evidence to say anything clear. I found one article that makes this suggestion (Journal of Assisted Reproduction and Genetics, PP066-295859 March 22, 2001), but not much else. Of course, I am desperately hoping that that is whhat explains my high HCG.
  Jola

   

• At Sat Jun 28, 09:35:00 PM 2008,  Anonymous said…

  hi Dr Trofatter
  
  I have just gotten my first trimester prenatal screening results as follows:
  
  Age: 28
  singleton preg
  CRL: 60.6mm
  NT: 2mm
  free beta hcG: 0.744MoM
  PAPP-A: 0.2242MoM
  
  maternal age related risk for tri 21 is 1:756
  adjusted risk for Tri 21 is 1:214 (risk cut off > or = 300)
  
  hence i am put under high risk, y?

   

• At Wed Jul 02, 05:11:00 PM 2008,  Anonymous said…

  Hello Dr. Trofatter: Here are the results I received today:
  NT: 1.28 MoM
  PAPP-A: 0.34 MoM
  hcG: 0.88 MoM
  
  Gestation at sample date(yesterday): 12w 4d by date, 13w 1d by CRL scan.
  
  I am 115 lbs, (non-smoker, slender)and will be 38.4 at delivery. We conceived through an IUI with Femara as stimulation, and the Ovadrel hcG injection. Risk of DS: 1 in 130.
  "abnormal" result.
  
  I am reading that the fact assisted reproduction (with hcG trigger shot) was utilized, this could account for higher hcG and lower PAPP-A? Was also told before the tests that age alone put DS risk at 1 in 85 so slightly encouraged that risk lowered somewhat but still concerned. Please advise.
  
  Thank you so much. ~Kim

   

• At Thu Jul 03, 04:22:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Jola June 28: Thanks for letting us know and best of wishes. Dr T

   

• At Thu Jul 03, 04:28:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous June 28: Your risk is still only 1 in 214. That means it would be expected that 213 of 214 would NOT have Down syndrome. The "screen positive" risk in the laboratory your doctor used has a cutoff of anything more than 1 in 300 (so you are "screen positive"), but that does NOT make your risk any greater than 1 in 214. Normally with a risk in that range, we would still offer you an amniocentesis, but most patients simply opt to have a good ultrasound done at 18-20 weeks. If that is completely 'normal', your risk is reduced by as much as 90% further. The choice is yours! Best of luck. Dr T

   

• At Thu Jul 03, 04:32:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Kim July 2: Your "risk" is being driven by your age and the low PAPP-A. That could be the result of chance, your history of infertility (and whatever contributed to that), your infertility therapy, or a baby with a chromosomal abnormality. The risk result you got is better than that based on age alone. You are in that intermediate zone of concern. You ceratinly could have an amnio done or you could simply wait and have a good 'genetic sonogram' done at 18-20 weeks. If that is completely 'normal', your risk is reduced by as much as 90%. It's your choice in the end. Best of luck! Dr T

   

• At Fri Jul 04, 06:33:00 AM 2008,  Anonymous said…

  Dr. T~ Thank you very much for your prompt reply, extremely helpful insight, and interactive website with so many people who are seeking in-depth knowledge of their particular situation.
  
  As a follow-up to your response to my July 2nd information, I feel compelled to share additional information for your review/comment. I have Hashimoto's, and have also tested positive for the MTHFR A1298C gene. Taking Nature Throid and a special Folinic Acid/b-12 supplement both prescribed by holistic doctor.
  
  Prior to this current first viable pregnancy, we have undergone nearly five years of emotionally taxing infertility treatments, including 3 IVFs between late 2006-mid 2007 (one miscarriage @ 6w, one chemical pregnancy/loss, and one negative result). I have had two laparoscopies (one 3 yrs ago: mild endo; the other late 2007: Stage 4 endo plus had appendix removed laproscopically). Hysteroscopies as well in past. Still have two small fibroids in the uterine wall (did not want laparatomy and possible complications from that). Neither is impinging on the endometrial cavity and both are away from the implantation site. Being monitored.
  
  Primary ovarian failure has been the biggest "contributor" I have been told. FSH lately had been around 11.4, previously had gotten as high as 14-15 if I remember correctly.
  
  Also being treated by out of state reproductive specialist (also have primary specialist in my area) for antibodies (a couple of APA's including anti-ovarian antibody were borderline or slightly high, besides the anti-thyroid which are high). Treated with IVIG after positive beta with this pregnancy in May, and again in June. Daily Lovanox injections as well.
  
  Could any of these items have an effect on my screen results? If we decide to proceed with an amnio, what are the statistical risks and is there a way to determine if someone is more experienced at the procedure?
  
  I am trying to remain positive that we are dealing with a less than 1% chance of a potential issue but want to make the best informed decision possible. It sounds like from your website that DS is not the only risk with a low PAPP-A and that concerns me as well. The ultrasound tech assured me at the scan that everything looked great so the bloodwork results were disappointing. I also do not know if 1.3mm; 1.28 MoM nuchal measurement backs up the tech's comments (70mm on 7/1/08, 13w1d by CRL, 12w4d by date).
  
  Thank you in advance for your time.
  
  Kim

   

• At Tue Jul 08, 12:08:00 PM 2008,  Anonymous said…

  Dear Dr Trofatter,
  
  I left you the following message on Fri Jun 13, 02:39:00 PM 2008,
  
  ‘I'm 35, first pregnancy (13th week) and I had my nuchal translucency scan today. The scan findings were normal, but unfortunately test results for certain blood markers were not normal (Free beta-hCG 3.71 MoM and PAPP-A 0.22 MoM). Trisomy 21 risk was then assessed as 1:30. I am very concerned about the markers readings. Can they be influenced by the following reasons? 1) Hypertension? - I was diagnosed with hypertension approx. 9 months prior my pregnancy (I had readings up to 198/145). A cause of my hypertension was not found. Now on Labetalol, 100 mg twice/day, which generally keeps it within normal range). 2) Cancer? - My mother died on uterus cancer last year, also two of my female relatives had breast cancer, one of them died age 33. 3) Cyst? - A cyst has been found on one of my ovaries recently. 4) Female hormonal disbalance? - I did not have menstruation until age of 18 due to immaturity of my reproductive organs, so I was taking hormonal medication for several years to fix this.
  I should also note that I do not have diabetes, a problem with my thyroid and I have never smoked. My current weight is 88 kg, height 173cm and I am generally fit.
  I would like to undertake amniocentesis or CVS as soon as possible to have more information, however I would appreciate it if you can please give me your opinion. Thank you very much.’
  
  New message: I have had my CVS recently and the test results were fine for the whole range of syndromes tested. I am still very concerned why were the markers tested with abnormal concentrations. Is the baby OK? Is the placenta working OK? Am I OK? Could you please advise me on this? Thank you very much. Eve

   

• At Sat Jul 12, 04:58:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Kim: With the added medical history you have provided, and your risk of ovarian failure, this may well be your only shot at a good pregnancy. No matter how low the risk of an amniocentesis, if this baby looks 'normal' by ultrasound, it would be hard to justify doing one. If you lost the baby following the procedure, the overwhelming odds are that you would be losing a normal baby. You are more likely to have a small or less well-vascularized placenta as the cause of the low PAPP-A than a baby with a chromosomal abnormality. This will put you at increased risk for a smaller baby, pregnancy-induced hypertensive complications, and early delivery. Please let us know how things turn out! Best of luck! Dr T

   

• At Sat Jul 12, 05:02:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Eve: Congratulations on the amnio results. That was an important first step. Your abnormal PAPP-A result is most likely the consequence of a small or poorly vascularized placenta (and that may well be the result of your other medical problems). This increases your risk for poor fetal growth, superimposed preeclampsia, and early delivery. Your doctors will be watching you carefull for these conditions once you get beyond 20 weeks. Doppler flow studies on the uterine arteries (and late on the baby) can provide some information regarding the placenta and, eventually, the baby's status. Good luck and please let us know how things turn out. Dr T

   

• At Thu Jul 24, 07:18:00 PM 2008,  Anonymous said…

  Dear Dr Trofatter
  
  I did a first trimester screening at week 12 and had the following results. I am 29 and slim and this is my first pregnacy.
  CRL 56.2mm
  NT 3.3mm
  FB-hCG 1.916MoM
  PAPP-A 1.8168MoM
  Risk of Trisomy 21 1/210
  
  I realised my NT and hCG doesn't look good, but my PAPP-A is encouraging. Is this high PAPP-A impossible if the child has DS?
  
  My 2nd question. In some mails, you mentioned a "good ultrasound" and a "good genetic sonogram" at 18 weeks. How do they differ from a normal ultrasound scan?
  
  My 3rd question. After this ultrasound or sonogram, how much time is needed to generate the results? Are they definitive? How risky is an abortion at this stage if the result is positive?
  
  Thanks in adv,
  Sharon

   

• At Wed Jul 30, 01:20:00 PM 2008,  Anonymous said…

  Dr Trofatter,
  Thank you very much for your email dated Sat Jul 12, 05:02:00 PM 2008.
  I followed your advice and being pregnant for 19 weeks I contacted NHS (National Health Service in Great Britain) specialist to get information on how my placenta and the umbilical cord work (Doppler test) and scanning of baby’s growth. It was not possible to do it via NHS so I went to see a private specialist and he did the Doppler testing and scanning of baby’s growth. Everything was fine in terms of the baby growth and my placenta (placenta was just slightly smaller then usual).
  I am a little bit concerned that maybe I and my baby will not receive enough testing after 20th week of my pregnancy via NHS despite my high blood pressure history and unusual PAPP-A and Free beta-hCG readings. I was told that the next baby growth scan will be carried out at 32 weeks and no Doppler test will be carried out during my pregnancy, unless the scans indicate unusual baby growth. Because this I am thinking to see a specialist privately to get more regular information on the placenta functioning (using Doppler test) and growth of the baby, say once per month? What is your opinion on this? What is the normal approach in the USA and frequency of scan / testing for pregnant women with my conditions?
  
  Thank you very much for your help. Kind regards. Eve

   

• At Thu Aug 07, 04:30:00 AM 2008,  Anonymous said…

  Dr. Trofatter,
  
  Thanks for providing feedback:
  
  I am 38 yoa and weigh 209 lbs.
  
  My 15.5 week results are as follows:
  
  NT 0.73 MoM
  PAPP-A 0.78 MoM
  AFP 0.64 MoM
  HCG 2.86 MoM
  UE3 0.46 MoM
  Inhibin 1.60 MoM
  
  Where I am confused, my doctor claims these numbers are OK but when put together, I have a 1:10 risk for DS. I had the amnio yesterday. I know the NT number is good but the AFP and HCG have me concerned. Even individually, aren't these numbers not very good?
  
  Tracey

   

• At Thu Aug 07, 11:24:00 AM 2008,  Anonymous said…

  Tracey additional comment:
  
  My last two births were macrosomic 10lb and 9.5 and history of gestational diabetes.

   

• At Thu Aug 07, 05:43:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Sharon: I thought I had already responded to your question?!? Anyway, it is not impossible, but less likely the baby has Down syndrome with a normal to elevated PAPP-A. High level ultrasounds, regardless of what you call them, differ from standard studies by the completeness of the examination and the training, skill and expertise of the examiner - not the sophistication of the ultrasound equipment (although a great machine helps!). Whoever performs this study should be able to provide you with immediate feedback as to whether major abnormalities or 'soft markers' for a chromosmal abnormality are present. An ultrasound is still just a SCREENING test. Ir cannot give you definitive results as to whether or not the baby has a chromosomal abnormality, but it can be used to adjust your risk. You will have to decide, based on all the information you are provided, if you need to have an amniocentesis done to give you that definitive diagnosis! Good luck and please let us know how things turn out.

