Risk of Amniocentesis

Friday, April 27, 2007

Kenneth F. Trofatter, Jr., MD, PhD

Today I saw a 38 year old woman who came for genetic counseling and possible amniocentesis to rule out a fetal chromosomal abnormality. She was right at 16 weeks’ gestation. Her last pregnancy was 18 years ago and the 47 year old father of the current pregnancy had never had any children of his own. She made it very clear at the outset that she was reluctant “to do anything that might make me lose this baby unless I have to or there is a good reason.” I reassured her at the start that no one was going to make her do something she didn’t want to do – the ultimate choice was hers – and that it made absolutely no difference to me what her decision was! My role was to provide her with information, answer her questions, and do the procedure as safely as possible if she chose to have it done.

The first amniocentesis for chromosomal analysis of cultured fetal cells from amniotic fluid was described in a brief article by Steele and Breg in 1966 (Lancet 1966;1:383-5). Ten years earlier, Fuchs and Riis (Nature 1956;177:330) had reported doing the procedure just for fetal sex determination. In both instances, these procedures were done ‘blindly’ inserting a needle without any method of direct visualization into the uterine cavity.

When I started my OB/GYN residency in 1979, our technique was barely better. We sent the pregnant woman to ultrasound (static), a fluid ‘pocket’ was identified, an “X” was placed on her abdomen at the “best place to stick a needle,” she was sent back to our clinic, and we BLINDLY placed an 18 gauge (large bore) needle into the uterus at the site of the “X.” It was not at all unusual to meet some resistance (some part of the baby – never felt real comfortable about that) or draw back blood (from the placenta, umbilical cord, or uterine blood vessels) before finally getting the fluid we needed to do the fetal chromosomal studies.

Despite the relative crudeness of this approach, the chance of losing the baby after this procedure was only about 1 in 200, and that has been the number routinely quoted to women for the “risk” of amniocentesis over the past 30 years, even though we now do these procedures using direct, real-time ultrasound guidance and a thin, usually, 22 gauge needle. Most of us who have done lots of these over the years (I put my numbers somewhere between 5 and 10,000) have known the risk is much lower. In fact, I only know one woman who lost a baby following an amniocentesis I have performed in the past 25 years (KNOCK ON WOOD), and she was probably well on the way to losing that pregnancy due to other complications. Anyway, it has been my routine for awhile to tell most women who come for amniocentesis that the “quoted risk is 1 in 200” but my “undocumented risk is less than 1 in 1000. Besides, I stayed at a Holiday Inn Express last night.”

Finally, as the result of a very large study that included documentation of outcomes following midtrimester amniocentesis, we have data to support the relative ‘safety’ of this procedure. In this study, the FASTER (First And Second Trimester Evaluation of Risk for aneuploidy) trial, the 3,096 women who underwent midtrimester amniocentesis (at many different institutions) were compared to 31,907 who did not (Eddleman, et al., Obstet Gynecol 2006;108:1067-72). The spontaneous fetal loss rate at less than 24 weeks following amniocentesis was 1.0% compared to the background loss rate in the control group of 0.94%. Therefore, the added risk of the amniocentesis was calculated to be only 0.06% (1.0% minus 0.94%) making the risk of the amniocentesis approximately 1 in 1600 – far less than the 1 in 200 (0.5%) risk that is usually quoted.

This information was presented to our patient today, but she was still very anxious about the prospects of the procedure. I told her that we saw no abnormalities of the baby at this time and that alone reduced her “age alone midtrimester risks” of 1 in 100 for Down syndrome (trisomy 21) and 1 in 51 risk for all chromosomal abnormalities by at least 50%. So, I offered her another option. “Why don’t you have a ‘quad screen’ (maternal serum screen) done today as a more reliable estimate of risk than that based on age alone. We will have the results back within 10 days, and you can use that information to further guide your decision regarding amniocentesis.” I then told her, that “because the odds were still in your favor that the baby is chromosomally ‘normal’, I am just going to schedule you for a ‘genetic sonogram’ at 18-19 weeks, and if the ‘quad screen’ results are scary, or if you just change your mind about the amniocentesis, we can see you back sooner and on very short notice.” She seemed happy with that plan…and it was the right decision for her at this time...so, I have a new friend!

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183 Comments:

At Sun May 13, 08:21:00 PM 2007, clacla said…

When i was pregnant with my daughter, i was told there was a 50% chance she would be disabled and posibly brain damaged when she wass born and i wa firstly told i should think very hard about aborting the baby before i got any further with the pregnancy.I also got advied to have an amniocentesis. To be honest though i knew there was nothing wrong with my baby, call it mothers instint or jut a bad call by the doctor involved i knew it was the right deicion for me not to do anything, and i had a healthy baby girl with absolutely nothing wrong.
At Wed May 16, 06:16:00 AM 2007, Kenneth F. Trofatter, Jr., MD, PhD said…

I am glad things turned out okay. I am curious as to why your doctors thought there was such a high chnace that your baby woulsd have a problem?
At Sun Jul 29, 03:10:00 AM 2007, Thea said…

I have sent a reaction before, but probably on the wrong page. What I wrote was in summary: can I come to your university and let an amniocentesis perform by you? I'm a Dutch woman aged 31 years and have had a "positive" result on the triple test of 1:5. I'm afraid of the risk of losing a healthy baby when doing an amniocentesis.
Thanks for responding. My email: teetje11@kpnplanet.nl
At Mon Jul 30, 10:15:00 AM 2007, Kenneth F. Trofatter, Jr., MD, PhD said…

Thea,
If you live in the Netherlands, I recommend you find a doctor there to do the procedure. It is not a difficult procedure and can be done very safely by someone who has plenty of experience anywhere in the world. With a 1 in 5 risk, I recommend you have it done as soon as possible and ask that they send FISH (fluorescent in situ hybridization) which should be able to give a result for the more common chromosomal abnormalities within 72 hours. Thanks for reading and good luck.
Regards,
Dr T
I sent a copy of this to your email address
At Fri Aug 03, 06:03:00 AM 2007, T said…

Dear mister Trofatter. I have another question, hoping you can give me an answer to. My gynaecologist has made an appointment for me in Amsterdam. But now I'm scheduled for an amnio next week, when I'm just 14 weeks and 2 days pregnant. Isn't this too early? I've heard there is an increased risk doing the amnio before 15 weeks, is that correct? Thanks again for your time.
T
At Fri Aug 03, 05:00:00 PM 2007, Kenneth F. Trofatter, Jr., MD, PhD said…

