Low PAPP-A in Presence of Low Risk for Fetal Aneuploidy
Thursday, May 01, 2008
Kenneth F. Trofatter, Jr., MD, PhD
• At Mon Apr 28, 02:45:00 AM 2008, Anonymous said…
Hi Dr T,
I am having trouble getting anyone to take my numbers seriously. The NT scan showed up a low PAPP-A result and the sonographer told me to ask my GP to watch this and to make sure my OB consultant knew about it. My GP wrote to the OB consultant and she has just told me this morning that "Don't worry - they are not concerned as the PAPP-A result is low which is good!" Even I know that this does not make sense. Can you please help me by giving your opinion as most info I have read on this amazing site seems to point towards a possible problem:
CRL:57.9mm
NT: 1.6mm
Placenta:posterior high
Free B-hcg: 0.956 MoM
PAPP-A: 0.269 MoM
Egg was IVF donor egg -maternal age 21 yrs.
I was 11weeks and 6 days when the scan was done.
I look forward to hearing from you.
Many thanks,
Jackie
• At Wed Apr 30, 05:05:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…
To Jackie Apr 28: I wish I knew how old you are, what sort of medical problems you have, what was the cause of your infertility, and have you ever had any pregnancies (successful or not)? Barring that, it would be helpful to know what the calculated risk assessment result was for Down syndrome and trisomies 18/13 based on your test results.
Regardless, the low PAPP-A may not be good, but it may not be bad either! If you have read the posts I have written on this subject, and some of the comments from our readers and my responses, you will better appreciate why I seem to be talking out of both sides of my mouth. The reassuring components of your screen are the normal NT (nuchal translucency) and hCG measurements. With a "21 year old egg", I doubt your calculated risk for aneuploidy was very high. You are probably at modest risk for a small baby and the things that might go along with that, such as preterm labor, early delivery, preeclampsia, and cesarean section, but there might be other factors you have not told me about (or are not aware of) that might also put you at risk for these. My bet right now is that you will do fairly well with the pregnancy and nothing is wrong with your baby! Let us know how things turn out.
Dr T
• At Thu May 01, 03:16:00 AM 2008, Anonymous said…
Hi again Dr T,
I am so grateful for your reply and apologies for omitting some of the info. I am 44 years old with no medical problems except a fibroid which has appeared with this pregnancy. The infertility was unexplained, save for mild endometriosis. I had one pregnancy last year (natural) which ended after just 6 weeks with no explanation. I have had 2 previous rounds of IVF - the first produced 4 follicles and 2 embryos were implanted but did not take. The second produced no follicles.
The adjusted risk for Downs was 1:1804 and for Trisomy 18+13 was 1:18628. I was advised that no amniocentesis or CVS (chorionic villus sampling) would be necessary. My main concern is the IUGR/stillbirth scenario which seems to go hand in hand with a low PAPP-A result. Do you imagine that my doctors would keep a closer eye on me - in your opinion what should I be pushing for at my 20 week scan? Will the AFP result throw anything in to the mix as I am yet to receive that?
Thank you again.
Jackie
• At Thu May 01, 10:49:00 AM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…
Hello again Jackie. When the PAPP-A is low, the women at greatest risk for complications are those that also have a placenta that is smaller than normal and/or did not have normal growth into the lining of the uterus (specifically into the uterine spiral arterioles). The MSAFP (maternal serum alphafetoprotein test at 16 weeks can sometimes provide an insight to that as a possibility. If the AFP is abnormally high, and there are no apparent abnormalities (such as a neural tube or abdominal wall defect) of the baby to be seen, then that "false positive" result may actually reflect an underlying placental problem (that may not manifest itself as a problem such as fetal growth restriction or maternal preeclampsia until later in the pregnancy).
The other procedure we use that can also anticipate risks down the line is Doppler flow velocimetry. This is an ultrasound technique that can help us to detect degrees of 'resistance' to blood flow. If you and/or the baby are found to have trouble pushing blood through the placenta by virtue of increased resistance in the uterine or umbilical arteries, respectively, this can be another reason to keep a closer eye on the baby's growth, development and overall well-being. None of these will accurately predict outcome, but if they are abnormal, can justify more intensive antepartum fetal surveillance so that chances of delivering a healthy baby, regardless of the gestational age, are improved. So, do not panic at this point! Again, thanks for your questions and let us know how things turn out!
Dr T
COMMENT:
As we have pointed out before, first trimester screening for aneuploidy can have some benefits for detecting potential complications of pregnancy other than certain chromosomal abnormalities. Our reader reports that her ‘composite’ first trimester screening result was reassuring with regard to risk for a chromosomally abnormal baby, but one of the maternal serum markers, PAPP-A (pregnancy-associated plasma protein-A), was “low” at 0.269 MoM (multiples of the median).
PAPP-A is produced by the placental trophoblasts, especially, by the extravillous cytotrophoblasts (Handschuh, et al., Placenta 2006;27 suppl A:S127-34). It is a ‘protease’ for insulin-like growth factor (IGF) binding proteins 4 and 5 (Boldt and Conover. Growth Horm IGF Res. 207;17:10-18). It has the ability to help release IGF from these binding proteins so that it is free to interact with its cell receptor (Laursen, et al., Mol Endocrinol 2007;21:1246-57). IGF is thought to play an important role in trophoblast invasion and hence the early development and vascularization of the placenta and the placental bed. These early events in formation of the placenta are critical to pregnancy outcome and, when abnormal, are associated with miscarriage, intrauterine growth restriction (IUGR) of the baby, pregnancy-induced hypertensive disorders, fetal death in utero, premature delivery, and even cesarean section for indications of fetal or maternal compromise. It has been postulated that low levels of PAPP-A, resulting in less release of IGF, could be a pathway by which placentation abnormalities occur that culminate in these poor pregnancy outcomes.
