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

47 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

   

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