Hi Thea: Years ago I did many at 14-15 weeks and was fortunate never to have had any complications, but there is a greater risk of complications at 14 weeks and I usually do not offer them now until 15-16 weeks. I hope things turn out well for you. Please let me know the outcome. Dr T
At Fri Dec 07, 12:59:00 PM 2007, Andy said…

Dear Dr. Trofatter:

I am 37 and this is my first pregnancy. I had a first trimester screening that came back with very good results according to my doctor (1/1200 for Down's, and 1/5000 for trisomy 18). I have two questions:
1)My husband and I are still evaluating if I should have an amniocentesis performed or if it's not worth the risk. Would you recommend against performing the amniocentesis?
2)My due date according to my last period is June 18th, but when my baby was dated by ultrasound I was told that my real due date is June 22, but they're sticking with June 18 as my due date. Is the due date taken into account when calculating the results of the first trimester screening? If so would this 3 day difference alter the results? (I'm afraid that the same NT measurment might not give the same probabilities for a baby 3days younger).
Thank you for your help!
At Fri Dec 14, 03:25:00 PM 2007, Kenneth F. Trofatter, Jr., MD, PhD said…

To Andy Dec 7: The 3 days should not make a difference. You have VERY reassuring first trimester screening results. We would ordinarily only recommend a MSAFP screen at 16 weeks and a 'targeted ultrasound' at 18-20 weeks under these circumstances. Such good results are the primary reason we have been able to reduce the number of invasive diagnostics studies we do. Inherantly, the risk of amniocentesis is low, but if you lose a baby with an amnio under these circumstances, it will more likely than not be a NORMAL baby. However, YOU are the patient and we NEVER tell you what you should do. The only questions to you are: Do you need/want to know and do you understand the risks to find out? We do not particularly care what you decide because we do not have to live with either the decision or the consequences! We just promise to do the procedure the best we know how. Hope that helps and thank you for reading. Dr T
At Thu Dec 20, 05:11:00 AM 2007, mana said…

hi my names romana i am 30 and 15 weeks pre with my 3rd child , had acll frommidwife advising me that i am high risk accordinging to her notes of baby having downs synrome they are doing the blood test nxt week, can they tell if i am high risk without the tests carried out... i have no rev history or family history or prev pregnancy probs i am quite worried...
At Thu Dec 20, 03:26:00 PM 2007, Kenneth F. Trofatter, Jr., MD, PhD said…

To Romana Dec 20: I am confused. Why does your midwife think you are at "high risk" for having a baby with Down syndrome? Have you asked her? Something does not add up! Why don't you find out and get back to us. Thanks for reading. Dr T
At Thu Dec 27, 07:18:00 PM 2007, Anonymous said…

dear dr. trofatter

im jehn,29yrs.old & im 23 wks.my doctor said that my baby had a bright spot on her heart that findings links to down syndrome.they did sonogram & turned out everything ok no markers of ds.but still i had genetic counselling they ask me if want to do a amiocentesis to confimed the ds.i had a history of misscarriage several years ago.this is my second pregnancy & i dont wanna loose it.please give me some advice
At Sat Jan 05, 12:10:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Jehn Dec 27: I am sorry it has taken so long to respond, but Healthline has had some 'technical difficulties' and I just received your question yesterday. The bright spot in your baby's heart is an echogenic intracardiac focus (EIF). It is SO WEAKLY associated with chromosomal abnormalities that at your age, at your gestational age, and in the absence of more signficant fetal abnormalities, I personally would NOT RECOMMEND the amniocentesis. If you cannot sleep without knowing, then have it done, but understand that if you lose the baby, or need to be delivered prematurely, as a result of the procedure, the overwhelming likelihood is that your baby is NORMAL. Dr T
At Tue Jan 22, 09:25:00 AM 2008, Anonymous said…

Dr. T - I wrote to you a few months ago on your recurrent loss blog regarding my two 2007 1st trimester losses - I followed your advice to see a good RE, we found impaired glucose tolerance, I started metformin, and I am happy to report that I am 15 1/2 weeks pregnant with what seems to be a healthy baby! So, thanks for that.
Here's my new question: I just turned 39. I had a NT done, and my risk for Downs is 1/2000 and my risk for Trisomy 18 is 1/3700 - which is reassuring. I scheduled an amnio anyway, because I am 39, and because of the possibility of the chromosomal problems with my lost pregnancies last year. Now, I am a week away from the amnio, and I am getting paranoid about the risk from the amnio of losing this baby. What I don't quite understand is how a history of previous losses impacts the risk of amnio. Does it make a difference if your previous losses were not spontaneous miscarriages, but missed ones? I was ok with my decision to have an amnio until yesterday, and now I can't get past the thought that something bad might happen. I know that my doctor doesn't care either way if I do the test or not, but I don't want to talk myself out of (or into) something if I am being overly cautious. Thanks in advance.
Liz
At Tue Jan 22, 05:27:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Liz Jan 22: Liz, I am not going to tell you what to do. But, let me put this in perspective. The risk of the amniocentesis in experienced hands is still about twice that of your a priori risk for having a baby with Down syndrome or trisomy 18 (and probably several other chromosomal abnormalities as well). In less experienced hands, the amniocnetsis risk can be 10 times your first trimester screening risk! With those odds, if you did happen to be the 1 in 1000 (or 1 in 200) who lost their baby as the result of the amniocentesis, the overwhelming odds are that you will lose a completely NORMAL baby. You are doing very well, you have been through a lot to get to this point and you are 39 years old. You may not have many more opportunities. One option (rather than juming into the amniocentesis now) to consider is to simply have a genetic sonogram done at 18-20 weeks. If that is normal, your a priori risk (based on the first trimester screening results) is reduced another 50% at least (I generally quote folks 60-80%). If something really suspicious is seen at that point such as poor fetal growth, congenital heart defect, or a major marker for aneuploidy (and I am NOT talking about an echogenic intracardiac focus, or even a choroid plexus cyst alone), you could still opt for the amniocentesis with a FISH (fluorescent in situ hybridization) analysis for the more common types of chromosomal abnormalities. This can give you highly reliable results within 72 hours. Using first trimester screening, coupled with this approach, we have not missed a chromosmal abnormality in more than three years. By the way, CONGRATULATIONS! Again, best wishes to you and please let us know how you do with the pregnancy! Dr T
At Wed Jan 23, 01:44:00 PM 2008, Anonymous said…