   

• At Thu Aug 07, 05:46:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Eve July 30: Unfortunately there is no 'standard of care' for monitoring women in your situation. I would generally repeat the fetal growth and perform fetal Doppler flow studies at 26-28 weeks and then decide on the need for additional studies based on the findings at that time. But, different places have different approaches and you will have to have some faith in the expertise of the consultant you are seeing. Good luck and please keep us informed of your progress! Dr T

   

• At Thu Aug 07, 05:50:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Tracey: Probably the greatest factors drivng your risk are the elevated hCG and your age. In view of the large babies you have had, you may just be heading in that direction again and the hCG result may simply be the consequence of a big placenta. Regardless, the composite results are what they are and you have already had the amnio done. Hang in there and please let us know what you find out. Best wishes, Dr T

   

• At Sat Aug 09, 09:48:00 AM 2008,  Alison D. said…

  Dr. Trofatter,
  
  My first trimester screen took place at 11W6D. The ultrasound was normal and a nasal bone was present. The results of the screen were:
  
  1.5mm NT
  2.02 MoM free B hCG
  0.58 MoM Papp-a
  
  I will be 34y9mo at the due date. My pre-screen age-based risk for DS was 1/319 and post-screen is 1/155. I have a number of factors that I thought might influence the results, however I could not get any answers from the genetic counselor.
  
  1) IVF pregnancy (1 embryo implanted) with Bravelle, Menopur, and Novarel. High estrogen during stimulation and had to coast for a few days prior to HCG trigger.
  2) High HCG at 13, 15, and 21 days past embryo retrieval. Also positive home pregnancy test at 10 days. Was told this meant twins or just a very healthy pregnancy.
  3) Possible vanishing (identical) twin, sac remnants discovered on ultrasound at 6W5D.
  4) Subchorionic bleed discovered at 9W2D due to heavy bleeding (confirmed via ultrasound). Some confusion now as to whether vanishing twin was really that or the beginning of the bleed, or if bleed was twin being expelled.
  
  All the genetic counselor could tell me is that maybe my history was affecting the results but she couldn't say one way or the other. She also couldn't tell me if amnio was riskier given the subchorionic bleed and previous uterine surgery for a septum, polyp, and scar tissue.
  
  We decided to have the targeted ultrasound (scheduled for 17W2D) and possibly amnio that day. I know the targeted ultrasound is not the best diagnostic tool so I'm trying to get a better idea of my true risk before deciding to undergo amnio.
  
  Thanks!

   

• At Sat Aug 09, 09:58:00 AM 2008,  Alison D. said…

  Dr. Trofatter,
  
  This is a p.s. to my post of a few minutes ago. I forgot to mention that I have IgA Nephropathy. I do not know if that is relevant or not.

   

• At Sat Aug 09, 11:39:00 AM 2008,  Anonymous said…

  Hello Dr. Trofatter~
  As an update (Kim July 2nd), my 17 wk AFP test was 1.29 MoM, and the 18 wk 1 day ultrasound (both tech and doctor looked separately) was great (no issues/soft markers at all and good measurements). We are so happy with this news! I found it interesting that the doctor said that the good u/s result reduced the risk of a chromosomal abnormality by only 50% and that if we did opt for the ultrasound, there was a 1 in 1600-2000 risk of miscarriage (vs. 1 in 200 from what I have previously heard). While we will most likely opt to not have the amnio, I was surprised at the quoted low % reduction of an abnormality and the stated lower risk of amnio complication. I believe you indicated it would reduce risk by 80-90%, and also wanted your opinion on the amnio statistic.
  
  Also, because they are still categorizing me as "high risk" due to the antibody issues (and "advanced maternal age" (38), I will most likely be getting another u/s in approx. 6 wks, and every month thereafter. My APAs were heading in the right direction as of recent blood test (one positive, one borderline v. three positive previous time), as well as anti-thyroid antibodies (one reduced to 150ish from the 900 level, the other normalized). Would you comment on the likelihood of hypertensive complications (I normally have low BP, work out consistently, slender). Is there anything I can do to mitigate the risk? I assume it is still ok to continue exercising?
  
  Thank you, I appreciate your blog very much. ~Kim

   

• At Tue Aug 12, 11:49:00 AM 2008,  AnaColovic said…

  Dear Dr. Trofatter,
  I am wondering if you could let me know what you think of these results. Today we had the screening done, and it came up with the following:
  
  
  PAPP-A 0,32 MoM
  
  
  fb- hCG- 2,16 MoM
  
  
  the risk was estimated to 1:110 for Down.
  
  
  On the echo, the NT was 2,0 mm and the crown rump length was 69 mm.
  
  
  My doctor said that the baby was developing just fine and that he would say that amnio would be a higher risk than the baby turning up with a Down.
  
  
  I am worried and I do not know what to do next. Please advise,
  
  
  Ana from Macedonia

   

• At Thu Aug 14, 11:36:00 AM 2008,  AnaColovic said…

  Hello again,
  
  I couldn't wait a day longer so yesterday I had an ultrasound (by the way, I am 13 weeks pregnant, I forgot to mention it).
  
  The nasal bone was visible, NT was 1,4, and the doctor made measurements (ductus venosus, Doppler, flow) and said everything was normal.
  
  I am worried about my blood test results and what they actually mean if everything looks OK on the ultrasound. I read a lot about the low PAPP-A levels and what they might mean. I am still worried.
  
  Best,
  
  Ana

   

• At Sat Aug 16, 03:55:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Alison Aug 9: Sorry for the delay in answering. I think you have a number of mitigating factors that decrease the likelhood your baby has Down syndrome and INCREASE the risk of amniocentesis. Many women with your risk in first trimester simply opt to have a careful ultrasound done as you have planned, knowing that a 'normal' scan at that time reduces their risk at least by 50%. By that time as well, your risk for the amniocentesis might be a little lower. I have no information as to how your IgA nephropathy might influence the maternal serum marker results. Best wishes and please let us know how things turn out! Dr T

   

• At Sat Aug 16, 04:02:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Kim: The risk of an amniocentesis is based on the skill, experience , and the technique of the person performing the study. I know my risk is in the range your doctor has quoted, but others may have a risk closer to 1 in 200 or even worse. I have gotten to the point where I typically tell patients that a completely 'normal' targeted ultrasound reduces their a priori risk for aneuploidy by at least 50% and tell them also that it could be as high as 60-80%. With regard to hypertension, any woman has a 10-15% chance of a hypertensive complication during pregnancy - your risk is probably at least twice that. There is not much you can do to prevent that since the worse forms of pregnancy-induced hypertension are related to abnormalities of placentation. Exercise is good, but you might want to switch to activities that don't increase abdominal tension or leave you constantly gasping for breath! If I were you I would include some time for rest every single day as well. Good luck and let us know how things develop! Dr T

   

• At Sat Aug 16, 04:07:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Ana: The one thing you did not tell me is how old you are. Regardless, although the risk of amniocentesis depends on the person dooing the procedure, it is still probably at worst half the risk that your baby has Down syndrome. But, you have many reassuring findings as well. Your best option may be to wait to have a 'targeted' ultrasound done at 17-10 weeks. If everything looks 'normal' then, your risk is less than half the risk given to you by the first trimester screening. Good luck and let us know how things turn out! Dr T

   

• At Tue Aug 19, 09:28:00 AM 2008,  Anonymous said…

  Dr. Trofatter,
  
  This is Tracey again and I posted on August 7th. I just wanted to let you know that after 14 agonizing days, the amnio results returned today as normal, 46XY. Looks like another boy.
  
  Thanks again for your response and providing this forum. It helped to read other's stories.

   

• At Thu Aug 21, 01:17:00 PM 2008,  Anonymous said…

  Dr. Trofatter,
  
  I am 29 years old and weigh 134 lbs.
  
  My 12.0 week results (singleton pregnancy) are as follows:
  
  NT 1.5 mm
  PAPP-A 0.99 MoM (50th percentile)
  Free Beta HCG 4.89 MoM (99.9th percentile)
  CRL 59.9 mm
  nasal bone present
  FHR - 161 bpm
  uterus and ovaries normal
  
  My results indicated an increased risk for Down Syndrome (1:234). I am not sure about the PAPP-A numbers (50% seems to be within the norm?), but I was definitely shocked to see the extremely high HCG numbers and I am wondering if there is anything else besides Down Syndrome that could possibly cause such an elevation? Some (hopeful) speculations:
  
  My father is a fraternal twin, my maternal grandmother is a fraternal twin, and my maternal great-grandmother had 2 sets of fraternal twins. I am currently carrying one child (as far as I know) -- is vanishing twin possible?
  
  Could a large placenta be the cause of such a high number? The baby's measurements themselves seem to fall within the norm.
  
  My mother had placenta accreta when she delivered me, which I have read can be linked to high HCG levels in the second trimester. Is this a possibility?
  
  If you could shed some light on this situation, I would greatly appreciate it! Should I be worried? My husband and I are already worried sick, and we would really not like to have any invasive procedures done if at all possible. We have an appointment with a genetic counselor on Tuesday, 8/26, and I don't think I can even wait until then for a little bit of hope.
  
  Thank you so much - this blog has been so helpful already.
  
  Respectfully,
  Megan

   

• At Fri Aug 22, 05:44:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Tracey: Congratulations and thanks for letting me know. Best wishes for the rest of the pregnancy! Dr T

   

• At Sat Aug 23, 04:12:00 PM 2008,  Anonymous said…

  Dr. Trofatter,
  
  This is Megan from 8/21. I found out some interesting information to add to my previous post. In my research, I found that free beta hCG has thyroid-stimulating effects, and also that it may be structurally similar to thyroid stimulating hormone. It then occurred to me that my mother has hyperthyroidism. Her sisters, when pregnant, suffered from Hyperemesis Gravidarum - also linked to thyroid function.
  
  Is it possible that my extremely high free beta hCG level could be caused by a thyroid condition? Could the hCG level be "off" because of high levels of TSH during testing? Do you recommend seeing an endocrinologist to explore a possible connection?
  
  I'm hoping I've stumbled on something enlightening here...it certainly would provide me with some peace of mind to find a reason for the high free beta hCG level.
  
  Thanks again,
  Megan

   

• At Tue Aug 26, 06:09:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  Megan: One of the well-known complications of molar pregnancies (with very high hCG levels) is hyperthyroidism related to the cross-reactivity of hCG with TSH. In fact many women are diagnosed with "hyperthyroidism" in early pregnancy and begun on therapy that they really don't need. If you go to see an endocrinologist, make sure you see one who is experienced in dealing with pregnant women, particularly in the first and early second trimesters! Good luck and thanks for giving us your thoughst! Dr T

   

• At Wed Aug 27, 06:04:00 AM 2008,  Anonymous said…

  Dr. Trofatter,
  
  Sorry to bombard you with so many questions, but your response confused me a bit. Do I need to worry about a molar pregnancy at 13 weeks pregnant (which I am now)? I have already had two ultrasounds that show a "fully" formed baby, and we've heard the heartbeat. Is there a chance that I could lose this baby? Do you recommend amniocentesis at this point, or should I just wait until the next ultrasound to find out what's going on?
  
  Thank you again,
  Megan (original post - 8/21)

   

• At Wed Aug 27, 09:14:00 AM 2008,  AnaColovic said…

  Dear Dr. Trofatter,
  
  Thank you for your response. I am 29 years old, sorry I didn't mention it. We also decided to wait till week 17-18 and do another ultrasound and see what happens.
  
  I am just to afraid of amnio and I would do anything to avoid it. I will let you know the results once I have them.
  