Several studies confirm the association of ‘pregnancy complications’ with low levels of PAPP-A. In the First and Second Trimester Evaluation of Risk (FASTER) trial, it was found that women with PAPP-A at or below the 5th percentile “were significantly more likely to experience fetal loss at less than or equal to 24 weeks, low birth weight, preeclampsia, gestational hypertension, preterm birth (P < .001) and stillbirth, preterm premature rupture of membranes, and placental abruption (P < .02)” (Dugoff, et al., Am J Obstet Gynecol 2004; 191:1446-61). Spencer and colleagues (Ultrasound Obstet Gynecol 2006;28:637-43) evaluated first trimester markers in 54,722 chromosomally normal singleton pregnancies. They found that the odds for fetal loss at anytime in pregnancy was about three-fold that of ‘normals when the PAPP-A levels were at or below the 5th percentile (0.415 MoM).
Labels: aneuploidy screening in first trimester, Doppler flow velocimetry, PAPP-A
51 Comments:
At Wed Jun 25, 01:47:00 AM 2008,
Anonymous said…
dear sir,
My wife has a test for 14th week
fB-hCG : 0,93 MoM
PAPP-A: 0,31 MoM
NT: 1,5 mm
CRL: 75 mm 0,81 MoM
Age: 40,2
Is the Down syndrome risk high?
Tank you very much in advance
kadir
ktufan33@gmail.com
istanbul/ turkey
At Thu Jun 26, 06:55:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To anonymous June 25: I suspect the risk will be high because of your wife's age and the low PAPP-A, but what was the number they actually gave you? Dr T
At Fri Jun 27, 09:04:00 PM 2008,
Anonymous said…
First, THANK YOU for your informative site! Even if you don't respond to my comment I've learned SO much from reading here.
I'm actually writing on behalf of my best friend (34 years old)
Her OB office did a NT scan that came back very high (5.9). Her OB's office is VERY VERY new to doing these scans. My friend had a baby with this practice last year and was referred to MFM for the test, now they are doing it on their own and the sonographer was "just certified".
With an NT that high I don't know why they didn't just go straight to CVS (she was 12 weeks on the day of the NT) but they wanted to do the b/w and they referred her to MFM for a SECOND NT scan. She won't even have this appointment until 8 days after the original NT scan. You can just imagine her anxiety level!
Anyway, her b/w came back today. She didn't get the PAPP-A number but was told that it was "low". Her fB-hCG was .22 The baby has measured right on target (was one day behind at last u/s)
They gave her a risk assesment of 1:13 for T21 or T18.
From what I've read wouldn't she have a higher HCG with T21 or 18? Don't both numbers being low indicate a potential implantation problem?
Thank you for your thoughts on this and for your extremely informative site!
Laura
At Fri Jun 27, 09:07:00 PM 2008,
Anonymous said…
Wanted to add to my previous comment, the "just certified" tech didn't bother to check for a nasal bone. My friend was assured they would do so at her next NT (grrrrr).
Thanks!
Laura
At Fri Jul 04, 08:07:00 AM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Laura: Generally (but not always), Down syndrome is often accompanied by a normal to elevated hCG and a comparatively low PAPP-A and trisomy 18 by both values being low for the gestational age. If the tech is new at doing the NT measurements, she could have easily made a mistake, but I would not hang my hat on that (it will be a pleasantly good surprise if true). The doctor's office may also NOT have the capacity of doing the CVS which ordinarily is recommended even before the blood work returns when the NT is that wide. I will be interested to hear how this saga turns out, so please get back to us when you know something defnitive. Best of luck to your friend! Dr T
At Fri Jul 04, 11:26:00 AM 2008,
Anonymous said…
Dr. T:
Thank you for your reply. Unfortunately, my friend's story has not turned out well. She went in for a repeat nuchal and they got a measurement of 4.5. They scheduled her for CVS the next day. When she went in for the CVS the doctor noticed that the baby had an extremely large omphacele. He said it was the biggest he'd ever seen. The defect was so large that the doctor was concerned that the heart was also outside of the body. He suspected Pentalogy of Cantrell.
Given this information, he advised that the CVS wasn't really necessary and she had to terminate the pregnancy.
Thanks again for your advice. You really have a great site and it was very helpful.
Laura
At Sat Jul 12, 08:04:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
Laura: Thanks for the update and I am sorry for your friend. Dr T
At Thu Aug 14, 06:47:00 PM 2008,
kiku69 said…
Hi Dr T- I could really use your help. I am 39 years old and had mfm do b/w and us at 12 wk 2 days, results were normal nt, ds was 1 in 15 and tri 18 was 1 in 50,she also said i had low papp-a (numbers not known but i can get them) which was a factor in these numbers. they recommended me to come back at 15 weeks and repeat us and b/w. I have a 20month daughter who is perfectly healthy (God Bless) but who had a high risk of ds at 1 in 126, no risk of tri 18, i was 37. i have had no placenta problems in the past or that i know of now. i have been possibly dx with chronic lyme ds which i take 2000-3000 mg of pcn as a preventative throughout the pregnancy (which i also did with my daughter). I did lose a baby at 6+ wks last july. What do you think of this? should we be worried? do you think i should do an amnio? I did one with my daughter and cryed through it and all night long. Thank you so much, we are very grateful for any insight you may be able to offer. kiku69
At Sat Aug 16, 07:47:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To kiku69: Unfortunately, those are very high risks for a chromosomal abnormality. We would recommend the amnio, but the final decision rests with you. Best wishes and please let us know how things turn out. Dr T
At Mon Sep 08, 11:01:00 AM 2008,
Anonymous said…
Hi Dr. Trofatter,
I could really use your help. Can you please comment on my prenatal screening results at approx 12 weeks.