Dr. T,

We have recently found out that my 17 year old niece is pregnant and is not sure who the father is. She had her first OB/GYN appointment last week and the doctor first determined that her due date was August 25. After performing a sonogram he upped her due date to August 5. Now her boyfriend would like for her to have an amnio done to determine paternity. I would like to see them wait until birth to have paternity determined. What do you suggest?
At Thu Jan 24, 02:15:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Anonymous Jan 23: At this point the purported father of the baby has absolutely NO say in what your daughter does or does not do during this pregnancy. In many states (and you will have to check with yours), paternity testing is a big deal that requires legal representation on both sides and handling of blood samples from the mother, baby, and possible father in ways that rival a crime lab investigation because of the long-term implications of the results (support, etc.) that can be the end result. I do NOT recommend that she have an amniocentesis done for this reason alone. The testing is most reliably perfomed on blood samples and to sample the baby's blood from the umbilical cord in utero imposes some risk on the pregnancy. Now that your daughter knows how 'far along' she is, there is a very good chance she can be provided an approximate date of conception and will be in a position to tell you now if paternity is an issue. Good luck!
Dr T
At Sun Jan 27, 11:31:00 PM 2008, Cass said…

Hello, Iam 25 years old, and on my 3rd pregnancy.. So far so good until I got the results of my triple quad screen and it was positive for Down's??? Iam scheduled for an Amnio on the 30th but Iam having second thoughts due to all the Miscarriages Iam reading about after the procedure... Just wondering what causes a miscarriage after the amnio and what are my chances of a miscarriage and my chances of having a baby with Down's??? Thanks Cassandra
At Mon Jan 28, 06:20:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Cassandra Jan 27: How high is your risk for Down syndrome based on the screening test? In very experienced hands the risk of an amniocentesis between 16 and 20 weeks is probably less than 1 in 1000. By "risk" we are talking about losing the baby as the result of the procedure as the consequence of rupturing membranes, introducing infection, or damage to the baby or placenta. Each of these complications are fairly uncommon. If your risk for Down syndrome is less than 1 in 100, you might consier simply having a 'genetic sonogram' done at 18-20 weeks (as I suggested to another reader in a recent post) and then deciding on the amniocentesis based on those findings. A normal ultrasound at that point reduces the risk based on your screening results by at least 60-80%. Good luck and let us know how things turn out. Dr T
At Sat Feb 09, 12:56:00 PM 2008, Anonymous said…

Hello Doctor. I am 36, in my 14th week of pregnancy and am scheduled to have an amniocentesis in my 16th week. The decision to have the amnio was due to a miscarriage last summer that, when biopsied after D & E surgery, showed that I am a carrier of a balanced translocation. Do you think that it is a smart decision to have the amnio? Just searching for some objective professional reassurance.
At Wed Feb 13, 09:49:00 AM 2008, Anonymous said…

Dear Dr. Trofatter:

I am 37 and this is my first pregnancy. I had a first trimester screening (including nuchal and hcg/PAPP-A) and the results were 1/1125 for Downs and 1/5000 for Trisomy 18/13. The nuchal (1.3) and hcg (0.97 MOM) number were great but the PAPP-A number was 0.54 MOM, which increased my overall risk. I had the 16 week AFP only screen and the number was 1.29 MOM which indicated 1/5000 (approx) risk for neural tube defects. I recently had a 20 week sonogram and they detected renal pyelestasis, which they told me was a soft marker for downs and doubled my risk. I guess my risk is approx 1/550 now. This was the only marker they saw and the rest of the sonogram was normal. I am nervous about having an amnio because of the risk of losing a healthy baby. I would appreciate your thoughts.
At Thu Feb 14, 08:50:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To anonymous Feb 9: What balanced translocation do you carry? Even though you have gotten this far, thereby reducing your risk that the baby has aneuploidy (too much or too little genetic material), an amniocentesis is probably prudent. Some balanced translocations can result in subtle chromosomal aabnormalities that are often just as devastating to the baby in the long run. Good luck to you and please let us know what you find out! Dr T
At Fri Feb 15, 05:03:00 AM 2008, Anonymous said…

Hi Doctor Trofatter. Thank you for your post. I have a non-Robinsonian balanced translocation between chromosomes 3 and 20. Thanks in advance for any insight. ~Christen (previously Anonymous
At Fri Feb 15, 10:26:00 AM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To anonymous Feb 13: If all they saw was mild pyelectasis, I would not generally recommend an amniocentesis with the a priori risk you have based on the first trimester screen. But it is still your choice in the end. My suggestion would be to relax, odds are your baby is chromosomally normal! Let us know how things turn out. Dr T
At Fri Feb 22, 06:47:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Christen: The odds are in your favor that the baby has either a normal karyotype or is also a balnaced translocation carrier. We would still offer you an amniocentesis to find out for sure, but with aneuploidy for either chromosome 3 or 20, there is a very good chance you would not have carried this far into the pregnancy. That's why I believe your odds are good that this baby is 'normal'. Best wishes and let us know what you do and how things turn out! Dr T
At Sat Feb 23, 07:27:00 AM 2008, Anonymous said…

Hi Dr. Trofatter,

My 1st trimester screening increased my odds from 1:172 to 1:126. I will be 38.9 years old on my due date. My results were 2.5mm NT (1.54 MoM), free beta HCG 1.55 MoM and my PAPP A was .81 MoM. My 20 week scan found only a RT pelvis borderline dilation of 4.5 mm and my risk was increased to 1:85. I am really scared and struggling with what to do. I have a history of 3 spontenous misscariages before 12 weeks. I am currently 21 weeks and my amnio is scheduled for Monday. I have no children. Your thoughts would be much appreciated.
At Thu Feb 28, 04:46:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To anaonymous Feb 23: If the only 'abnormality' your doctors saw was a slightly dilated renal pelvis, the odds are still in your favor that the baby is chromosomally normal. You have to ask yourself how badly you need to know before you deliver. The risk of the amniocentesis is probably only a tenth the risk of your having a baby with Down syndrome, but with the odds you quoted to me, if you did happen to lose the baby, and the loss was related to the amniocentesis, the odds are that you would actually lose a chromosomally normal baby. I also hate to raise this issue, but my other question is related to the fact that you are having an amnio a little late in the pregnancy. Do you have any idea what your plans would be if you actually did find out the baby had Down syndrome. The answers are not easy and you have to make a decsion that is right for you. Please let us know what you decide and how things turn out. Best of luck! Dr T
At Sun Mar 16, 07:46:00 PM 2008, Anonymous said…