  Many regards from Ana

   

• At Wed Sep 03, 06:28:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Ana: Thanks for letting me know. Wishing you the best! Dr T

   

• At Wed Sep 03, 11:18:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Megan: Sorry to confuse you. I was trying to make a point that when a molar prenancy is present, there are usually VERY high hCG levels and these cause the hyperthyroid picture you discussed. Some pregnancies in which there is a baby may also have high hCG levels secondary to a 'partial molar' component of the placenta. I doubt that is going on with you! Take care and thanks for being such an avid reader!
  Dr T

   

• At Fri Sep 05, 06:45:00 PM 2008,  Anonymous said…

  Hi Dr. Trofatter,
  
  I had a first trimester screening at 12.5 weeks. The nuchal translucency was 1.57mm and there was a nasal bone present. However, when the blood serum results came back, it increased my risk to 1:75 for DS. The PAPP-A was 1.05Mom, and the free beta was 2.5 MoM. I am 36 years old. I assume the risk increased due to the beta number. I had a targeted ultrasound this week (15.5 weeks) and no abnormalities or concerns were found. I have another one at 21 weeks. Should I be concerned with the HCG number alone? What could cause the high # (besides Down syndrome)
  
  Thanks so much,
  Shellie

   

• At Fri Sep 12, 03:09:00 PM 2008,  Paolo said…

  Hi Dr Trofatter, we have just had our 12 week scan results and my wife had a very high free beta HCG equivalent to 3.8618 MoM. Other results are CRL 57.6mm, NT 1.30mm, nasal bone present, PAPP-A equivalent to 1.2824 MoM. Adjusted risk for Trisomy 21 of 1:5350 and adjusted risk for Trisomy 13/18 of 1:9529, but the high free beta and the need for a 28 week scan casuing many sleepless nights. Paolo

   

• At Sat Sep 13, 08:11:00 PM 2008,  Anonymous said…

  Hi Dr.Trofatter,
  
  I'm so glad I found this website. I just got my first trimester screening and I'm worried about the results. I'm 33y.o 119lbs 13weeks,and got pregnant through IUI (1st try). Here are my results:
  
  PAPP-A 2244 (Mom 1.28)
  Nuchal Translucency 1.20 (Mom 1.12)
  HCG 72856 (Mom 1.03)
  Please explain the results for me. They said my DS risk based on NT,PAPP-A and HCG is less than 1 in 25. I'm really concerned. Please help me interpret these values and am I at a high risk for having a DS baby? Thank you.

   

• At Mon Sep 15, 04:42:00 AM 2008,  Anonymous said…

  Hi Dr. Trofatter,
  blogging you from the land down under - Australia. Your blog is by far the most useful I have come across. I am wondering if you could cast your expert eye over my 12 week scan results...
  
  I am currently 12 weeks 6 days.
  Overall risk is 1:552 with a breadown as follows:
  Age 31, non-smoker, slim/healthy weight.
  NT 1.55mm
  Nasal bone present
  free beta hcg 1.96 MoM
  PAPP-A 0.5371 MoM
  
  The last 2 variables are of most concern as I understand they are supposed to be closer to 1. And that higher b-hcg and lower papp-a are signs of problems.
  
  Other factors:
  I *think* I had a misscarriage the month before (period came around the right time but very very heavy). I had an elective pregnancy termination 8 months ago. I have genital herpes. I have had spotting for most of the 12 weeks. I got the flu in week 10 pregnancy but recovered within a week or so without medication.
  
  I am not sure which to be more concerned about...
  1. DS and having an Amnio / CVS (and the rates of misscarriage from this being higher than my 1:552 chance of DS).
  
  2. What else the high free b-hcg could mean?? (big concern!)
  
  3. If I should be worried with these numbers at all? Starting with the overall result of 1:552 and ending with the 1.9 b-hcg result.
  
  or all of the above??
  
  hoping to get a reply...

   

• At Tue Sep 16, 06:07:00 PM 2008,  mike said…

  Dr T:
  my 44 year old wife is pregnant with our fourth child, all healthy prev. she has a placenta previa which has been bleeding daily, occasionally very heavily. she has several 3-4 cm fibroids and always has a small placenta. no child has been over 7#
  
  at 13 weeks we found
  Nt 1.29MM
  free bhcg 5.5 MOM
  papp-1 0.76
  
  we are scheduled for an amnio in a week, my questions are:
  
  can bleeding cause elevated free hcg?
  is age alone driving the risk assessment of DS (we have been told 1/2 to 1/5 chance of DS)?
  
  thanks, Mike

   

• At Mon Sep 22, 05:39:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Shellie: Sorry for the delay in responding, but Healthline just sent me about 150 comments over the weekend from the past two weeks. Your risk must be being driven by the high hCG (and the difference between the MoMs for the hCG and the PAPP-A) and your age. Everything else looks very good, including the very reassuring PAPP-A. Sometimes increased hCGs are simply the result of a larger placental mass and they don't portend anything except a larger baby! I will be interested to hear how things turn out, so best wishes and please let us know! Dr T

   

• At Mon Sep 22, 05:44:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Paolo Sept 12: As I have told so many other readers, the strngth of the screening test is in the COMPOSITE result, not the individual numbers. The findings at the time of the first trimester ultrasound and the very reassuring risk assessment should be where you put your faith at this point. The elevated hCG might simply be the result of a lrgaer placenta that might increase your risk for a big baby! Best wishes and let us know how things turn out. Dr T

   

• At Mon Sep 22, 05:46:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Sept 13: Your risk assessment result based on the numbers you have provided to me makes absolutely NO SENSE. Either the numbers are wrong or they have confused you with another patient. There is no way at your age those results could give you a 1 in 25 risk for Down syndrome! Check it out and let me know what you find out. Dr. T

   

• At Mon Sep 22, 06:07:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous from Down Under: The composite result is the one to look at and NOT the individual tests. You will go crazy trying to sort those out. Normally, with the results you received, we would not recommend any invasive diagnostic study unless something suspicious was found at the time of an ultrasound at 18-20 weeks. Anyway, thanks for reading and plese let us know how things turn out! Dr T

   

• At Mon Sep 22, 06:37:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Mike: Your wife's age and the high hCG are driving her risk. The other numbers loofk good. However, the placenta previa could be contrubuting to the high hCG. I worry about the possibility of placenta accreta (where the placenta eats its way into the wall of the uterus and not just the inner lining of the uterus) under these circumstances. Your doctors may be able to detect the possibility of a placenta accreta by ultrasound. Anyway, good luck with things and please let us know how everything turns out. Dr T

   

• At Mon Sep 22, 09:14:00 AM 2008,  Anonymous said…

  I have a question about PAPPA measurements from blood. This blog speaks of MoM--which is reported in the literature many times. What about mIU/L and microgram/mL for PAPPA measurements which are also reported in the literature.
  I realize some of these other measurements likely are being done in a lab--but do you know what 15.0mIU/ corresponds to relative to microgram/mL and MoM?
  
  Any info will help me relate all these studies to one another.
  
  Nikolina

   

• At Mon Sep 22, 09:35:00 AM 2008,  Anonymous said…

  Not sure if my last post went through, but I wanted to knw the correlation between MoM, mIU/L and micrograms/mL from the literature on PAPPA.
  
  I realize there is not a handy conversion foru IU to molecular weight, but thought you may know an approximation presuming linearity between methods.
  
  Nikolina

   

• At Mon Sep 22, 10:49:00 AM 2008,  Anonymous said…

  Dear Dr Trofatter - please help - I am 25, my hCG is equivalent to 3.0098 MoM and the PAPP-A 0.1948 MoM. Nasal bone present - nuchal score 1.64 heart fine , development fine - they are offering CVS - how safe is this procedure - I am 13 weeks and 4 days gestation - do I need to be concerned about these readings? Your site is wonderful - couldn't believe you would take the time to answer everyone - I like in the UK
  
  Thanks so much - hope to hear from you - 'desperate'

   

• At Mon Sep 22, 02:21:00 PM 2008,  Anonymous said…

  Dear Doctor:
  Thank you fro you time and feedback. I received early screening results a week ago and have been worried and trying to find information before my amnio in 2 weeks.
  Results:
  Hcg: 99%ile
  PAPP: 70% ile
  Neck: .24mm above average
  My age: 37
  Previous normal pregnancy, no abortions, miscarriages.
  Risk: 1/224 for DS
  
  I would appreciate your thoughts regarding my risk/need for amnio. I am 14 weeks along. What would cause such a high Hcg with a normal PAPP, and slightly increased neck thickness?
  
  Thank you.
  Rose

   

• At Thu Sep 25, 11:54:00 AM 2008,  Alan said…

  Dr Trofatter,
  
  Like others my wife has also had a high hCG reading following a combined ultrasound and biochemical screening. This has left us really concerned and wondering whether further testing is required. We are not too keen on having an amnio but feel worried that maybe we should. My wifes maternal age at EDD is 39 years. Her nuchal translucency is 1.24 MoM, her beta hCG is 500.3 (11.13 MoM) and her PAPP-A is 1413 (1.26 MoM). The combined test has given us a 1:77 chance of Down's Syndrome. We have been offered a diagnostic test. We are aware of the slight risks in pursuing this and are wondering if there are other factors that may explain the isolated high hCG reading. For example, we have a 6 year old son and my wife's previous pregnancy followed a very similar pattern of high levels of sickness which was attributed to high levels of pregnancy hormone. At delivery it was commented upon by the obstetrician that the placenta was enormous (not her exact words). My wife has had three miscarriages over the last year - all biochemical. hCG levels were negligable last time these were measured prior to this pregnancy. She also has a fibroid which we are concerned may effect the functioning of the placenta. The high risk midwife (uk) is advising an amnio and regardless of whether we go ahead with that, regular monitoring of hCG with scan to check to functioning of the placenta. We are also wondering whether we should wait to have a follow up reading of hCG at 16 weeks before deciding to go ahead with an amnio. Grateful for your advice.
  
  Alan

   

• At Thu Sep 25, 04:16:00 PM 2008,  Sarah said…

  Hi Dr. Trofatter
  
  This is definitely the most useful site I've found on this issue. I am about to turn 40, and am in my 4th pregnancy (none of the first three stuck - two missed miscarriages and a blighted ovum). My NT scan was done on day 12 and the overall results are as follows:
  
  CRL: 53 mm
  NT: 1.6
  Beta HCG: 3.1
  
  The genetics counsellor didn't mention the PPA result but said that the red flag was the HCG. My risk factor has been assessed as 1/69, which I'm fairly distressed about after getting a good NT result.I'm scheduled for amnio in 3 weeks.
  
  The counsellor said that sometimes the HCG may be elevated due to placental issues, which can be identified by ultrasound. However, most of the websites I've been looking at seem to suggest that a very small percentage (i.e. 5%) of normal pregnancies will have a number that high...which is significantly more discouraging than the 1/69 risk.
  
  I'd be interested in your thoughts.
  
  Sarah

   

• At Fri Oct 03, 09:57:00 PM 2008,  Anonymous said…

  Hi Dr T,
  
  I just got the results from some blood work from a first trimester screening. I was told nuchal scan came out great. The nuchal fold was 2.0 mm and the nasal bone was there. However, regarding the blood-work...my hcg was 2.8 MoM (98th percentile) and the PAPP-A was .73 MoM (30th percentile). I was told my risk for Down's Syndrome is now equal to a 40-year-old woman (1:89). I am concerned about that, but I am also concerned about a whole host of complications that I was told are associated with my blood results. Placenta issues, fetal growth issues, etc. How likely is an undesirable outcome with my numbers? In other words, I know there is an increased risk...but do most mothers still turn out having healthy children with these numbers? Also, which number is more important? The hcg or the PAPP-A? Also, I was told my gestational age during the testing was 13 weeks. The doctor assessed this by measurements taken during ultrasound. How accurate are these measurements? I understand there is an "average" size of the fetus at end day of my pregnancy...but are all babies this same magical size? Also, I am 34 and suffered from a prior miscarriage last April. I am due to give birth this next April 3rd when I'm 35. Thank you. I really enjoy your blog.