-32 years old
-several miscarraiges
PPAP A: .49
HCG: 1.31
NT: 1
I am very anxious that there is something wrong due to the low PPAP A result and considereing Amnio.
Your advice would be greatly appreciated.
Jill
At Tue Sep 23, 08:30:00 AM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Jill: I cannot comment unless you give me the actual risk assessment results you received as a consequence of those numbers! Let me know. Thanks for reading! Dr T
At Tue Oct 28, 01:57:00 PM 2008,
Anonymous said…
Hi Dr. T.
I'm now 15 weeks pregnant.
I will be 39 years old at the end of this year. Non-smoker, generally healthy.
1st trimester screen results:
PAPP-A --> 0.53 MoM (20th percentile)
free beta HCG--> 2.15 MoM (90th percentile)
NT--> 1.3
Down's syndrome risk--> 1:63
1st ultrasound: normal
Level 2 ultrasound scheduled at 18 weeks (yet to happen).
* What's your take on my lab values?
* How reliable is the level 2 ultrasound in detecting a down's syndrome baby?
* Is it possible to have a normal level 2 ultrasound but abnormal amniocentesis results (i.e. positive for down's syndrome)?
* If the level 2 ultrasound is normal, would you recommend having an amniocentesis?
* What course of action would you recommend? Should I have an amniocentesis?
Thank you for your time and effort in addressing questions on this website. I appreciate it.
At Wed Oct 29, 07:10:00 PM 2008,
Anonymous said…
Hi Dr T,
Could you please give me your thoughts on my first trimester screening. This is a frozen embryo pregnancy resulting from an ICSI procedure. I am 35 y/o and very confused..
fB-hCG : 1/4 Mom
PAPP-A: 0.39 Mom
NT: 1.4 mm
CRL: 64.9 cm
My risk was calculated to be 1/207 and after the screen was altered to 1/94
Please help, thank you.
At Mon Nov 10, 11:05:00 AM 2008,
Anonymous said…
I had my first trimester screen and my results were
hGC = .31
PAAP-A = .36
Detla NT = -.52
Nasal Bone present
My risk for Trisomy 18/13 were 1/300
age 34
this is my second pregnancy. 1st was normal - have a healthy 4.5 year old boy.
The dr. who gave me my results said that although my results were "low" I would not need to have an amnio. but when the results were sent to my OBGYN's office - she asked that I have a CVS performed. After 2 tries the doctor was unable to get the tissue she needed and recommended I wait and have an Amnio. she also said i should be hopeful because the ultrasound findings were normal.
I'm worried about having all of these tests performed since they do carry a risk of miscarriage.
i'm conflicted because the dr where i had first received my results didn't feel additonal testing was needed by my obgyn does. would love your feedback about my results.
thank you
waverly, new jersey
At Fri Nov 14, 01:01:00 PM 2008,
kate said…
Dear Dr.T,
I have been following your site and articles ever since my NT and your information, insight and attentive responses to your readers have been exemplary. Thank you SO much for writing and responding to all of us!
I am 36 years old with my first and currently 16w3d. No history of smoking or drinking. At my NT everything looked good:
my downs ratio was 1:800 and trisomy 1:7000. I did not need to do amnio.
--However my Papp-A was .44MOM (10th percentile).
--I also have "suspected" Celiac disease which I will be retested for later.
I have been concerned with this low Papp-A and when I asked my ob she was not very helpful. So in reading you articles I have gained insight but have further questions:
--the report said my .44MOM was at 10th percentile...yet I saw many other readers with .4 etc. and were considered 5th percentile (which is a percentile cited as of concern)...am I marginally at 10th percentile and is there a big difference? Should I be concerned?
--Is there correlation with celiac disease and placental health or low papp-a scores? I have read reports of celiac causing many of same risk factors associated with low Papp-A.
--the other day, I felt a gush of fluid and went to the OB where she tested me for amniotic fluid. She only did a Nitrazine and "thought" all was fine. I revisited Papp-A levels and their correlation with PPROM...do you have any insight or advice on this? As a first time mom, I don't even know what a gush of amniotic at 16 weeks might feel like. But moreoever...I am concerned with papp-a, celiac and pprom.
Many thanks Dr. T!
At Sat Nov 15, 07:29:00 AM 2008,
Elisachristine said…
Dr. T~
I want everyone who has low papp-a levels to ask their doctors about Interuterine Growth Restrictions & SIDS risk reducers!