Dr. Trofatter..I posted a comment back in February. (Refer to Christen's posts) I was supposed to have the amnio three weeks ago but my husband and I decided against it at the time- ambivilant overall. The ultrasound that day showed everything to be normal- everything that an ultrasound can pick up anyway (structure/organs). We now have another ultrasound/amnio (<-possibly) scheduled this Tuesday the 18th, which will be week 19. I go back and forth about it- don't want to be the 0.5% that has that miscarriage due to the amnio... but just wanted to know from you- is there any greater benefit to waiting the extra three weeks? i.e. more amniotic fluid. I really want to get it- I just want to have assurance that it's the right choice. Thanks again, Christen
At Wed Mar 19, 11:23:00 AM 2008, Anonymous said…

Hi Dr. Trofatter,
I’m 38 and 18 weeks along. This is my 3d child. (I had my last one 8 years ago.) I’ve also had two miscarriages. I don’t know what my risks are – I didn’t even know there was a first trimester screening. My doctor just asked if I was considering amnio, then he referred me to a specialist. I see the amnio guy in a couple of days. I did ask to have an AFP at my last doctor’s visit (about a week ago). The doctor told me that the office doesn’t call with results unless there’s bad news, and I haven’t heard anything, so I guess it’s either good news or the results aren’t in yet. I’m someone who would consider terminating the pregnancy if a problem arose, but I don’t want to lose a baby just because I made the selfish decision to check its chromosomes. Can I ask the amnio doctor for a genetic sonogram, or is that a different doctor? And should I feel pretty confident if those results come back normal? I’m worrying myself sick about this. Chromosomal problems don’t run on either side of the family, but I’m also the oldest one to have a baby…
Any advice would be greatly appreciated. Thanks in advance.
At Thu Mar 20, 07:21:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Christen Mar 16: Sorry, I did not see your note until today. An amnio is easier in later pregnancy (usually) because there is more fluid. In experienced hands, the risk of an amnio shuld be much less than 0.5%. Incidentally, a targeted ultrasound at 18-20 weeks, if all is 'normal', should also reduce your age alone risk by at least 60-80%, essentially to less than that of a 35 year old woman. Your negative family history has very little impact on your age alone risk for aneuploidy. Please let us know what you decided and how things turn out. Best wishes. Dr T
At Fri Mar 21, 05:33:00 PM 2008, Anonymous said…

Hi Doctor Trofatter. It's Christen. I ended up not getting the amnio on Tuesday. I received results from the targeted ultrasound that were deemed "normal" and with the doc's exceptional knowledge of spurting statitics at me, we felt very good about opting out of the amnio. We know that it doesn't rule everything out but couldn't justify taking the risk, be it minute. For some reason, we were thinking the amnio might be able to tell us more about MR (mental retardation)- it's a fear of mine- and the doc said that it wouldn't be able to tell us anything so it solidified our decision to pass on the procedure. Thanks for your post even thought it was after the fact. My post was last minute anyway. Again- thank you for your words. ~Christen
At Wed Mar 26, 06:21:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

Christen: Thanks for the kind words. I think you have made the right decision for you and that is SO important. Stay in touch, okay!?! Dr T
At Sat Apr 12, 07:15:00 AM 2008, Anonymous said…

I am thinking of getting an amnio on either monday or tuesday (4/14 or 4/15) if they can get me in but I am so scared. I am afraid to miscarry like everyone else but especially because I had some first trimeater bleeding..not much just a couple days in week 5(too late for implantation bleeding so who knows what caused that) My quad screen came back negative but I am 40 years old. I would terminate for down syndrome however I am afraid to lose a healthy baby at this point. Is the amnio safe at 20 weeks or 21 weeks and is it worth doing at this point. I am so afraid that the dates might not have been accurate on the quad screen. I know my dates for sure and I was 15 1/2 weeks when it was done but the baby measured 16 weeks and 4 days and my doctor has my due dated at 9/3. Shouldn't my due date from LMP of 11/25 be 9/1 or 8/31(leap year). Would any of this make a difference on the quad screen results leading me to believe that everything looked ok when maybe it does not??? Also the nuchal was negative and my 19 week targeted ultrasound showed nothing.

I cannot seem to make a decision that I am comfortable with. My doctor is on vacation and honestly they just don't seem open to my many questions regarding this life altering decision.
At Sat Apr 12, 07:40:00 AM 2008, Anonymous said…

i live in ny and would like for you to do my amnio. is that possible? i would like someone who actually cares about the women going through this and i cannot find that here in syracuse, ny. maybe i have waited too long because i am 20 weeks tomorrow but i have not found the right person to do such am important test up here.
At Tue Apr 15, 04:25:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To anonymous Apr 12: Sorry for the delay in my response, but I have been out of town. If you have negative 'screening' to this point, that means you are below the risk of a 35 year old woman for having a baby with Down syndrome or trisomies 18 or 13! That ain't bad for a 40 year old because your age factors so much into the risk assessment. In the end the choice is entirely yours because you must live with the decision. However, if the ultrasound is 'normal' then that reduces your risk at least another 60-80%! Remember, if you are at "low risk" and have an amnio done and then lose the baby as the result of the procedure, the odds are that you would be losing a chromosomally NORMAL baby under these circumstances. However, if you can't get through the rest of the pregnancy without knowing for sure, then the right choice for you might be to have it done. Think about these things and let us know what you decide and how things turn out. I am betting you have a normal baby myself! Dr T
At Tue Apr 15, 04:28:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To anonymous in NY: I am flattered that you would ask, but there are many very good doctors between Greenville,SC and Syracuse who have plenty of experience. Why were you going to have the amnio done? Is there a local specialist in Maternal-Fetal Medicine with whom your doctor consults? Best of luck to you and please stay in touch. Dr T
At Sat Apr 26, 03:02:00 AM 2008, Anonymous said…

Dear Doctor Trofatter
My name is Michelle and I am desperate for a response. I have just turned 39 and am 14 weeks pregnant. I had the first trimester scan 2 days ago and they told me that I was a low risk for having a baby with Down Syndrome. My result from the ultrasound was 1 in 340. I just cried and cried. I have a 3 year old daughter and when I had the first trimester ultrasound then, the result was 1 in 2138. They told me that I should not compare this result to the previous one, because I am 3 1/2 years older. I have made a tentative booking for the 6th May to have the amniocentesis test, but I am terrified and don't know what to do. I am desperate for some advice
At Mon Apr 28, 12:10:00 PM 2008, Michelle said…

Dear Dr. T.,
I just got back my results from the second blood draw in stepwise sequential screening. I am 33 and a normal screening for someone my age would read 1/405 for downs. The results from my first draw were 1 out of 152 for downs and 1 out of 101 from the second draw. My husband and I had agreed that if the risk went up tremendously we would consider doing an amnio; however, a risk of 1 and 101 is still very small. However, I am concerned that my risk has kept on increasing. I also know that the risk of amniocentesis is very small - even smaller than the typical quote of 1o ut of 200, but I'm still very hesitant to have one done. Based off of my risk assessment, how would you advise a patient how to proceed. I do not know what we would do if we were given a diagnosis of a downs baby.
At Wed Apr 30, 02:21:00 PM 2008, Michele S. said…

Dear Dr. T,
I hope you can give me your opinion. I am 13 weeks pregant (from IVF), 41 years old, and will be 42 on my due date of 11/5/2008. I previously had a miscarriage at 11 weeks due to Trisomy 15 two years ago. This will be my first baby.