   

• At Mon Oct 06, 04:15:00 PM 2008,  Anonymous said…

  Dear Doctor T.:
  In my first trimester screening, I received an elevated hcg reading (at the 99%ile). Is hcg something that should be monitored throughout the pregnancy when it comes out this high? Or is the baby's well-being monitored through other means? In your experience, what percentage of mothers with significantly elevated hcg levels are able to maintain a healthy pregnancy and deliver healthy babies? I've read about a lot of potential concerns with elevated hcg. I'm only 16 weeks along. So far, I've noticed more nausea than my previous pregnancy (which had normal hcg levels).
  Thank you so much. I appreciate your expertise and time.
  Summer

   

• At Mon Oct 06, 07:25:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To nikolina: Multiples of the median (MoM) are used because the normal ranges for the serum markers such as PAPP-A vary by theweeks gestational age. That way you are compared to all other women at each gestational age. So, no, I do not know how to interpret the actual result in mIU/mL! Dr T

   

• At Mon Oct 06, 07:30:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Sept 22: I apologize for not answering sooner, but I just received your question in my mailbox today. Those results are disturbing because of the very high hCG and the very low PAPP-A. That is a pattern that is frequently seen in Down syndrome and an indication for either CVS or an amniocentesis. What was the risk for Down syndrome these results gave to you? Risks commonly quoted are 1 in 100-200 risk fro CVS and a 1 in 250-500 risk for an amniocentesis. Let us know what you ind out and agian, I am sorry for not getting back to you sooner. Best of luck. Dr T

   

• At Mon Oct 06, 07:35:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Rose: Your age alone risk for Down syndrome in first trimester is about 1 in 133, so your results are half your age alone risk. That is VERY reassuring. You are still considered to be "screen positive" because the risk is greater than 1 in 270 (or whatever your doctor's lab uses for a cutoff). But the number is what it is and the odds are in your favor that this baby is chromosomally normal. Both the hCG and the PAPP-A are on the high end which is actually very reassuring to me as well. Many women in your situation will simply opt for a 'targeted' ultrasound at 18-20 weeks. If that is completely 'normal', your risk is reduced at least another 50%! Let us know how things turn out! Best wishes. Dr T

   

• At Mon Oct 06, 07:39:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  Alan: All I can say is that one of the wisest teachings in obstetrics is that "history tends to repeat itself" even if we are not smart enough to figure out why. If your wife had a big placenta before and eveything turned out fine, then there is a good chance she is simply doing that again and that accounts for the elevated hCG. I ceretainly ould not argue with offering you the amnio, but her past OB history is still very reassuring under these circumstances. Best wishes and let us know how things turn out. Dr T

   

• At Mon Oct 06, 07:40:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  Alan: All I can say is that one of the wisest teachings in obstetrics is that "history tends to repeat itself" even if we are not smart enough to figure out why. If your wife had a big placenta before and eveything turned out fine, then there is a good chance she is simply doing that again and that accounts for the elevated hCG. I ceretainly ould not argue with offering you the amnio, but her past OB history is still very reassuring under these circumstances. Best wishes and let us know how things turn out. Dr T

   

• At Mon Oct 06, 07:45:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Sarah: The 1 in 69 risk is actually just a little better than your age alone risk (1 in 56) in first trimester for having a baby with Down syndrome. I wish you had given me the PAPP-A result, but if it was in the more normal range (which I bet it was), that would improve the prospects that this is just a "placental issue." Larger placentas can make more hCG. Down's babies tend to have a pattern of high hCG and low PAPP-A. So, I will be interested to hear how things turn out. Best wishes! Dr T

   

• At Mon Oct 06, 07:51:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Oct 3: The risk numner is what it is based on the composite of measurements, maternal serum markers and your age. Another way to look at a 1 in 89 risk is to say the baby has a 88/89 chance of NOT having Down syndrome. You will have to decide if you need to find out for sure one way or the other. We cannot make that decision for you. The risk of an amnio is less than one- third the risk that the baby has Down syndrome, but there is still a small risk to the procedure. Best wishes and let us know how things turn out. Dr T

   

• At Tue Oct 07, 03:17:00 AM 2008,  jo said…

  Dear Dr Trofatter
  I am writing to you from Sydney, Australia and have recieved the following results from my NTS today:
  Free beta-hcg 4.0 MoM
  Papp-A 1.08
  Nuchal 2.2mm
  Nasal bone present
  I am 32 years old and beside myself with worry. Even though the risk given to me was 1 in 785, I am very concerned about the hcg figure! I know I can't look at it in isolation, but it is SO high! How can I not!
  Before I feel pregnany (naturally) I had 3 months of back to back Intra-uterine inseminations for 'unknown infertility'. I was on low dose gonal-f for all 3 IUIs and on my final IUI it was discoverd that I had an ovarian cyst, that was 8cm and bleeding into itself! My Dr. said if it didnt resolve itself after a couple of cycles he would have to operate. I took my health into my own hands and visited a dr of natural medicine who put me on all sorts of potions......and low and behold, a month later a scan revealed the cysts was less than 2mm and healing nicely! 2 weeks later I found out I was pregnant with this baby!! (Sorry about the novel, but I do have a point here). My question is, could the presence of that rather large cyst have anything at all to do with my current elevated hcg levels?? I know I might be clutching at straws here - but there has to be some explanation for those levels, right? Could that big ugly cyst be the cause of all my current anxiety and the HUGE hcg figure?
  Also, I know the Papp-A result is good - does that in anyway cancel out the poor hcg figure?
  I have the option of an amnio in 3 weeks - I just don't know what to do, is the hcg number bad enough to warrant to risk associated with the amnio?
  I would be so grateful if you could shed some light on my situation and hopefully allay some of my fears! Thank you so much!

   

• At Tue Oct 07, 03:38:00 PM 2008,  AnaColovic said…

  Dear Dr. Trofatter,
  I am very happy to let you know that we had the "targeted ultrasound" last week (I was 20 weeks pregnant) and everything turned out perfect!
  We have a lovely baby boy!
  We decided not to do amnio- and I believe we feel far more reassured after a long conversation with the doctor. It turns out, the lab doing the screening is brand new, without any background and statistics (honestly speaking screening test just started here in Macedonia, so we don't really know the professionalism of the people and reliability of statistical data they use), and from the doctor's experience, the tests done there did much more harm to pregnant women than good (no possibility to discuss the results with the doctor at the lab- or anywhere, stress due to the bad results, etc).
  Even if my screening was completely correct, I think that we do not need to do the amnio. What are your thoughts on this?
  Best wishes, Ana

   

• At Wed Oct 08, 05:18:00 PM 2008,  Anonymous said…

  Dr.T., I had my first trimester screening results at 12.9 weeks. The genetic counselor informed me my results were screen postive with an NT of 1.75 MoM, hCG of 1.74MoM, and PPAP-A of .57 MoM. I will be 34 years old by my due date. I was told the risk for DS is 1:19. I am blessed with two healthy girls, ages 4 and 2, with no DS Hx or any complications in my previous pregnancies. I have an amnio scheduled on 10/23 at 16 weeks and pray my baby will be just fine. Are these numbers really that high to put me in such a high risk ratio?

   

• At Mon Oct 13, 06:46:00 AM 2008,  Anonymous said…

  Hi Dr. Trofatter,
  
  This is Megan - I originally posted on 8/21/08 [at 12 weeks: NT 1.5 mm
  PAPP-A 0.99 MoM (50th percentile)
  Free Beta HCG 4.89 MoM (99.9th percentile)]. I just wanted to update you on our situation with a bit of good news.
  
  I was able to stick it out until my 19-week ultrasound. All measurements were normal, but the doctor observed echogenic intracardiac foci. Therefore, my risk went from 1:234 to 1:173. My husband and I were obviously concerned by this news and opted for an amnio.
  
  Well, we got the FISH results this morning and all is normal - and we're having a girl! :) We could not be more relieved, as these last few weeks have been more stressful than I could have ever imagined.
  
  I know these results are preliminary because the FISH cannot screen for all chromosomal abnormalities. Can you please just fill me in on how accurate it typically is in detecting Down syndrome? In other words, is there a chance that our "all normal" could turn into an "uh-oh" with the final results?
  
  Once again, your blog has provided me and my husband with SO much hope and comfort over the last few weeks. Thank you again!
  
  Megan

   

• At Thu Oct 16, 09:21:00 AM 2008,  Anonymous said…

  Dear Dr t
  
  My nuchal results are as follows:
  NT- 1.4mm
  Beta HCG- 1.91 mom
  Pappa-a 0.37 mom
  
  Taken at 14 weeks I'm 29 and slim
  
  I was given a 1 in 409 chance of DS
  I feel anxious about these results as everyone I know has had a far lesser chance. Is it the Pappa-a that's causing the risk tobe so high??
  
  Thanks Salina

   

• At Thu Oct 16, 04:28:00 PM 2008,  Anonymous said…

  Hi Dr. Trofatter,
  Thank you so much for your website. I have read a lot that reassures me, but want your opinion while I wait the 2 weeks to get my CVS results.
  
  I'm 34 years old, this is my 2nd pregnancy (first ended in a miscarriage in April at 5 weeks).
  
  I had my NT scan at 11w 4d by LMP (and I had IUI, so I know when I conceived!) the NT was totally normal, less than 1mm, but the tech said the lowest they assign is 1mm. CRL was 49mm which meant 11 w 3 d, so close enough.
  
  We thought all was good, but got a sequental screen blood test 2 days later...and all was not good.
  
  Beta hcg mom was 2.46
  Pappa-a was .26
  
  I was given a 1 in 15 risk. I am crushed.
  
  I had my cvs today transabdominal and it was very difficult and painful. The doctor got an adequate sample, but it was not enough for the next day result test, it has to be grown out in medium...so it will be 2 weeks.
  
  Is the VERY normal NT test a positive sign that I will be the 14 of 15? Or does it matter. The doctor was very suprised to see me back after my really normal ultrasound. Any advice would be great. I know there is still a 1 in 15 chance...but I'm hoping the odds might even be a little better still.
  
  Louise

   

• At Fri Oct 17, 11:17:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Jo: I doubt the cyst has had anything to do with the high hCG. (By the way, are you still taking any of the herbal compounds at this point - would NOT recommend that!). With regard to your study, you have answered your own questions, so listen to yourself. The COMPOSITE result is good. The normal PAPP-A probably is what balances the elevated hCG. One can get elevated hCG from other conditions as we have pointed out in previous posts and responses to comments. The final choice regarding an amnio is yours - if you cannot live without knowing for sure. I would suggest you consider having a 'targeted' ultrasond done at 18-20 weeks before deciding. If that is completely normal, your Down's risk will be reduced by at least another 50%. Best wishes and let us know how things turn out! Dr T

   

• At Fri Oct 17, 12:30:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Megan: The FISH probably has better than 99% chance of ruling out Down syndrome. Best wishes for the rest of the pregnancy! Let us know how things turn out. Dr T

   

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

  To Suumer Oct 6: Sorry, but Healthline just sent me your comment from Oct 6. No, unless it is extraordinarily high and thought to be associated with a 'partial molar' pregnancy, the hCG does not need to be monitored throughout. I am curious as to the actual result of your 'risk assessment' from your first trimester screen. Regardless, I would much rather see a slighly elevated hCG result than a very low one. hCG production is usually directly correlated with the 'placental mass', so you may just have a larger than average placenta and on your way to a larger than average baby, presuming the baby does not have Down syndrome as the cause of the high hCG. Anyway, best wishes for the rest of the pregnancy and let us know how things turn out! Dr T

   

• At Sun Oct 19, 07:57:00 PM 2008,  Anonymous said…

  Hi Dr. T:
  This is Summer (from Oct. 6th)- you responded Oct. 19th. Thank you for your advice and insight. Your blog is so helpful. My first trimester screening results were as follows: Hcg: 99%ile, NT: 1.9,
  papp: 65%ile. My age is 38. I was quoted a risk of 1/212. I had an amnio about 2 weeks ago- still waiting on results. With the amnio, I had mild cramping, but otherwise feel fine. I am starting to feel the baby move, so that is reassuring. I am 18 weeks along. Feeling optimistic but very anxious to get my results.
  Thank you for any additional feedback.
  Summer

   

• At Mon Oct 20, 12:46:00 PM 2008,  FIONA said…

  Dr Trofatter.
  