I posted several questions to you back in the spring b/c I had a very low Papp-a. After the CVS, however, my baby was "fine" and SHE didn't have a genetic abnormality. It wasn't until third trimester that the doctors discovered a growth problem. She was small for her gestational age because my placenta was small. Her heart beat & everything else was perfect. I was monitored for 10 days (because the birth plan was to induce her at 37 weeks--which is term). On Sept. 15th I had a beautiful baby girl, named Valentia. My husband and I were more happy than we could have imagined. We were finally in the clear with our beautiful daughter! She was only 4lbs, but we were told she was healthy. She only stayed in the hospital one extra day. She was thriving. She gained 1 lb and 5 ounces in the first month. Then, 38 days later, I put her to sleep and she didn't wake up. I've been living a nightmare since. The cause of her death is still pending, but all the experts think it was SIDS. This is hard to wrap my brain around b/c she's not in the high risk category (she's a white, female). Plus, she was sleeping on her back with a pacifier and ceiling fan on for ventilation & NO soft covers, etc.!!! And I'm NOT a smoker. When I did more research I discovered that babies with growth restrictions/placenta problems (i.e., the low papp-a) are at a 2x greate risk FOR SIDS! Nobody warned me about this?! Is this because the risk is so low? Are you familiar with the 2x greater risk of SIDS for babies who have Interuterine Growth Restriction problems (i.e., Low Papp-a). Shouldn't the low papp-a have been a red flag to ALL the doctors (OB & the Maternal Fetal Medicine specialists). Maybe I could have taken a baby asprin to thin my blook & then my placenta would have grown properly? Please let me know your thoughts on this?
Yours truly,
Elisa
At Sat Nov 15, 07:30:00 AM 2008,
Elisa said…
Dr. T~
I want everyone who has low papp-a levels to ask their doctors about Interuterine Growth Restrictions & SIDS risk reducers!
I posted several questions to you back in the spring b/c I had a very low Papp-a. After the CVS, however, my baby was "fine" and SHE didn't have a genetic abnormality. It wasn't until third trimester that the doctors discovered a growth problem. She was small for her gestational age because my placenta was small. Her heart beat & everything else was perfect. I was monitored for 10 days (because the birth plan was to induce her at 37 weeks--which is term). On Sept. 15th I had a beautiful baby girl, named Valentia. My husband and I were more happy than we could have imagined. We were finally in the clear with our beautiful daughter! She was only 4lbs, but we were told she was healthy. She only stayed in the hospital one extra day. She was thriving. She gained 1 lb and 5 ounces in the first month. Then, 38 days later, I put her to sleep and she didn't wake up. I've been living a nightmare since. The cause of her death is still pending, but all the experts think it was SIDS. This is hard to wrap my brain around b/c she's not in the high risk category (she's a white, female). Plus, she was sleeping on her back with a pacifier and ceiling fan on for ventilation & NO soft covers, etc.!!! And I'm NOT a smoker. When I did more research I discovered that babies with growth restrictions/placenta problems (i.e., the low papp-a) are at a 2x greate risk FOR SIDS! Nobody warned me about this?! Is this because the risk is so low? Are you familiar with the 2x greater risk of SIDS for babies who have Interuterine Growth Restriction problems (i.e., Low Papp-a). Shouldn't the low papp-a have been a red flag to ALL the doctors (OB & the Maternal Fetal Medicine specialists). Maybe I could have taken a baby asprin to thin my blook & then my placenta would have grown properly? Please let me know your thoughts on this?
Yours truly,
Elisa
At Mon Nov 17, 02:18:00 PM 2008,
Anonymous said…
Hi Dr. Trofatter,
Thank you for your responses to the many questions on this site. I've found them very helpful. I'm 35 and I just had my NT scan last week. The scan came back within the normal range and the presence of a nasal bone was noted. Unfortunately, my blood work was troubling (PAPP-A of .13), leading to a 1/65 chance of Trisomy 21. My hospital does not consider the presence of a nasal bone in cases where they determine an elevated risk, i.e., my case. Is it fair for me to believe that this would reduce the chances of Trisomy 21? How often does a nasal bone appear in cases where the baby is ultimately diagnosed with Downs Syndrome? Also, where my PAPP-A is so low - much lower than I've seen referenced on this site - how much does level impact my chances of a successful pregnancy?
At Fri Nov 21, 01:10:00 AM 2008,
Lorraine said…
Dear Dr.
Please could you explain my blood results to me as I am very worried and confused.
Age 38.
Conceived IVF/ICSI
NT 2.2
Free B-hcg: 0.755 MoM
PAPP-A : 0.293 MoM
I have a risk of 1 in 77 of Downs Syndrome and 1 in 208 for Trisomy 18 & 13.
Thanking you
Lorraine
At Tue Nov 25, 02:48:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To anonymous Nov 10: Sorry for my delayed response, but as I have pointed out to our readers, we are having 'blogger problems' and I just received your comment today. Your risk for trisomies 18 and 13 is being driven by the relatively low PAPP-A and hCG results. But, that risk is still only 1 in 300. The question is NOT what your doctors think about that, it is what YOU think about that. Another way to look at it is that you have a 299 in 300 chance that the baby does not have trisomies 18/13. Many patients in your situation would not opt for the CVS because of its risks of 0.5 to 1%. Indeed, because babies with trisomies 18 and 13 usually have multiple major abnormalities and 'growth restriction' that can be detected by a good ultrasound, many women in your risk category will wait to have a 'targeted' scan done at 18-20 weeks and then make a decision regarding an amniocentesis based on findings at that time. Anyone, I don't know if this is much help at this point, but if you get this and would like to report back to us, it would be appreciated. Best of luck for he rest of your pregnancy! Dr T
At Wed Nov 26, 03:58:00 AM 2008,
Anonymous said…
Dear Doctor
i would be very grateful for your help opinion of my NT results as we have been given elevated risk of Trisomy 18.
i am 35 and this is my 2nd pregnancy. i am 12+3 weeks, i have a healthy 3 year old son and had gestational diabetes in that pregnancy
My results were
fB hCG: 0.3656 MoM
PAPP-A: 0.2570 MOM
NT: 2.3
CRL: 61.6
The scan itself was fine and no abnormalities were detected, the skull/brain appeared normal, abdomen normal, stomach visible, bladder visible, hands and feet both visible. i was given a risk of 1:5024 for DS after this. But they gave me a risk of Trisomy 18 at 1:153 based on the blood results.