My 1st trimester screen was normal, the nuchal test was 1.21 and the other tests showed 1/1000 for Downs and 1/5000 for Trisomy 18. I am scheduled for an amnio on May 19th. Now I'm torn as to whether I still have a need for it. I do have a first cousin with mental retardation in the family and also an autisic first cousin. Please let me know your thoughts.
Thanks, Michele S.
At Wed Apr 30, 06:18:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Michelle Apr 26: Let's put this in perspective. Your calculated risk is about one-third your age alone risk and you have a 339 out of 340 (99.7%) chance that your baby does NOT have Down syndrome. I would think long and hard about having the amniocentesis done at your age without more evidence that the baby ccould have Down syndrome. You are not getting any younger and a 'normal' genetic ultrasound will reduce your risk at least another 60-80%. The choice in the end is yours, but I want you to think about what I have said! Good luck and please let us know how things turn out. Dr T
At Wed Apr 30, 06:21:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Michele S: At your age and with those results, the likelihood that the baby has Down syndrome is extraordinarily LOW and the risk of the amnio gretaer than the risk of Down's. There are other chromosomal abnormalities that are not detected by the screening tests, but you might consider simply having a good genetic ultrasound done before making the final decision regarding the amniocentesis. Good luck and let us know how things turn out. Dr T
At Thu May 01, 06:07:00 AM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Michelle Apr 28: My goodness, the last 3-4 comments on this post are from Michelles, I hope I am not getting all of you confused with my answers. Anyway, in your case, the risk of 1 in 100 is relatively high. You have sevral options: you can await a good genetic sonogram and then make a final decision regarding amniocentesis based on those findings (a normal study reduces you a priori risk by at least 60-80%) or you can proceed with an amniocentesis. I cannot tell you what to do, but if you really are someone who just needs more information, i.e., you "don't know what you would do", sometimes it is better to get that information and the amnio is a relatively safe way to do that. In reality, MOST folks don't know what they do until they have a diagnosis in hand and sometimes their final decisions surprise even them! Good luck with things and let us know what you choose to do regarding the amnio and what you find out. Dr T
At Tue May 06, 12:26:00 AM 2008, katie said…

Hi Doctor
I am just 14 weeks pregnant and I just received my results from my ultra screen today. My results were 1/10,000 for Down's but a scary 1/173 for Trisomy 18 and 13. I am 30 and this is my first pregnancy. I really want to know but I am scared of miscarrying a healthy baby. I have PCOS and only had 3 periods last year and this baby is very much wanted. I have thought about waiting for the targeted ultrasound but I am worried that if tat is not encouraging that I will have to make a difficult decision when I am much more pregnant. Is it ok to go ahead with the amnio now or would you advise me waiting for a few more weeks (what is ideal)if that is what I decide to do? Thanks so much
At Tue May 06, 02:48:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Katie May 6: If you have the amnio done, I would wait until closer to 16 weeks to minimize risks. Quite frankly, the odds are that the baby does NOT have trisomy 18 or 13 and most babies with either of those chromosomal abnormalities usually have multiple physical defects, many of which may be visible by 16 weeks. In the end the choice is yours, but with your medical history, I would lean toward the least invasive approach to help you make the final decision regarding the amnio. Best wishes and let us know what happens. Dr T
At Tue May 06, 11:03:00 PM 2008, katie said…

Thank you so much for your response. I really apprecaite it as I think you have also been sick recently. I hope you are feeling better now.

I also wrote a message on the page about low PAPP-A. I called my doctor and got the figures from them. I also talked to my perinatologist today and she advised I have an ultrasound at 17 weeks and a possible amnio straight after that if the results look in any way concerning.
I am afriad that I have a few other questions
1)Given my low PAPP-A (0.42) and low HcG (0.29)do you think there are other chromosonal problems that the ultrascreen does not detect that are likely?
Maybe it will be useful to know that I am 30, with a BMI of 21, non smoker and non drinker and pretty physically active. My NT was 0.7 and the nasal bone was present in the scan. Also growth of the baby so far looks good.

2) How low are these results really? I cant seem to find information on what is considered a "normal" range for HcG and PAPP-A

3) IS it a good idea to get the AFP test or might that only confuse things and make me more worried?

3) Given my blood tests results are there other things I should be immediately concerned about, such as low amnio fluid or placental problems?

Your response is very helpful I was really hysterical yesterday but hopefully with help from your board I will get through this bad time and so will veryone else. I have a count down until the 27th of May for the ultrasound.
At Fri May 09, 07:42:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Katie May 6: 1) There could be other chromsomal abnormalities that are not effectively detected by the ultrascreen, there could be an abnormality of placentation, or there could be absolutely nothing wrong.

2) Both the hCG and the PAPP-A values are below the 5th percentile for the MoM at he gestational age at which they were performed

3) I would recommend the AFP test alone (not the full 'quad screen') because it may give us some early indication that the placenta is not as healthy as it should be, putting you at risk for poor fetal growth, hypertensive disorders of pregnancy, and need for early delivery.

4) At this point, I do not think there is anything you need to be IMMEDIATELY concerned about. Your baby is normally grown and that is a very good sign. Your doctors will probably continue to follow the baby's growth and at some point perform Doppler studies to assess whether you or the baby are having trouble pushing blood through the placenta. Let them explain that one to you!

Good luck Katie, relax a bit, and let us know how things turn out. Dr T
At Mon May 12, 08:29:00 AM 2008, katie said…

Dear Dr T

Many thanks for your response. I will see my OB tomorrow for my regular check up and I will ask her about the AFP and some other things. I will let you know how I get on.