  Please can you give me a comment on my screening results.
  
  At Gestational Age 13 + 4
  Age: 38 (but donor FET where donor aged 20)
  CRL 77mm
  NT 1.52
  Free Beta HCG 3.3777MoM
  PAPP-A 1.28 MoM
  RISK: 1/192 - calculated on my age not donors
  
  At Gestational Age 16 + 4
  Free Beta HCG 2.34MoM
  AFP 0.81
  rsik: 1/44 - Calculated on my age not donors
  
  
  The hospital say they will only offer an Amnio and no detailed scan to rule out soft markers. I am scared to do this when I think the risk would be much lower if they used my donors age and not mine. I have also heard of high HCG in FETs - have you heard of this research?
  
  Any advice would be gratefully received.
  Thanks
  Fiona

   

• At Wed Oct 22, 08:36:00 AM 2008,  Anonymous said…

  Dr. Trofatter,
  
  I am 32 years old, 130 #, a non-smoker, and just received the first trimester screening results that placed me at an increased risk (1:140)for DS. I had my U/S and blood drawn at 12 wks 1 day, and the results were:
  NT 1.9mm
  PAPP-A MoM: 0.84
  HCG Mom: 1.13
  
  I guess I am wondering was it the decreased PAPP-A or slightly elevated HCG that placed me at such an increased risk? I am waiting for an amnio in 3 weeks, but can you shed some light on this? Thanks!

   

• At Wed Oct 22, 08:46:00 AM 2008,  worried mom said…

  Dr. Trofatter,
  
  I was wondering if you could shed some light on my situation. I am 32 y.o., 130#, non-smoker and am currently 13 weeks 1 day pregnant. I received my first trimester screening results and have been placed in the "increased" risk 1:140 for DS. My lab values were as follows:
  
  NT: 1.9mm
  PAPP-A MoM: 0.84
  HCG MoM: 1.13
  
  I am wondering what it is that is increasing my risk when the numbers do not seem that skewed based upon reading others' values? For being 32 years old this risk assessment seems quite high to me. My OB is thinking along the lines of false positive, but I can't rest knowing that my odds are so much higher for DS than with my previous pregnancy (1:62,000). Can you share your thoughts? (Sorry if this posted twice, I don't think the first went through).

   

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

  Hi Dr. T,
  This is Rose (posted Sept. 22). I got my Amnio results today- and everything was fine. What a relief! Wanted to thank you again for you blog and information. And to wish all the readers who are going through these difficult situations good outcomes.
  Best wishes to all,
  Rose

   

• At Wed Oct 22, 06:33:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  Summer: Thanks for checking back with us. Keep your chin up - I am optimistic too. Please let us know what you find out from the amnio. Best wishes! Dr T

   

• At Thu Oct 23, 05:00:00 PM 2008,  Hope430 said…

  Hi Dr. Trofatter,
  I am 37, and I had the First Trimester screen including the NT scan and bloodwork. The results came back as follows:
  - My NT thickness is 2.6 (M.O.M. 1.66)
  - My PAPP/A is 2.47 (M.O.M. .69)
  - My HcG is 185.9 (M.O.M. 3.05)
  - And my CRL is 75.1 (which measures at 13.4 days, vs. the original estimate of 12 weeks 5 days)
  - Nasal Bone present
  They are giving me a 1:2 chance of Down Syndrome. Do you agree with that ratio? Can there be any other reason why my levels would be like this? It seems that it is the HcG that is the greatest concern to the docs. They are recommending an amnio since I am almost 14 weeks. Thank you.

   

• At Fri Oct 24, 09:30:00 PM 2008,  Joan said…

  Hi Dr. Trofatter,
  
  I'm 34 and at 12.5 weeks I had an NT scan and it showed 1.4. They said my ratio was 1:1600. After we received the blood tests black PAPP-A was .25 mom and free beta Hcg was 6.14 They said my combined risk is now 1 in 9. This was a natural conception conceived aprox 5 weeks after having a cyst removed from my ovary as well as some endometriosis. We had attempted IVF twice before. I miscarried from one of those attempts. I also bled from the 5th to 9th week of this pregnancy. I also had normal then low rising Hcg levels at the start of the pregnancy. Could any of this account the extremely high Hcg level or low PAPP-A score? I'm scheduled for a Amnio next week and am very worried. Does 6.14 sound off the charts for you?

   

• At Mon Oct 27, 01:31:00 PM 2008,  Anonymous said…

  Just to follow up again ... they noted that they do NOT consider the presence (or lack) of a nasal bone into the risk assessment, they find it to be too controversial - but they are saying that the baby does have one. Also, the baby is measuring almost one week bigger than I should be - so they are basing my number on the length which equates to 13.4 weeks (vs. 12.5 weeks) -- could that be skewing my numbers if it is just a big baby. The only other note they mentioned was that the spine looked good at this point. Thanks you. Hope430

   

• At Tue Oct 28, 05:52:00 PM 2008,  Anonymous said…

  Hi Dr. Trofatter. This is Louise. I asked a question on the 16th, not sure if you got it or not.
  
  My FISH results were normal female but they have to run maternal contamination studies. They couldn't tell me how often this happens in CVS. Do you happen to know? I googled it, but can't seem to find anything.
  
  I was feeling pretty good for a while, but they say it will be another week for the results and I am really going crazy.
  
  Thanks for the advice!
  Louise

   

• At Wed Oct 29, 12:58:00 AM 2008,  jo said…

  Hi Dr. Trofatter
  This is Jo from Autralia again. Thanks so much for your response and your reassuring words! You will be happy to know that I am not taking any bizarre herbs - just some folate, iron, fish oil and juice plus.
  You wont believe this, but after I posted my initial comment to you I got a call from the ultrasound clinic to say that the person who drew my bloods wrote down the wrong due date on the request form!! Instead of writing april 17, he wrote april 7! Apparently this 10 days made a HUGE difference to my results, and when they 're-adjusted' the figures based on the accurate dates (that I was 11w5d at the time of blood collection and not 13w1d) it made the world of difference!
  Now my risk for DS is 1:2000-odd as opposed to 1:700-odd!! Apart from the fact that I wanted to scream with anger at the technician, I was also very relieved! However, there is a small part of me that does not trust the final result, as they had to 'doctor' the figures to equate to the right GA of the foetus. How do they do this accurately - aren't they just guessing what your hormones are doing 10 days later?
  I am still having a detailed scan at 19 weeks like you initially suggested, and I specifically asked my OB if they would check for all the DS markers, which they will without request as apparently that is common place in here in Australia.
  My main question to you is after 'doctoring' my results to match my real due date - can I rely on these new figures? Aren't they just guessing what my levels are?
  Many thanks
  Jo

   

• At Mon Nov 03, 12:25:00 AM 2008,  Tony & Lori said…

  Dr. T:
  
  Let me first echo how "helpful" it has been to read your blog and see your positive and reassuring comments to most writers. Yours is truly the only one I've found after deep Internet research discussiong FTS marker levels.
  
  Here are the details on my wife: I am 43, she is 39. Good health, 115lbs. This is our first pregnancy after 2 miscarries at 8 & 10 weeks over the past 2 years.
  
  We had the FTS screening at 11w4d. Results have us very anxious because it appears we are have "extreme" numbers:
  
  NT: 1.8mm
  HCG: 6.43
  PAPP-A: .818
  DS Risk: 1:48
  
  As with many others, the VERY high HCG has us very concerned. We will probably opt for Amnio because we "need to know" but this is several weeks away...? What is the earlier suggested timeframe to perform Amnio?
  
  Also, my wife has been vegetarian for the past 12 months. I do not know her B12 levels but have read this MIGHT have an affect on serum HCG levels? Do you have an opinion on this?
  
  Thanks for any feedback you might provide.

   

• At Wed Nov 05, 09:37:00 AM 2008,  Anonymous said…

  I'm not sure if this thread is still active - but if so, I wante to add a follow up detail to my last post ... and that is two points 1.) they are NOT including the presence of a nasal bone in my risk assessment - do you think that goes in my favor. 2.) They are comparing me to a CRL size equivalent to a baby that would be a week farther along -- when I know for a fact I can't be a week farther along. Could it just be a big baby, and if so - might that have change the numbers they were comparing to.
  
  Scheduled for an amnio on the 14th - and pretty nervous about (especially since I'm told my placenta is in the front) but I don't see a way out of it with this risk assessment. The amnio will be in week 16. They won't do a level 2 ultrasound until week 19. Thank you so much - this blog is very helpful. Hope430.

   

• At Thu Nov 06, 11:34:00 AM 2008,  Anonymous said…

  Dear Dr. Trofatter,
  
  After my first trimester screen done on 10/17 I was given a very high risk (1:5) for downs. I am 39 years old.
  
  
  NT: 4.7 mm
  hCG(MOM) 1.36
  PAPP-A MOM : 0.53
  
  We had a CVS done the following wed. (10/22) and have just received good news that the baby is chromosonally normal 46xx. While we are relieved to hear this, I am still terribly worried about other complications that may be forseen with a NT of 4.7. I know there is a risk of cardiac defects but are there other concerns? I am so nervous, as I have had two previous consecutive miscarriages within the last year. The first one was a spontaneous abortion at 12 weeks (heart stopped beating at 9 weeks) and the second one no heart beat at the 16 week appt. I delivered the baby and had an autopsy done. The demise of the fetus had taken place at least a week prior to the delivery so they were unable to grow chromosones, however they said the baby boy appeared genetically normal, but that the umbilical chord was unsually long and wrapped tightly around his neck 4 times.
  
  Can you give me any help with what we have in store for us with this preganancy?
  
  Thank you very much.

   

• At Thu Nov 13, 09:01:00 PM 2008,  Anonymous said…

  Dr. Trofatter,
  I recently learned that I am in the 99th percentile for free beta hCG and am very concerned.
  
  I am 44 years old and after 3 unsuccessful IVFs with my own eggs, became pregnant with twins using donor eggs from a 21 year old woman. Two blasts were transferred and took. The variables of the previous IVFs, twins, and donor eggs have left me unable to really understand my risk situation. I was given a risk of 1 in 433. It is above the cutoff, however I understand that a 21 year old would normally have a risk of 1 in 1500, and that with twins there is the possibility that a healthy twin is masking the test numbers of a Down's twin.
  
  My test results at 12.5 weeks were:
  free beta hCG: 3.34 (99%)
  PAPP-A: 0.90 (50%)
  Delta NT: -0.4
  
  I had an u/s at almost 18 weeks that showed one soft marker - a CPC in each of the fraternal twins.
  
  Perhaps you should also know that for each of my 4 IVF proceedures over the course of 1.8 years, I took progesterone (injections then suppositories) and used estrogen patches.
  
  I'm leaning toward having an amnio done for my peace of mind. I am wondering about your thoughts concerning the hCG & whether the high number indicates any problems other than would be identified in an amnio.
  