We have decided to wait and have the tests at 16 weeks when we are told the results will be much more obvious and the odds will go up or down dramatically, we will then have amnio if the odds go higher.
i wonder is it the low PAPP-A score that is elevating the risk, and is this a clear indicator that the baby will have Trisomy 18.
Thanks in advance for taking the time to read this.
Stephanie Rickwood
stephanierickwood@hotmail.com
At Thu Nov 27, 10:24:00 AM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Kate: I am using your comment and questions as the basis for a couple of complete posts. See my post from November 16, 2008 as a start in answering your questions. The next post will address the issues of celiac disease to the best of my ability. Thanks for the great questions and best wishes to you! Dr T
At Thu Nov 27, 10:33:00 AM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Elisa: I am SO sorry for the loss of your baby. IUGR babies are at greater risk for many different complications, including SIDS following delivery. This can simply be the result of their size and metabolic status, or it could be the result of a genetic abnormality (inborn error of metabolism) or another cause that led to them being small in utero to begin with. In view of your history of the low PAPP-A, IUGR, and subsequent loss of your baby following delivery, rather than just "starting a baby aspirin" in anticipation of another pregnancy, I would recommend that you see a specialist in maternal-fetal medicine for preconceptional counseling, evaluation for possible thrombophilia (acquired or genetic) and any other problems that might be identified from family and medical history, and to review any findings that come about from the evaluation of the baby you lost that might have an impact on another baby and pregnancy. Again, I am sorry for your loss and if you do find out any reasons for what happened, please let us know. Kind regards, Dr T
At Thu Nov 27, 10:41:00 AM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To anonymous Nov 17: If you had the other values of your screening test, it might be helpful in answering your questions. Regardless, the presence of the nasal bone (if it was really there) reduces your risk for Down syndrome by as much as 50%, but in your case, you would still be "screen positive." As I have pointed out on other occasions, even if you baby does not have Down syndrome or another chromosomal abnormality, very low PAPP-A levels (such as yours) are associated with an increased risk for abnormalities of placentation that can ultimately result in a growth-restricted baby, hypertensive disorders of pregnancy, preterm delivery, stillbirth and need for cesarean delivery. So, the growth and 'health of the placenta' should be followed carefully for the rest of your pregnancy by whatever methods your doctors have available to them (e.g., ultrasound, Doppler flow studies, fetal heart rate testing, etc.). Best wishes to you and please let us know how things turn out. Dr T
At Thu Nov 27, 10:48:00 AM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Lorraine: At your age, the first trimester risk for Down syndrome is about 1 in 100 and for all chromosomal abnormalities, about 1 in 51. The PAPP-A is very low, but the hCG is also on the lower end of the 'normal' range as well. If the hCG was higher, you would be at even greater risk for a baby with Down syndrome (and a lower risk for trisomies 18 and 13). I am betting right now that your baby is chromosomally normal, but may have a placenta that is destined to be small (something over which you have absolutely no control at this point), possibly as the result of chance or whatever has caused your 'infertility' problems to begin with. You may be at increased risk for the same pregnancy complications I have detailed in my response to the reader just above this one. I wish you the best and please let us know how things turn out along the way.
Dr T
At Thu Nov 27, 04:21:00 PM 2008,
Lorraine said…
Dear Dr, Thank you so much for explaining my blood results to me, I was told that my bloods were abnormal but wasn't told why. The information you have given me is a great help. The reason for the infertility is due to my husband.
I was advised to have an Aminocentesis which I'm having on Monday (1.12) and should receive my FISH results 48-76 hours later. I will let you know the outcome when I receive them.
Thanking you again
Lorraine
At Wed Dec 03, 07:35:00 AM 2008,
Anonymous said…
Hi Dr T
I wonder if you can help me stop obsessing about my NT and bloods results. The date by CRL was 12 weeks and 6 days, compared to 14 weeks and 1 day by period. They used the CRL measurements.
NT 1.2 mm 0.75 mom
free hcg 0.29 mom
Papp-A 0.23 mom
They gave me a downs syndrome risk of 1:13,000 (I'm 35 non-smoker), but I've now realised that I wasn't given a risk of Edwards syndrome. The nurse from the hospital rang and said that because of the low PAPP-A levels, they are having me back at 22 weeks for a growth scan with a consultant. She never mentioned that the HCG was also low.
Should I ring back and ask about the risk of Edwards or would they have mentioned it if there was a risk? Also, is having low levels of both hormones linked to more placental problems than low PAPP-A levels alone?