I guess my main question from your reponse would be what other possible chromosmal problems could my results indiate, and would the amnio or a level II ultrascreen be able to tell me more?

Thanks so much for your advice and support.
At Mon May 12, 09:54:00 PM 2008, Anonymous said…

I am 37 yrs old and this is my first pregnancy, 19 wks, and although ultrasounds at 12 and 18 wk all normal I am having amnio tomorrow based on HCG 79,988 mIU/ml (1.54 mom) and risk estimated based on 1) age alone 1:242 and 2) 15 weeks 1:56. I'm told I will have to wait 3 weeks for results and I would appreciate your interpretation of my risk with these results?
At Tue May 13, 06:15:00 AM 2008, dawnmarie1again said…

Dear Dr. T.,
I'm 35 and currently pregnant with my 3rd child. I have 2 very healthy girls that are age 11 and 4. My third trimester screening with bloodwork came back with a 1/483 chance of having a baby with DS and a 1/10,000+ chance of trisomy.

However, last week (21 weeks and 5 days) I went for my genetic ultrasound. They said that the baby had mild pyelectasis (1 very mild enlarged kidney) and bright bowel which are soft markers for down syndrome. They said that everything else was measuring to the day and the heart, nasal bone, femur, etc. were all looking perfect. They have confirmed that the baby is a boy which could explain the enlarged kidney because it's more common to happen in boys because their "plumbing" is longer.

Based on those 2 soft markers and my age of 35, they drastically changed my chances to 1/13 of having a baby with DS. My husband and I decided that we are going to have the baby regardless, however I haven't had a good night of sleep since. I believe I still have a 93% chance of having a perfect baby. Is my fear of the amnio wrong? I just don't want to loose a healthy baby because of my decision to have an amnio done.

If I did decide to have it later on just to know, what is the latest it can be performed?
At Tue May 13, 12:10:00 PM 2008, Katie said…

Dear Dr T

Sorry it is Katie again.

I went to see my OB today and she was very nice and gave me time and assured me I had picked a great perinatologist. I also have an appointment with a genetic counselor tomorrow which might help also.
I have a few more questions I am afraid. I am really trying to avoid the Amnio because of the fear of complications but I am terrified of going to term with a baby with T13 or T18. I also forgot to mention that I have a liver adenoma that is being watched carefully and going to term anyway might have problems.
I want to know more about the ultrasound I will have on the 27th.
1) Should the ultrasound be 3d or just a high resolution ultrasound? Is there anything I should check in regards to quality of the instrument they have?
2) Is it possible to see malformations for both T13 and T18? I hear that T13 malformations can be harder to spot???
3) Is it possible to see malformations if it is T13 T 18 or T21 mosaicism???
4) Finally, if I have an amnio are there any ways to reduce the risk of infection.? When I asked about miscarriages at the facility I am going to (Atlanta Perinatologist) they told me most seemed to be related to infection. Is this due to the sterility of the equipment or the room used???? Is there anything I can do about this?

Many thanks again for your consideration
At Tue May 13, 05:42:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Katie: The amnio is of course the way to definitively make the diagnosis of a fetal chromosomal abnormality. At least 60-80% of Down syndrome and more than 90% of trisomies 18 and 13 will be detected (at least suspected) by ultrasound abnormalities. Certain chromosomal abnormalities are very difficult to pick up by ultrasound and, particularly, the sex chromosomal abnormalities where the babies hav an extra X or Y chromosome. Some of these will result in positive first trimester screens. You should probably discuss these with your genetic counselor as you weigh your decisions regarding invasive testing. Godd luck again! Dr T
At Thu May 15, 06:33:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Katie: Almost all high resolution ultrasound equipment has 3D/4D capability these days. If your doctor is supicious of a fetal abnormality that might be better confirmed by 3D, they will most certainly do it; and, even if they don't suspect any problems, they will probably give you some pretty pictures of your baby.

T13 and T18 babies usually have many abnormalities and they usually have some degree of 'growth restriction' by midtrimester. They are not oftenn missed, even if a problem isn't suspected to begin with. Mosaicisms depend on how much the baby is affected (what percentage of cells and what organs are involved) so they can be a little tougher. However, again most of these babies will express the phenotype of the trisomy and the baby will have visible abnormalities.

Don't take anything yourself to try to reduce risk for infection. It is still a rare occurrence with amniocentesis. If you express your conscerns to your doctor, I am sure the most they would recommend is that you shower with a surgical prep such as Hibiclens before the procedure. I NEVER treat a patient with antibiotics when performing an amnio and haven't had an infection in over 20 years (knock on wood). Good luck and PLEASE try to relax, Girl! Dr T
At Thu May 15, 06:43:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To dawnmarie: I am sorry, but I would not have increased your risk at all (using the 1 in 483 as your a priori risk and NOT your age) for the unilateral 'pyelectasis.' And, there are many causes of echogenic bowel, the most common being an over call by the sonographer. I am not trying to practice medicine from a distance, but the odds are that this baby does NOT have Down syndrome, despite the 1 in 13 risk you have been quoted. Technically, you can have an amnio ANY time in pregnancy to find out if the baby has a chromosomal problem, but termination of pregnancy is dictated by your state's regulation. You are getting a little late in the game to consider that. I wish you luck, and please let me know how things turn out and if I have given you poor counsel. Dr T
At Thu May 29, 11:09:00 AM 2008, katie said…

Dear Dr T

I just wanted to give you an update on my situation. I went for my appointment on the 27th and the U/S overall looked good. They said that they saw a ouple of Chorid pleuxs cycts but that was pretty common in normal babies. The felt I was too anxious though and that an amnio might be the only way to try and give me some peace of mind.

I wanted to know whether it is likely the baby would have T18 if the only sign was the cysts. Does it matter how many cysts they see? I was a little stressed so I didn't ask if there were any other markers visible. The cysts were the only ones mentioned when I pushed a bit.

I hope the results will only take 10 days. I opted not to get the FISH as I just want the final results.