  Thank you so much for this site!!
  Elena

   

• At Tue Nov 18, 09:26:00 AM 2008,  ophelia said…

  My first tri screening results have left me scared and confused. Unfortunately, the nurse did not provide me with the details of my blood work, and i am still waiting for my doctor to discuss my results. I am 30 y/o and will be 30 at term. this is my 1st pregnancy. i had the first trimester screening done at 11w6d...although this dating does not correspond with my lmp as my cycles are long (33 days) and i ovulated late. the NT scan measurement was 1.7mm, the baby had a nasal bone, although the tech advised that she is not certified to measure the nasal bone for screen purposes. HR was 158. there was no abnormality detected during the u/s. my combined results came back at 1:520 for ds and 1:1800 for trisonomy 18. these numbers seem so high for my age. i am not over or underweight for my build - 140 lbs 5 ft7. i do not have diabetes or heart disease. my only health issue is that i have very mild hypothyroidism that is well controlled, although it is of the autoimmune variety. i know that i will not fully understand my screen results until the doctor goes over the blood work with me, but i am wondering whether my thyroid condition could have elevated my risk or would the elevated risk be due to the blood work only? i am so upset. i know my result is "negative" but compared to women who get risks of 1:5000, 1:520 looks pretty high. at this point i feel inclined to pursue amnio. i believe i will be too far along (12w6d) for cvs. any thoughts on my thyroid question or the amnio? thank you.

   

• At Wed Nov 19, 02:55:00 AM 2008,  Anonymous said…

  Hi again. This is Hope 430 from 10/23. I just wanted to update that I went for an amnio last Friday at 16 weeks and they couldn't do one. My placenta is apparently huge and is covering the entire front wall of my uterus so there was no where to go in safely. I go for a level 2 ultra sound in a couple of weeks and if they feels it safe at that point they will do an amnio. The doctor said the level 2 will be able to tell us more but he noted that everything looked really normal in the ultrasound they did with the amnio - he noted that he couldn't see anything abnormal atthis point at all. Would he have if the baby had Down's? I wonder if having a very large placenta could have made my hCG numbers so high? I suppose that wouldn't account for the other two numbers that were off, but the hCG was really high, while the others were off considerable less. And there is still the fact that they are saying I am a week farther along because of the size of the baby - when I know I can't be a full week farther along because I was carefully recording dates on the front end, at absolute best a day or two farther along - so I also wonder if this could be a factor in my numbers. If you have any opinions, I would love to hear them. This blog is the most helpful thing I've found in this area. Thank you. Hope 430.

   

• At Mon Dec 01, 05:26:00 PM 2008,  Anonymous said…

  Hi again,
  Had the level 2 ultrasound today. Everything looked normal. Nothing abnormal with no physical markers for Down's. Everything measures correctly, and the heart looks good. Baby is still measuring a week ahead (when at most it can be a day or two farther along). They said this reduces my chances by 50% - so now instead of 1 in 2, we are 1 in 4 at best. I guess that's reassuring. Not sure about the ultrasound - the doctor is not making me feel like it can be done safely because of my placenta. Thinking we are going to take our chances, don;t want to risk it - but have time to still decide.
  
  Any advice would be great. Thank you. Hope430

   

• At Fri Dec 12, 07:32:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  Fiona Oct 20: I just received your comment this week. Sorry for the delay. My only response is that they SHOULD have used the donor's age to calculate the result. I hope things have turned out fine and best wishes for the rest of the pregnancy. If you do get this note, please let me know how things are going. Dr T

   

• At Fri Dec 12, 07:35:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To worried Mom Oct 22: I just received your comment this week as well. I do NOT understand based on the numbers you gave me why you have an increased risk for Down syndrome. It has been more than 6 weeks since you write, so if you can give me some feedback on the results of your amnio, I would really appreciate it. My bet is that the baby is fine. Best wishes for the rest of the pregnancy. Dr T

   

• At Fri Dec 12, 07:36:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Rose Oct 22: Congratulations and thank you for your feedback. Best wishes for the rest of your pregnancy. Let us know how things turn out! Dr T

   

• At Fri Dec 12, 07:39:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Hope Oct 23: All of the factors including your age, the high hCG, the low PAPP-A, and the widened NT measurement are working to give you that risk for Down syndrome. It has been a long time since you wrote and I apologize, but was just sent your question this week, so please let us know how things turned out if you happen to get my response. Kind regards, Dr T

   

• At Fri Dec 12, 07:43:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Joan: As has happened with so many readers' questions over the past 2-3 months, I JUST got yours this week. That is a very high hCG and very low PAPP-A. I am afraid that does give you a high risk for Down syndrome. With the other complications you have described, I would not have been surprised at all if you had both a low PAPP-A and a low hCG secondary to suboptimal placentation, so that is why I am worried about your screening test results. If you happen to get this response, please let us know how things turned out. Kind regards, Dr T

   

• At Fri Dec 12, 07:45:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Oct 27: I doubt the possible 6 days difference in dating would have skewed the results quite that much. Dr T

   

• At Fri Dec 12, 07:48:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Louise: I JUST got your question today. Healthline has been having some 'blogger' problems. Anyway, since it has been so long, why don't you tell me the results you actually got back! There usually isn't more than a 1% misread rate in most good laboratories secondary to maternal contamination if there was an adequate tissue sample , so I am betting everything is fine! Best wishes for the rest of the pregnancy! Dr T

   

• At Fri Dec 12, 07:51:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Jo: There is minimal "doctoring" of the results. In many laboratories, they actually offer programs of "one-stop" shopping where they draw the blood work a week before, then combine the results with the fetal measurements the next week. You get the 'final result' before you walk out the door of the office that way. I am glad they had a mishap for your sake! Hope the rest of the pregnancy goes well. Let us know how things turn out! Dr T

   

• At Fri Dec 12, 07:54:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Elena: I am JUST NOW getting your comment a month after you left it. Please complain to Healthline for me! Anyway, you may already have an answer if you went through the amnio, but my bet, based on what you told me and the absence of significant abnormalities on the ultrasound, is that BOTH babies are fine. Let me know if I am wrong! Best wishes for the rest of the pregnancy. Dr T

   

• At Fri Dec 12, 07:57:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  Ophelia: I just got your comment this week. I think your test results are VERY reassuring and would not have recommended any invasive diagnostic study at this point - simply a good ultrasound at 18-20 weeks. But, if you did go through with an amnio, you probably have the results back by now, so please let me know if I am wrong! Best wishes for the rest of the pregnancy. Dr T

   

• At Fri Dec 12, 08:01:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Hope Nov 19: A big placenta and a big baby can certainly be accompanied by higher than 'normal; hCG levels. A completely normal ultrasound reduces your risk for Down syndrome by at least 50% (if not 60-80%). Unfortunately, because you have such a high risk, even after the correction for the ultrasound results, you would still be considered 'screen positive' for Down syndrome. It has been another month and I just got all you comments this week, so please let us know how things turned out. Best wishes again! Dr T

   

• At Sat Dec 13, 10:20:00 AM 2008,  Anonymous said…

  Hi Dr. T.,
  Hope430 again. Thanks for your response. We went for the 2nd try on the amnio on 11/15. Again, my placenta being in the front made it a bit too risky and we decided not to reschedule it. We had a level 2 ultrasound that day and they checked everything and couldn't find anything at all abnormal. No markers, no heart or organ abnormalities - no indicators. Only thing is that the baby is measuring 8 days larger than the due date. So, they recuced our risk from 1 in 2, to t 1 in 4. I bet I'm the only one on here who is happy to have a 1 in 4 risk assessment (after having 50%, 25% sounds great to me). The dr. seemed very optimistic but said that improving it by 50% is the best a level 2 ultrasound can do. So it looks like we will have to wait until she is born to know for sure. One person I know told me just yesterday to ask about having a 3D ultrasound - she said that would tell us for sure -- but that was not offered as an option. Do you have any thoughts about that? Does that tell you for sure? Other than that, I will just wait, and try to stop worrying every minute of every day since there's nothing I can do to change the outcome anyway, right. :) Thank you. Hope430.

   

• At Wed Dec 17, 01:09:00 PM 2008,  Anonymous said…

  Hi Dr. Trofatter,
  
  We just got our results from our nuchal screen (we're about 12 weeks - singleton via IVF) and the test showed very high levels of both hCG and PAPP-A (95th and 98th percentiles). We are very worried about placental issues as we lost twins at 23 weeks less than a year ago due to a suspected placental abruption. Is there any cause for concern? A friend has noted that there is a correlation between high levels of these proteins and preeclampsia and in fact lost her baby due sudden preeclampsia after testing revealed high levels of these proteins. Thanks so much for your help - this is a great blog.

   

• At Sun Dec 28, 12:43:00 PM 2008,  Anonymous said…

  Dear Dr. Trofatter~ Update to Kim (last post, your response Sat Aug 16th): I have wonderful news! We have a beautiful healthy little boy, born on 12/15 (at 36 and 4 days of pregnancy). 5 lbs 8 oz, 19inches and the love of our lives. Had stopped Lovenox injections four days prior. Water broke and was 0% effaced and 0 cm dilated. I never developed any hypertension, preeclampsia, etc. Delivered via C-section due to fetal distress after epidural was administered(after 8 hours of pitocin). We received the best early Christmas present ever! Thank you for your expertise/ guidance! ~kim

   

• At Fri Jan 30, 07:28:00 AM 2009,  Karen said…

  Dr. Trofatter,
  
  I am expecting twins and have recieved my first trimester screening NT results and would be very grateful if you can shed some light on them for me.
  Scan & Blood Work completed: 13 weeks and 5 days.
  
  Weight: 75.4KG (164pounds)
  
  Ultrasound Biometry: CRL =80mm, 72.4mm : NT 1.4mm, 1.9mm
  
  Marker Levels:
  AFP: 2.5 MoM
  uE3: 1.40 MoM
  free-beta hCG: 6.18 MoM
  PAPP-A: 7.23 MoM
  NT: 1.00, 1.36 Mom
  
  Risk Interpretation:
  Down's Result: Screen Negative
  Down's Risk: 1 in 1300, 1 in 380
  Edwards's Result: Screen Negative
  Edwards's Risk: 1 in 500000, 1 in 23000
  
  Overall Risk: Intermediate Result
  
  They screener offered another blood test that was completed at 15 weeks. I am led to understand that The second sample measures for the three intial markers measured in the first sample, as their profile changes with gestation, and an additonal marker (inhibin-A). The final risk is estimated from nine marker levels: five from the first test report, plus the three repeat levels and the additional marker.
  
  I am waiting for the result of the second blood test to come back, but in the meantime could you give me some guidance on the first result and what can I expect from a second blood result. Possibilies etc. Based on the inital test result would it be recommend to have an amino ?
  
  I look forward to hearing from you.
  
  Many Thank and Love the blogg.
  
  From Karen in England

   

• At Wed Feb 04, 09:58:00 PM 2009,  Toshiya said…

  Dear Dr. Trofatter-
  I am 39yrs old, pregnant with twin boys, and I am very concerned about my first and second trimester test results and I am debating whether to have the double amnio. Could you please give me your impressions?
  
  FIRST TRIMESTER SCREENING:
  12.7 weeks
  NT:1.6mm
  NT:1.5mm
  weight: 135lbs
  Nuchal translucency:1.00MoM/0.94
  PAPP-A: 0.72MoM
  hcG: 1.55MoM
  DS: 1:38
  nasal bone present in both fetus
  
  AFP BLOOD TEST: NORMAL
  
  18 WEEK ULTRASOUND:
  1 soft marker (Hyperechoic focus) found in heart of one fetus only. No other markers found.
  DS 1:18
  
  
  My doctor said my elevated HCG levels increased my risk for DS but now that the EIF was found, should I be worried? Is this a terrrible combination? Thanks for your time, I appreciate your feedback.