Many thanks
At Sun Dec 14, 05:40:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To anonymous Oct 28: Well, unfortunately I have just received your comment in this week's mail, so I guess I can't be much help. But, let me answer some of your questions and maybe someone else will benefit from the responses. Your age alone risk for Down syndrome in first trimester is about 1 in 75. My trake on the lab values is thatt he combination of your age and the difference between the modestly elevated hCG and modestly low PAPP-A gave you the slightly increased risk (over age alone) for Down syndrome. The reliability of a level 2 ultrasound depends on the skill and experience of the people performing the exam. Most well-trained sonographers will be able to reduce your risk for Down syndrome by 60-80% if no major abnormalities or 'soft markers' for aneuploidy are found. So, yes you can have a "normal" ultrasound at 18-20 weeks and still end up with a baby with Down syndrome. Even if the level 2 ultrasound is completely normal, your risk will still be no better than 1 in 200 which would still be considered 'screen positive'. The risk is no higher than that so the choice for amniocentesis rests in your lap, ie., how do YOU feel about the risks your baby has Down syndrome compared to the risks of amniocentesis - how badly do YOU want to know? Anyway, since it has been awhile since you wrote, I hope things have turned out well, regardless of which choice you made. If you do ever get this response, please let us know. Best wishes for the rest of the pregnancy. Dr T
* What course of action would you recommend? Should I have an amniocentesis?
At Sun Dec 14, 05:43:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To anonymous Oct 29: Sorry, but i have just gotten your comment this week as well. You did not give me an interpretable result for the hCG, but I am presuming it was modestly elevated and that combined with your age and the low PAPP-A drove up your risk for Down syndrome. If you get this note, please let us know how things turned out. Regards, Dr T
At Fri Jan 02, 09:47:00 PM 2009,
Anonymous said…
I am 37 years old and recently had my first trimester screen. My NT was listed as 1.8 and my overall DS risk was given at 1:3220 and my risk for trisomy18/13 was 1:3660. I was not given the two blood serum values. I have two questions. Is it normal for both risk ratios to be so close and even? I noticed that most of the other posts had a much lower risk for either DS or trisomies. Mine were almost identical. Also, the perinatologist explained to me that no nasal bone does not change my risk factor because the blood serum levels were so good. I was under the impression that the absence of the nasal bone would affect my risk. I am contemplating amnio next week. Your insight would be appreciated.
Rebecca
At Thu Jan 08, 06:09:00 PM 2009,
Anonymous said…
Dear Drs.
I am 34 years old (will be 2 months shy of 35 when I give birth), and am 13 weeks and 2 days pregnant. I had an ectopic pregnancy last September, and this year became pregnant via IVF. I do have a history of endometriosis, but neither my husband or I know of any genetic disorders in the family.
I just had my NT ultrasound today (and that combined with a previous bloodwork) gave me the following results: NT at 2.9mm, HCG(MOM) at 0.36, PAPP-A at 0.66, which puts me at 1:166 for trisomy 18/13. The specialist told me that I technically passed the test, but my numbers at 1:166 is significantly lower than my age group whose range is 1:617. Should I be concerned? Would you recommend an amnio? My husband and I are a bit reluctant to do an amnio given the miscarriage risk and how hard it was for us to get pregnant. What would you recommend and What other options do I have? Thank you for your site and support! - G
At Thu Jan 08, 10:01:00 PM 2009,
Jennifer said…
Dear Dr. Trofatter, I feel very lucky to have found this site. I've found a lot of comments and follow-up comforting. I do have a few questions.
Here are my statistics:
Age 34.
NT 1
Free B-hcg: 0.3 MoM
PAPP-A : 0.3 MoM
Nasal Bone present
I have a risk of 1 in 4,800 for Downs Syndrome and 1 in 106 for Trisomy 18 & 13.
Can the test outcome be skewed if the due date is off by one week? I believe my date is 7/23 which one week later than my ultrasound dates of 7/16 and 7/11. I didn't not have a period between my last pregnancy and this one.
Is it possible to get another first trimester screen or would the comparison be inconclusive as hormone levels continue to change and are not as accurate past a certain date?
On the postive side - the ultrasound looked great. Very active baby with what appeared to be good blood flow between us.
I am of course concerned with IUGR and preclampsia, but read a study printed in the New Yorker (http://www.newyorker.com/archive/2006/07/24/060724fa_fact) that stated, "Karumanchi believes that women who have closely spaced pregnancies have a lower risk of developing preeclampsia because the blood vessels in their uteruses don’t have a chance to return to their pre-pregnancy shape. They are able to supply relatively robust amounts of blood to the fetus early in pregnancy, thus minimizing the likelihood of oxygen deprivation and the need for the placenta to produce soluble FLT."
I'm wondering if the same concept would apply to IUGR as well with the "framework" still in place?
We are scheduled for an amnio using FISH on 1/16 to check for 18/13/21 issues. Hopefully it won't be too soon to do this!
I apologize in advance for the barrage of questions.
Best regards,
Jennifer
At Fri Jan 16, 10:26:00 AM 2009,
Anonymous said…
Hi Dr.T,
I'm 34 years old. In my 14th week of pregnancy with my second child. My first child is 6 months old.