Thanks so much (I am trying very hard to relax : )

Katie

PS I used the Hibiclens as mentioned in your previous entry to me
At Thu May 29, 06:26:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

Katie: EVERYTHING WILL BE FINE! Thanks for keeping us updated. Get some rest.
Dr T
At Thu Jun 05, 03:23:00 PM 2008, Katie said…

Hi Dr T

I wanted to let you know that I got the results from the amnio back and the results were normal. I am incredibly relieved as you must imagine. Thanks again for all your support.
At Fri Jun 06, 05:57:00 PM 2008, Anonymous said…

Dr. T.-
I'm 17 weeks pregnant and 34 years old. Early screening indicated a risk of 1/300, which my ob said was slightly above average for my age. On Monday I opted for the level II ultrasound and was told the baby had a white bladder and a spot on the heart, but that the spot on the heart was more of an indication for cystic fibrosis versus downs. I did the amnio and am going out of my mind waiting for the results. Is white bladder another sign of cystic fibrosis (dr. didn't mention this, but subsequent on-line research suggests that it it)? Can you tell me my risk factors for downs and cystic fibrosis based on these results?
At Sat Jun 07, 08:30:00 AM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Katie: Best of luck for the rest of the pregnancy! : )
Dr T
At Sat Jun 14, 10:54:00 AM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To anonymous June 6: I never heard of "white bladder" so I am not sure what that measn. Are you sure they didn't mean "echogenic" bowel. There is an association between echogenic (white-appearing)bowel and cystic fibrosis, congenital infections, and certain chromosomal abnormalities. However, that risk depends on the experience of the person interptreing the brightness of the bowel. In many cases this is an over call - in otherwords, it really isn't a problem. Have you yourself been screened for carrier status of cystic fibrosis? If you are NOT a carrier, it is very unlikely that the baby would have it. Since you had the amnio done, you should have the baby's chromosomal results back within a week. Let me know what that shows. I would be very surprised if it turned out your baby had Down syndrome. Best wishes! Dr T
At Mon Jun 16, 07:53:00 AM 2008, Anonymous said…

I am 37 and 13 weeks pregnant. I have two children 4 and 7 and have had two miscarriages in the past two years. My first trimester screening, done at 12 weeks 2 days, indicated a 1 in 2,100 risk for DS and a 1 in 5,700 risk for Trisomy 18/13. I am still considering an amnio based on the high free beta hcg (mom) which was 2.34. Would this high level concern you? Thanks for your help. -Susan
At Mon Jun 16, 10:55:00 AM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Susan: The power of the screening test is in the COMBINATION of the results, not the individual values. I fully believe that, so at this point I cannot be overly concerned because of the hCG result alone! The risk of the amnio is significantly greater than the risk of having a baby with trisomy 21, 18, or 13 and if you were one of those unfortuante people who did lose a baby as the result of the amnio, odds are it would be a completely normal baby. Think about things in those terms! In the end, the final choice is yours, but in this situation I would be remiss if I did not play the "devil's advocate"! Best wishes and let us know how things turn out. Dr T
At Tue Jun 17, 10:21:00 AM 2008, Alex said…

Dear Dr. Trofatter, I am really glad I found this blog article you wrote and was also able to read through the comments - very informative. I am currently in Germany and facing the prospect of getting my information from Doctors who speak a language I can understand only up to 80%. Which is why I've been looking online to try and find some more information. The question I have is how reliable is an amnio in diagnosing DS and the other chromosomal abnormalities it looks for? I've found accuracy figures of between 98% and 99.4%. These are the same sites that list a risk of miscarriage as being 1 in 100 or 1 in 200 (figures which from what I have been reading are out of date). In other words what I am asking is what are the chances of getting either a false negative or positive? Thank you in advance for any information you may have for me.

Regards, Alex

PS. And if by any chance you've heard of a good medical facility in Germany that carries out amnios (particularly in the south) I would be glad to find out about it...
At Tue Jun 17, 01:53:00 PM 2008, Elsa said…

Dear Dr T.
I will be 35 in september and I am 14weeks pregnant, I got my results from the first screening as 1 in 169 for DS and the nuchal area was slightly enlarged at 2.7mm. (I was 13 weeks 1 day) How much can these results improve if we get a AFP test and detailed ultrasound? can it be worth waiting or is it a better idea to go ahead and get an amnio right away? Is there a risk number where you start recommending amnio? Also, how can I find the most qualified/experienced place for the amnio? Does the quality of the ultrasound system reduce the miscarriage risk? Thank you so much...
At Wed Jun 18, 06:56:00 AM 2008, Anonymous said…

I am 36 years old and 18.3 weeks pregnant. I had the NT test done and the sonogram that indicated my risk of a ds baby was 1:3900. I had had the AFP test and my results were normal. When I went for my 18 week sonogram, they found an echogenic heart focus and a two vessel umbilical cord. Both of which they say are not related but my odds of a ds baby are now 1:2200. The number doesn't bother us as much as having 2 things on the sonogram that are not normal. I am a petite woman and the sonographer mentioned that sometimes things like the heart focus are seen in people like me because we are thinner and those things could exist in many other people. We are having genetic counseling appt tomorrow and have an appointment to have an amnio if we are still concerned. I have not slept since last Friday and have been worried since sonogram. How do you feel about the heart focus and umbilical cord? I am going to a high risk perinatal center for amnio - am I risking too much doing the amnio?
At Wed Jun 18, 07:31:00 AM 2008, elsa said…

Hi Dr T,
I wrote the previous post (Elsa) and wanted to add some information that I just asked for regarding my first ultrasound ; The crown-Rump length was 71.3mm, NT 2.7mm, Free Beta 60th percentile, PappA 50th percentile. Thank you !
At Fri Jun 20, 07:32:00 PM 2008, Karen said…

I just turned 40 and just got my amnio results called to me by the physician who performed the procedure. He said that the results were normal for a woman my age, and that the baby appears normal. Are there results that are different for an older woman as opposed to a younger woman?
Thank you for your time.
At Sat Jun 21, 05:27:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Alex June 17: I have probbaly done 20,000+ amnios and I have never had a false positive and the only times the studies were not diagnostic was when the cells just did not grow for one reason or another (and there have not been but a couple of those over the years). Why is it that you are considering having an amnio done? Sorry, but I would not know who to refer you to in Germany. Wish I could help! Dr T
At Sat Jun 21, 05:34:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Elsa June 17: Wheter or not you decide to have the amnio done depends entirely on YOUR risk tolerance. In your risk range, you can choose to do it now or wait until you have more information - a serum screen at 16 weeks and a genetic ultrasound at 18-20 weeks. If the ultrasound is entirely 'normal', that would reduce the risk of having a baby with Down syndrome by at least 60-80% - based on your a priori risk from the first trimester screen, that would place you in a risk range of 1 in 400-500! If you are uncomfortable having your doctor do the amnio (or if they simply do not do them), then ask for a referral to a specialist in Maternal-Fetal Medicine. More important in minimizing your risk than the "quality of the ultrasound equipment" is the skill and experience of the person performing the amnio. Best wishes and please let us know what you decide and how things turn out! Dr T
At Sat Jun 21, 05:38:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To anonymous June 18: Personally, I usually completely ignore echogenic intracardiac foci as a significant risk factor; and, if no other abnormalities are found except the two vessel cord, then your risk for the baby being chromosomally abnormal is lower than the risk of the amnio. But, in the end, the choice is yours because you are the ONLY one who can make the decision that is personally right for YOU! Best of luck and let us know what happens! Dr T
At Mon Jun 23, 04:49:00 PM 2008, Anonymous said…