   

• At Fri Feb 06, 08:02:00 PM 2009,  Anonymous said…

  Dr. Trofatter,
  
  My wife had her first trimester screen at 13 w 5 days. The NT was 1.9 mm with nasal bone present. She is 38 years old and will be 39 at delivery. We were told at the appt. for the ultrasound that our risk of DS was 1:125 based on age alone. We then got the results of the bloodwork this week which was PPAP-A of .55 MoM and HCG of 1.97. They then increased our risk to 1:90. They said that was strictly because of the HCG as they said the PPAP-A was normal. Is that HCG really all that high as most others I have seen as high are at least greater than 2.0 MoM? It should also be mentioned that they said she had a total placenta previa at the time of the ultrasound but that that would most likely reverse itself as the pregnancy progressed. Could that have caused the HCG to be higher? Should those numbers be particularly alarming? We really do not want to do an amnio. We are scheduled to go for the quad screen this week but by the time we get the results back, she will almost be 18 weeks. Is that too late if we decide to do an amnio, or should we just go with the level II ultrasound at 20 weeks which we are scheduled for anyway.
  
  Thanks,
  Jeff

   

• At Fri Feb 13, 03:09:00 PM 2009,  Jenna said…

  Hi Dr. Trofatter,
  
  I have been given a risk of 1:160 for having a baby with Down Syndrome. I had the NT ultrasound paired with bloodwork at 12-weeks, and bloodwork at 15-weeks. I am 36-years old, and the risk for my age is supposed to be 1:240. At my 12-week, 0 day ultrasound, I was measuring 12-weeks, 0 days.
  
  I had vaginal bleeding from 5.5 to 8.5 weeks of pregnancy, but an ultrasound at 7-weeks showed no blood in my womb...or anywhere that could be seen.
  
  I had a level II ultrasound at about 18- 19 weeks at one of the best hospitals in Toronto. The ultrasound showed no soft- or hard-markers, but they do not reduce risk...only increase risk if markers are shown. Nonetheless, I did not opt for an amnio.
  
  I was told that I am "measuring ahead" a few weeks, but my nurse said this is common of women having multiple pregnancies. This will be my 4th child.
  
  NT measurement = 1.9 mm
  AFP = 0.95 MoM
  uE3 = 0.84 MoM
  hCG = 2.08 MoM
  PAPP-A = 0.73 MoM
  
  Given all the information, how likely is it that our baby will have Down Syndrome? What risk would you give me seeing that I had a great level II ultrasound? Do you think that the vaginal bleeding was contributing to the high risks? Or do you think that the bleeding was a consequence of chromosomal abnormalities that my body was trying to miscarry?
  
  Your opinion would be very welcome!
  Jenna

   

• At Fri Feb 13, 03:24:00 PM 2009,  Jenna said…

  Hi Dr. Trofatter,
  
  I have been given a risk of 1:160 for having a baby with Down Syndrome. I had the NT ultrasound paired with bloodwork at 12-weeks, and bloodwork at 15-weeks. I am 36-years old, and the risk for my age is supposed to be 1:240. At my 12-week, 0 day ultrasound, I was measuring 12-weeks, 0 days.
  
  I had vaginal bleeding from 5.5 to 8.5 weeks of pregnancy, but an ultrasound at 7-weeks showed no blood in my womb...or anywhere that could be seen.
  
  I had a level II ultrasound at about 18- 19 weeks at one of the best hospitals in Toronto. The ultrasound showed no soft- or hard-markers, but they do not reduce risk...only increase risk if markers are shown. Nonetheless, I did not opt for an amnio.
  
  I was told that I am "measuring ahead" a few weeks, but my nurse said this is common of women having multiple pregnancies. This will be my 4th child.
  
  NT measurement = 1.9 mm
  AFP = 0.95 MoM
  uE3 = 0.84 MoM
  hCG = 2.08 MoM
  PAPP-A = 0.73 MoM
  
  Given all the information, how likely is it that our baby will have Down Syndrome? What risk would you give me seeing that I had a great level II ultrasound? Do you think that the vaginal bleeding was contributing to the high risks? Or do you think that the bleeding was a consequence of chromosomal abnormalities that my body was trying to miscarry?
  
  Your opinion would be very much appreciated!
  Jenna

   

• At Sat Feb 14, 07:35:00 PM 2009,  Noelle said…

  Dr. Trofatter,
  
  I notice that most of the postings here are about NT results but I have a question about amnio results. My nuchal was 1.8 and risk of DS was low but, since I'm 36, I opted to have the amnio anyway at 16W2D. FISH results were normal but final report showed a slight abnormality in chromosome 22 that may be a "non-harmful variant". They're running more tests and took blood from me and my husband to determine if one of us the same chromosome issue. We'll get results in 10 days. OB told us not to worry about it, that it's probably nothing. I'm just wondering, though, what kind of non-harmful variant could there be? How common is this? I just was under the impression that any chromosome abnormality would be a serious problem. If you could possibly shed some light on this for me it would really help me get through the waiting period. I'm trying to stay positive. Right now, I'm 17W3D.
  
  Noelle

   

• At Mon Feb 23, 12:16:00 PM 2009,  Anonymous said…

  Dear Dr. Trofatter,
  I am not sure if you are still responding to this thread since the last post was in December, but I thought I would at least give it a shot.
  
  I am a 32 year old female. 5'7" and 114 pounds. This is my 4th pregnancy. All previous 3 pregnancies were normal, to term and healthy.
  
  I recently received the results of my first trimester combined test and I was quite surprised at the results. At the u/s, the tech noted that the NT looked great. The highest reading she got was less than 2 mm. So, a week later when I received the combined risk assessment I was floored.
  
  My combined risk came back at 1/37 for DS... negative for Trisomy 18.
  
  My readings were as follows:
  PAPP-A 2.0 mIU/ml
  PAPP-A MOM 1.68
  HCG 779.5 mcg/L
  HCG MOM 4.04
  NT 1.93 mm
  NT MOM 2.22
  
  Looking at my results, it seems to me that everything is well within the normal range, with the exception of the HCG which is extremely high. However, I also had a higher level of PAPP-A (do you concur?) so that seems reassuring to me.
  
  Also- I am confused by the NT MOM that was given at 2.22. If my reading was 1.93, is that really a 2.22 MOM? What exactly is the average NT measurement- is it supposed to be closer to 1 MM?
  
  Last, gestational age was reported as 11 weeks 4 days. I am 100% certain that I could not have been more than 11 weeks 1 day at most. Though this is only a differentiation of 3 or 4 days, I also know that HCG tends to peak and then level. Perhaps- since I am actually 3 days behind reported gestational age, that could have slightly increased the HCG MOM.
  
  I am hopeful that this high risk is being driven only by HCG level and hoping that can be explained 1) deviation in actual due date vs. calculated due date on risk assessment 2) by my very slight weight and 3) the fact that this is my 4th pregnancy (note: my history- Gravida4, Prima3)
  
  I am seeing a genetic counselor- but any insight you can provide would be hugely appreciated. Your post and follow up comments have been immensely helpful- as I have read through them all (several times over).
  
  Thanks!
  Kind Regards, Angela

   

• At Sun Mar 01, 11:29:00 AM 2009,  Anonymous said…

  Dear Dr. Trofatter,
  
  What a great blog with very good information. My situation is a bit of an anomaly. I had firtst trimester screening with a result that came back screen negative. They then accidentally did a quad test in the second trimester which came back screen positive. The results of the two tests were NOT combined, and are very different.
  
  I am currently 18 weeks pregnant. I am 33.5 yrs, slender. I have had some spotting sporadically throughout my preg.
  
  Here are my numbers:
  
  First Trimester Screen at 12w 6d
  
  Adjusted Risk for Downs: 1:8151
  NT: 2.0mm
  CRL: 69.0
  free Beta hcg: 1.678 MoM
  PAPP A: 1.805 Mom
  
  Quad Test done at 16w 4 d
  
  Adjusted risk for down's: 1:55
  
  AFP 0.83 MoM
  uE3 0.88 MoM
  HCG 2.35 MoM
  DIA 2.25 MoM
  
  We also had an ultrasound at 18 weeks that came back with no soft markers, however they were not able to assess the nasal bone as baby was face down.
  
  I am 18w 2 d and need to make some quick decisions about whether to do amnio or not. given my numbers any idea what my combined risk would be and whether I should proceed with amnio.
  
  Thanks for your time.
  Ren

   

• At Thu Mar 05, 08:55:00 AM 2009,  Anonymous said…

  Dear Dr. Trofatter,
  
  This is such an amazing thing you are doing for everyone on this site.
  
  I have been for a nuchal translucency test and my risk came back as a 1:1046, however I'm really confused by my results as the technician told me I had extrodinarily high free beta hcg levels but i also had high papp-A.
  They also measured the fetus as 13 + 5 days when I absolutely know for sure, due to the fact i saw my partner once that month, that it should be more around 12 + 5 or younger.
  
  My results are:
  
  Fetal heart rate 157bpm
  CRL : 77.0mm
  NT : 2.0mm
  Amniotic fluid: normal
  
  Nasal bone normal
  tricuspid doppler: normal
  ductus venosus doppler: normal
  
  fetal anatomy appears normal
  
  my bloods
  
  Free beta hcg: 6.468 MoM
  PAPP-A: 1.337 MoM
  
  My Weight: 66.kg, non smoker, spontaneous conception
  
  Why do you think that the free beta came in as that high, i've had morning sickness and nausea constantly but not so bad that i cannot eat each day.
  
  Many Thanks, Alex

   

• At Thu Mar 05, 08:56:00 AM 2009,  Anonymous said…

  Oh i forgot to tell you I'm 30 years old.
  
  THank, Alex

   

• At Wed Mar 11, 04:41:00 PM 2009,  Anonymous said…

  Dr. T.
  
  I am 39 years old at time of delivery I will be 40. Can you tell me if my numbers are driven by age? And what would be considered a normal reading for PAPP-a and Free Beta.
  test done at 12.5 weeks
  age at edd:40
  ga by crl: 13w0d
  maternal weight:185
  crl: 69.5mm
  nt: 1.8mm
  free beta mom:1.35
  papp-a mom:0.63
  my risk for down syndrome was 1:281when based on maternal age alone it was 1:92. For trisomy 18/13 risk 1 in 3421 when based on maternal age alone is 1 in 172
  Are these numbers in the normal range? Help very confused.
  Michele G

   

• At Tue Mar 24, 06:38:00 AM 2009,  Anonymous said…

  Dr. Trofatter,
  
  12 weeks 5 days had genetic testing
  
  papp-a 1.05mom
  hcg(beta) 2.41 mom
  1.13 nuchal
  nasal bone present
  I am 34 years of age and they gave me a risk 1:240. I am very concerned. Is my papp-a normal? Is my hcg too high? Please give information about my blood levels.Thank you, lori.

   

• At Fri Mar 27, 01:52:00 PM 2009,  becky said…

  Dear Trofatter - I just received my combined test results and wondered of you could reassure me. I was given a 1:580 risk of DS so I know I shouldn't worry too much but my serum results were as follows:
  
  Nuchal Measurement - 0.93 MoM (1.4mm)
  Free Beta HCG - 4.54 MoM
  PAPP-A - 0.95 MoM
  
  As you can see my HCG levels are very high. My husband weighed 10lb 4oz at birth could my very high HCG just mean my baby will be large? Or should I be very worried and follow my high levels up with a specialist?
  