Ultrasound at 12wks,6 days
NT: 1.7mm
CRL: 70.2mm
NB: Present
Blood work at 10wks,2days
fB-HCG: 1.658 MoM
PAPP-A: 0.221 Mom
adjusted risk of trisomy 21: 1:28
I had a CVS and am waiting for results (takes 2-3 weeks in Canada)but can't stop thinking 'what if'. Does my risk mean that I have a 96%chance of having a 'normal' baby. Can you tell me...is the HCG high? Could the fact that I got pregnant so quickly after my first have to do with the low PAPP-A? Also, we don't really know when I got pregnant. I had an ultrasound on Dec.5th that dated me at 8 weeks 1 day. However, in my previous pregnancy (I was charting and know exactly when I conceived) I always measured 2 weeks ahead of the date of my last period. So, am wondering, if I got my blood work done at 10 weeks, could the pregnancy only have been 8 weeks along, and if so, would that be reflected in HCG and low PAPP-A? I know I'm grasping at straws here...
Thanks for your thoughts and advice.
Take care,
Jen
At Thu Feb 12, 05:01:00 PM 2009,
Anonymous said…
To provide some hope to those reading this blogs with theor high risk 12 week results- I went for my 12 week scan- combines with bloods (BHCG and PAPPA) - scan was perfect, but bloods were not great (low PAPPA and high BHCG) + I am 39. The calculated risk for Downs was 1:10 - I nearly fell of the chair during counselling.
I had a CVS the same day - and the FISH results (if available pay the $ as 24hr tunraround is great)have came through today - and all clear for the major trisomy chromosomes eg Down Syndromes. The Dr is very positive about the remainder of the karyotype results.
I even know the gender of my baby- and so look forward to holding my son in my arms in August.
Don't give up hope ladies.
At Tue Feb 17, 11:38:00 AM 2009,
Lisa said…
Dear Dr.,
I just had my first trimester NT scan. Results are as follows:
Age - 30
NT - 1.1
Nasal bone detected
hCG - .95
PAPP-A - .21
DS risk - 1/380
18/13 risk - 1/6,644
Obviously, the concerning score in all of this is my PAPP-A, which is only in the .5 percentile, though I did not have IVF, do not smoke, and am only 30 (to the extent that is a factor). I am not overly concerned about DS, given the 1/380 risk. I have decided not to have a CVS due to the risks, but to have the quad blood test and, based on that, determine if amnio is appropriate. Please let me know of this appears to be an acceptable approach.
My larger concern is what the low PAPP-A might mean in terms of low birth weight, stillbirth, and other problems I have read about. What, if anything, should I now be doing to address these risks? I don't really understand what PAPP-A is, but would like to know if there is anything I can do or not do to raise the levels or lower my risk. And what changes should be made to my prenatal care to best deal with this situation?
Many thanks.
Lisa
At Wed Feb 25, 04:00:00 PM 2009,
Anonymous said…
Hello Doctor,
I just had my first trimester ultra-screen and I am really worried if my baby has down syndrome.
bHcg - 0.99
PAPP-A - 0.75
NT - 3.0
my age - 29 yrs
can you please tell me what risk I carry for having down syndrome baby?
Thanks in advance
At Thu Apr 16, 03:03:00 AM 2009,
Cathy said…
Dear Doctor T,
Thanks for your very informative site. I am 39 and concerned about my first trimester screening done at 12 weeks, both fb hCG and PAPP-A are high giving me a risk of 1:50 for DS. NT was a little more reassuring giving me a risk of 1:350 for DS. The scan is showing me to be 1 week further on than my dates (which are correct) but I do have a tendency to have large babies. I am anxious about my result, am I high risk and would it be advisable for me to have amnio. Amnio testing is not routine in Ireland and would not be done as commonly as in other countries but I would still prefer to have it done if there is a risk of abnormalities. I would greatly appreciate your opinion. I have 5 healthy children and no problems with any of the pregnancies. Here are my results:
Age 39
CRL 69.9mm
NT 1.95mm
fb-hCG 6.10 MoM
PAPP-A 2.47 MoM
Final risk DS 1:185
Final risk Trisomy 18/13 1:3632
Many thanks
Cathy
At Thu Apr 16, 03:17:00 AM 2009,
Cathy said…
Dear Dr. T,
Sorry I forgot to mention that the nasal bone was present at the NT scan.
Many thanks
Cathy
At Thu May 14, 04:37:00 AM 2009,
Anonymous said…
Fantastic and most informative site - THANK YOU
Here's my history:
I am 45 (46 next month) and conceived naturally if unexpectedly. I have two children aged 6 and 3 -both problem free pregnancies. However I have been given a 1:8 chance of DS with this pregnancy with my 12w 3day scan. Is this to do with the highish NT or the bad blood tests or both?
CRL 55.3mm
NT 2.1mm
HCG .9867MOM
PAPPA-A: 0.44MOM
My last two babies at this stage were bigger (70mm) with lower NT (1.6mm)
CVS next week - but is the NT high or is it just my bloods and age that are causing concern?
Thank you
At Thu May 14, 06:33:00 AM 2009,
kathryn37 said…
Hi Dr T
Thanks for this information - like so many of the people here I am sitting with strange results. I'm 37, this is my 2nd pregnancy, I was on fertility meds. My first pregnancy was a missed miscarriage at 7 weeks, with Trisomy 13 (mosaic to 30%) being the cause. I am 13 wks and 4 days pregnant. I had a little bleeding at around 6 weeks and then again, quite a lot at 12 weeks, which has been attributed to a low lying placenta. I had my NT scan yesterday - nuchal fold was 2.0, beta HCG 'in normal range' and was told that PAPP-A was very low. I was told that my risk started at 1:139 for Downs and after the tests came down to 1:46. I had a CVS and await results - I live in South Africa and these will take a full week. Obviously my husband and I are fretting. (Not sure what the actual PAPP-A results were - I think 0.28.) My baby's growth is absolutely on track and everything else about him is normal. Is it usual when there is just one marker Down's (ie low PAPP-A) for the risks to increase so greatly, and do you think my low lying placenta might have something to do with it?
Thanks for the great information you give on this site.
Kathryn
At Wed Jul 08, 05:23:00 PM 2009,
Erica said…
Dr. T,
Hello! I am 35 yrs old (will be 36 when I deliver) and am 13 weeks 6 days pregnant. This is my 4th pregnancy. All other 3 were normal pregancies and deliveries. I had the 12 week screening done 2 weeks ago and the sonogram looked great, but my bloodwork came back with a low papp-a level bringing my risk of DS from 1 in 225 to 1 in 8. My risk for Trisomy 18/13 was 1 in 395 before screening and 1 in 295 after screening. Obviously the 1 in 8 number is what is causing my concern. My OB considers it to be in the advanced risk level. I am scheduled for the CVS next week. I was also told that during the sonogram while the tech was checking my heartrate with the doppler that it showed changes that could lead to high blood pressure later in the pregnancy and I am now taking 1 baby aspirin a day to help take care of that. My question is this, is it possible that the low papp-a and the possiblity of high blood pressure later in the pregancy are related to one another? My OB was surprised that my risk for DS went to 1 in 8 with such a good sonogram. Any insight you could provide would be much appreicated. Thank you for your time!
Erica
At Thu Jul 09, 06:16:00 PM 2009,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Erica: One of the nonchromosomal causes of a low PAPP-A is a small and poorly vascularized placenta If this occurs, it can lead to poor fetal growth, unexpected fetal loss, and a far greater risk for hypertensive disorders during pregnancy. I wish I could tell you that an aspirin could prevent that from happening at this point, but I can't. The first order of business is to find out whether or not the baby is chromosomally normal. Best wishes and let us know how things turn out.
Dr T
At Mon Jul 20, 06:37:00 AM 2009,
Erica said…
Dr. T,
Thank you for your reply. I just found out this morning that the initial FISH result is showing that the baby has DS. Needless to say I am heartbroken. What are the chances that this result is incorrect? We will hopefully have the full result by next week. Our genetic counselor says we should wait to hear what the final result is, but as of now it looks like DS. Thanks for your time!
Erica
At Tue Aug 04, 10:06:00 PM 2009,
Joanne Edwards said…
Hello,
Had my 12 week screen today and it freaked me out,not to mention my husband!Would like your opinion please.
fB-hcg 3.068MoM
PAPP-A 0.568MoM
NT 1.2mm
CRL 60.0mm
Trisomy 21 1:654(adjusted risk)
Trisomy 18/13 1:22244(adjusted risk)
Age 30
I hope this is enough information for you.
Thanks
J.E.
At Mon Aug 10, 03:06:00 AM 2009,
liny said…
RESPECTED SIR
i am 22yrs old mother.my NT is 3mm in my 12th week scan.BPD is 22mm.my free beta hCG IS5.09ng/ml and PAAP-A value is 0.96mI/mL.is there is any risk for downs syndrome
At Thu Sep 03, 01:43:00 PM 2009,
Olga said…
Hello Dr. T.
A few weeks ago I had 1st tri screening. My sono was good but my blood work showed VERY low papp-a. Genetics counselor told us that only 5 people out of a 1000 have it that low. We had CVS done and it came back clean. We are really happy about that! The problem is that I am still really worried about other potential complications/issues. I requested a new blood test but was denied. I am still looking for an explanation for such a low papp-a. I wanted to know it there is something like prior blood drawing can cause this. Basically, 2-3 hours prior to the 1st trimester blood test I gave blood for another set of tests. They took 4 vials of blood. I wanted to know if taking blood could affect 1st trimester screening. Could my body/ my blood be affected by prior blood drawing?
Thank you.
-Olga
At Thu Oct 01, 08:47:00 PM 2009,
jane said…
I just had a NT done that gave me a risk of 1:17 for Trisomy 21. I am 34. When the blood tests were done, my date was 12 weeks 1 day. The ultrasound determined my baby to be 13 weeks (performed after blood test on same day). Is it possible that the different dates skewed my blood test results?
NT 2.2 mm
CRL 69.9 mm
fb-hCG 3.675 MoM
PAPP-A 0.461
Age 34
Thanks,
Johanna
At Wed Oct 07, 12:13:00 PM 2009,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Erica July 20: I am so sorry. It is VERY unlikely the chromosome studies are incorrect. Kind regards.
Dr T
At Wed Oct 07, 12:15:00 PM 2009,
Kenneth F. Trofatter, Jr., MD, PhD said…
To liny Aug 10: I would need to have the results of the hCG and PAPP-A expressed as multiples of the median (MoMs) to even guess at your risk for Down syndrome. What was the risk assessment you were given based on your test results?
Dr T
At Wed Oct 07, 12:17:00 PM 2009,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Olga sep 2: It is very unlikely the previous blood draw affected the PAPP-A results. Best wishes and let us know how things turn out.
Dr T
At Wed Oct 07, 12:19:00 PM 2009,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Johanna: It is possible, but unlikely. The risk calculations are based NOT on gestational age but on the crown-rump length (CRL) of the baby. Best wishes and let us know what you find out.
Dr T
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