  Your advice would be much appreciated
  Becky

   

• At Wed Apr 08, 01:25:00 PM 2009,  troy said…

  Hi Dr. Trofatter,
  
  My concern is for second trimester testin.. my wife...36 has been given a risk factor of 1:140..after some research i know that is not really bad, but would love your opinion. the results are as follows (forgive me for wrong acronymns as i am copying from a scribble):
  ASP-29.9 mg
  uer(VER)-3.77 nan
  HCG-21K
  Inhidina 262.89 g
  
  our ultra sounds have not shown any soft markers and we plan on keeping even if the baby is down syndrome. thanks for your time
  
  concerned dad

   

• At Wed Apr 15, 04:58:00 PM 2009,  Anonymous said…

  This is Hope 430 - it has been several months since my post but I told myself I would post my outcome to help others. My initial post was at 11 weeks when we were given a 1 in 2 chance of the baby having Down Syndrome due to our 1st Trimester screen results which had a hcg level 3x where it should be as well as a wide nuchal measurement and a low papp/a. At 18 weeks they were unable to do an amnio because my placenta was so large and was covering the entire front wall of the uterus making it too dangerous. At 20 weeks we had a normal level 2 ultrasound and passed on further attempts to do the amnio at that point. Things again got scary at 33 weeks when I was diagnosed with severe polyhydramnios. Because I tested negative for gestational diabetes there were fears that the baby was not swallowing due to a birth defect, the leading scary scenarios were both Down's related abnormalities (esophageal fistula or a duodenal atresia - referred to as a double bubble). An ultrasound did not reveal any such abnormalities, but a second U.S. showed a possible enlarged bladder and kidney. They also found two "possible" soft markers for Down's (an apparent short pinky finger, and flattened nasal bone). We were referred to a high risk group and hospital that could handle any situation she might have. They recommended checking her lung maturity at 37 weeks and if she was ready taking her early to avoid putting her under any stress at birth. So on April 9th I had the amnio to check the lungs (and the amnio put me into instanr labor) -- but the lungs WERE ready so we were fine. A few hours later we had our baby girl. She was fully evaluated at birth for everything and showed no signs of any problems, and no physical signs of Down's at all -- she was given a 9 out of 10 on her scores, with the only issue being that she was so hard to get out that they had to vacuum her out. Because of all of shaky tests - they sampled her cord blood and sent it for chromosome and genetic testing. Results came back yesterday -- she is perfectly healthy with no chromosome abnormalities or any health issues of any kind. Although my pregnancy was scary I have no regrets about the tests or the doctors advice because I know that had there been something wrong, the docs were as prepared as possible to handle it. But I want to give hope to someone else out there who may be experiencing a similar situation -- to know that there is still a chance that everything can turn out fine. The ruling on what caused everything with me is that it was all idiopathic -- which means ... "who knows." Dr. T - thanks for your responses and advice -- this was the only site I found that dealt with these issues the way you did. Thank you. Hope430 (which turned out to be Blessings409)

   

• At Fri May 29, 01:23:00 PM 2009,  Priority Home Inspections, said…

  Hi Dr. Trofatter,
  
  I have been reading your posts now and I just got a call from my High Risk Dr yesterday... I am 35 years, baby number three- he told me my percentage was 1/127 for DS- he said it was based on the first tri screen of course- and other things- i am assuming age- weight- NT, which was 1.5 at 13weeks and 6 days- nasal bone was 1.8 i think-He didn't seem to worried- just told me I could do an amnio because i came back with a positive? He did say highly unlikely- offered an amnio, also said or just wait for the ultrasound next week and he will do some searching for "markers" to put my mind at ease- that sounds good right? Jeezz- this is stressful- unlike my other two easy ones :) I am so nervous about this ultrasound coming up i can't stand it- My reg OB said if the Periontologist thought I should have the amnio for certain- he would've have said it- they don't hold back- and it was good he sounded at ease- just informative- still,,,how does this sound to you? 1% out of 127%- I wonder where the other 143% went and why? I know the cut off is 270 right?
  
  Thanks a million!!!
  Amy

   

• At Fri May 29, 03:05:00 PM 2009,  Priority Home Inspections, said…

  Hi Again,
  
  My name is Amy- I e-mailed earlier today- I am just sitting here reading these posts and I cannot for the life of me realize why I am 1-127 for downs- so upsetting- or is it not? too much info on the internet maybe. Anyways when you get a chance I posted about an hour ago with my questions
  If i forgot to put- i am 35, third child
  nt-1.5
  nasal bone present
  heart- fine
  no idea of bldwork- just got 1/127 from doctor- jeezz!! do any rx's make hcg levels higher?
  
  - thanks Amy :)

   

• At Wed Jul 22, 06:22:00 PM 2009,  Anonymous said…

  Dr.T
  
  I'm 32 and my results of the first trimester screening received a nagative with a risk of 1:210 for Down's. My nuchal was 3.2, there was a nasal bone present.I have had my second trimester screening done and my ratio is now 1:160.I'am now at 17 weeks and was told that they have seen a shadow on the heart.I had an amnio done and am still waiting for the results. Is a shadow on the heart another marker for downs? I'm scared to death that the amnio is going to be bad news.

   

• At Thu Sep 03, 06:46:00 AM 2009,  Anonymous said…

  Hi Dr.
  I read all the posts and no one seems to have the same results. It's my first pregnancy and I'm worried.
  My PAPP-A mom is 0.59
  my HCG mom is 0.53
  my NT mom is 0.80
  CRL 5.3 cm
  The screening was done at week 12 and I'm 29 years old.
  Thank you for your help
  Aline

   

• At Sun Sep 20, 10:44:00 AM 2009,  dia_ari said…

  Hello Dr Trofatter,
  
  I just got my combined screen results done at 11 and half weeks
  
  NT: 2.1
  HCG: 1.55
  PAPP-A: 0.4
  
  I was told I have 1/35 risk of having down syndrome baby. Is this number correct? I am really worried
  
  Thank you so much for your time. Really appreciate it!

   

• At Tue Sep 29, 04:58:00 PM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Aline Sep 3: What was the risk assessment result you were given? One cannot tell for sure just looking at the individual numbers.
  Dr T

   

• At Tue Sep 29, 05:00:00 PM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To dia_ari sep 20: The result is highly likely given that combination of findings. But, remember, that does NOT mean the baby has Down syndrome. Let us know what you find out and best wishes!
  Dr T

   

• At Thu Oct 08, 02:41:00 AM 2009,  Anonymous said…

  Hi Dr
  
  I just need a little help – I have all my results but no one has explained to me what they mean. I don’t think I am high risk as I presume they would have called me in. But I don’t understand the numbers. My NT (I think) is good but I don’t think my hCG is that good has that put me higher risk? I am worried my hCG is high – would you be able to give me a risk based on these numbers, or shed some light for me.
  
  I am an identical twin – this is a single pregnancy though. And I am 31 – 1st pregnancy.
  
  12 weeks 0+days results
  
  CRL – 55.8
  NT – 1.1mm
  Amniotic fluid – Normal
  Cord - 3 vessels
  Nasal bone – present (normal)
  
  What is considered high and low
  Free-hCG 1.787MoM (is this high?)
  PAPP-A – 0.708MoM (is this low?)
  
  Really appreciate you sheding some light for me – my midwife isn’t really helping me with the numbers?
  
  Thank you so much
  
  Fran

   

• At Thu Oct 08, 02:56:00 AM 2009,  Anonymous said…

  Hello again its F again
  I have a result of 1:2009 for risk of DS - but i still dont know what it all means based on what i think is high hCG - i was expecting better results purely because the NT was so low of 1.1 - has the hCG really affected it that much!?
  
  Thank you again

   

• At Fri Oct 09, 10:08:00 AM 2009,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Fran: It all means that you have simply that, a risk of 1 in 2009 for having a baby with Down syndrome. That is very low. Do not try to get interpretations on the individual test results. The power of the test is in the COMBINATION of findings not any one test result unless it is way off the scale. Best wishes and RELAX!!!!!
  Dr T

   

• At Sat Oct 24, 07:43:00 AM 2009,  Iceberry said…

  Dear Dr. Trofatter,
  
  I had the first trimester screening at 11 weeks + 1 day, which gives me 1/603 risk for Trisomy 21; 1/37000 for 13/18.
  free b-HCG: 5.01 MoM
  PAPP-A: 1.3 MoM
  Nasal bone: absent
  Nuchal Translucency: 1.3mm
  
  Then I had another scan at 15 weeks +1 day, when nasal bone is present (4.6mm); but Nuchal fold is 6.1mm.
  
  At 18 weeks + 5 days, Nuchal fold becomes 5mm.
  
  My question is whether my extremely high level of HCG rings a bell that it would be better to have an amnio test, together with other factors?
  
  Greatly appreciate your help!
  Iceberry

   

• At Sat Oct 24, 08:48:00 AM 2009,  Iceberry said…

  Hi Dr Trofatter,
  
  It's Iceberry again, just to add that I am 30 years old now; and I had 6 times bleeding (brownie) at around 7-8 weeks.
  
  Look forward to your reply!

   

• At Tue Oct 27, 09:08:00 AM 2009,  JB said…

  Dear Dr. T,
  I am 32 yr old, 170 lbs, 2nd pregnancy and just received my screening results. NF 3.3, Papp-A 1.45, Fbeta 43.24. (those are the only numbers i received from dr.) This was done at 13;3 weeks. Please help clarify what these numbers mean. My risk for down's is 1/52. Also i was diagnosed with Hoshimoto's and am currently on low dose synthroid for hypothyroisim. Could that be causing any problems?? I am now at 15 weeks and not sure if i should have an amnio done. Thank you!!! JB

   

• At Tue Oct 27, 07:07:00 PM 2009,  Anonymous said…

  Dear Dr. Trofatter,
  
  Thanks very much for your blog and the time and consideration you put into responses. It's been a very helpful resource. I recently received the results of my first trimester screen--the NT scan was great but the blood work worrisome. Ultimately a 1:23 chance of Down Syndrome was returned.
  
  The NT measurement was 1.5 MM
  HCG (combined) 2.83 MoM
  PAPP-A .96 MoM
  Inhibin A 3.4 MoM
  Age: 38
  
  The scan was done at 13 weeks 3 days with the baby measuring 5 days larger.
  
  Most of the other numbers I've seen haven't included Inhibin and I was wondering how worried I should be by such a high Inhibin number. Are there any other reasons that Inhibin would be so high? I was also wondering how much have the test done so late in the range could impact the accuracy?
  
  I've schedule an amnio for the end of next week, and am trying hard not to dissect the numbers individually, but it's very difficult.
  
  Thank you very much for your insight.
  
  Julie

   

• At Wed Oct 28, 11:13:00 AM 2009,  jalines said…

  Dr. Trofatter,
  I am a healthy 33 year old, non smoker. I was told I have a 1/27 risk of DS. My results are (GA 12w0d):
  NT 3.2mm
  NB P
  CRL 55.7mm
  Free Beta%90
  Free Beta MOM 2.12
  PAPP-A% 70
  PAPP-A MOM 1.45
  I am going to have genetic counselling in 2 weeks and if I agree will have the amniocentesis after. I am anxious about the results and what is abnormal about my screening (what is high/low). I am torn in having the amnio b/c of the miscarriage rate. I do have a hx of having a preterm baby at 28weeks(healthy and normal).
  
  Any advice would be greatly appreciaated
  
  Jill

   

• At Thu Oct 29, 10:33:00 AM 2009,  Anonymous said…

  Dear Dr. Trofatter,
  I am so happy to find this blog! I am 41 years old and pregnant again after 4 miscarriages, via IUI. My combined screening gave me an odds of 1:19 for DS and I am nervous. Nuchal translucency was 2.4 at 13 wks, hCG 2.1 MoM, PappA 1.1 MoM. Nasal bone present, prelim scan of heart looked good. So it seems (aside from my age) the main determinant of my high odds is the high hCG. I would greatly appreciate your insight on the high hCG--will likely do an amnio to know for sure. Many thanks, Julie S.

   

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