This is June 6 anonymous reporting back: amnio results were fine! Thanks for responding back to me, I really appreciate it!
At Tue Jun 24, 01:19:00 AM 2008, Anonymous said…

Hi Dr T, I had an amnio done back in April when I was 18 weeks pregnant. All came back fine, so thats a big relief! Just a question for you...I saw my Dr last Thursday for my 28 week check up, and he happened to mention this: I will be at risk of having a low birth weight baby. He says not because of the amnio, but because of my placenta. He said because I got "funny" blood results back (the reason for me having an amnio), the placenta is sending out funny signals, which he says will cause my placenta to not feed the baby properly. Is this correct or is he over reacting?

I need another opinion. What do you think? Many thanks, Rose
At Tue Jun 24, 01:39:00 PM 2008, Alex said…

Hi Dr T., this is Alex (June 17th). Thank you for your reply. 20,000+ results being correct is very good! You asked why I was considering the amnio... originally my doctor talked about the amnio because I will be 35 when the baby is born. Initially, this alone was not a good enough reason for me. However, having giving it some more thought and discussing it with my husband we came to the conclusion that given our current situation, living alone in a foreign country, it is best to be as informed as possible about our baby. We may need to decide to terminate our current contracts and move back home based on the results. This week my doctor referred me to a specialist who does 35 amnios per week. The other finding from this week is that I am Rh negative, this means I will need an injection when I have the amnio (Rhlg I think). If you don't mind me asking another question, I have one more, would being Rh- increase the amnio risk in any other anyway (other than the known risk of me becoming sensitized, which is overcome by the Rhlg injection)? Take care, Alex
At Wed Jun 25, 07:55:00 AM 2008, Anonymous said…

Dr T - My name is Pam I am 41 years old and 14 weeks pregnant with my first baby a spontaneous pregnancy after many failed ivf's so I am not prepared to take any unnecessary risks - I have just received the resuls of my 12 week screening. Fetal CRL at NT Scan 59.3mm Fetal NT 1.0mm Maternal Serum FBHCG 0.48MoM, Maternal Serum PAPP-A 0.31Mom, Downs risk 1:427 and Trisomy 18/13 risk 1:152. I cannot find any comforting information on what makes a low vs high risk - do you have any suggestions or can you give my any sort of comfort level with regard to results above? Thank you
At Wed Jun 25, 09:07:00 AM 2008, Anonymous said…

Dear Dr. T, I am 39 years old and 14 weeks pregnant. I am carrying twins (they share a placenta and a sac - with a membrane separating them). Our NT came back normal (0.8 and 1.0 for each baby) but the serum test came back as increased risk for Down. Since this is a highh risk pregnancy I am worried about having amnio performed. Is the serum count in twins a reliable way to screen the risk?
Thanks for helping us moms-to-be have more peace of mind. Your input is very much appreciated.
Anna
At Thu Jun 26, 05:31:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To anonymous June 6/23: Congratulations and thanks for letting us know. Hope the rest of the pregnancy goes well. Dr T
At Thu Jun 26, 05:39:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Rose: The first thing you need to do is ask that things be explained in their medical terms and then explained in lay terms. From what you say, you probably had an elevated maternal serum alphafetoprotein level. This is made by the baby and a small amount normally gets into your blood across the placenta. There are certain conditions such as when the baby has an opening in its spine (neural tube defect) or abdominal wall that are usually associated with elevated levels in your blood. If the baby is normal otherwise, and the AFP is high, sometimes it indicates that the placenta did not grow normally into the lining of the uterus. This can lead (sometimes, not always) to smaller babies and pregnancies complicated by preeclampsia and early delivery. But in your case, it sounds like things are going wellaat this point, so your risk may not be that high after all. Best wishes for the rest of the pregnancy!
Dr T
At Thu Jun 26, 06:20:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Alex June 24: Being Rh-negative should not increase your risk except for isoimmunization and usually the Rh-immune globulin covers you for that. Good luck and let us know how you do. Dr T
At Thu Jun 26, 06:25:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Pam: At age 41, your first trimester risk for Down syndrome is 1 in 42 and the risk for all chromosomal abnormalities is 1 in 22! So your results are very good and since this pregnancy has been a long time coming, I would not recommend aanything except an AFP screen at 16 weeks and a good ultrasound at 18-20 weeks. Best of luck and let us know how you do! Dr T
At Thu Jun 26, 06:28:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Anna: You will have to give me the actual numbers. What you have provided is reassuring. You might not want to make any decisions regarding an amniocentesis until you have had some good ultrasound studies done on the babies at 18-20 weeks. Best of luck! Dr T
At Fri Jun 27, 12:38:00 PM 2008, S said…

Oh...I'm so happy I found your blog. I am 34 and will turn 35 on my EDD of November 22. I have a healthy 4 year old daughter. Over the last year I have experienced a m/c and 2 chemical pregnancies. After many RE appointments, I was diagnosed with a LPD and used progesterone therapy to sustain this pregnancy. I had my NT scan with a peri and things looked great. Last Monday I went back to the peri for another scan and he found a cyst in the brain. He also says he can only get one "pretty" picture of the feet. (The other foot looks a little blurry but he presumes it to be fine). He offered me an amnio on the spot. I wanted to take a week to think about things. I am very nervous because of the previous losses to mess up a perfectly healthy pregnancy. I was 18w1d on the day of the last scan. My blood work reflects the following: free beta hcg MOM 1.52, PAPP-A MOM .84, Delta NT -.09, nasal bone present, NT (mm) 1.8. DS risks 1/2331 and T18/13 1/>10,000. The MSAFP shows screen negative. The peri mentioned that the cyst could mark for T-18. If I were your friend, would you say go for the amnio or wait it out?
At Sat Jun 28, 08:54:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To S: If it is just a choroid plexus cyst, I would tell you that I would NOT recommend an amnio unless other abnormalities of the baby were found. I consider choroid plexus cysts to be NORMAL developmental anatomic variants as do many other specialist in maternal-fetal medicine. If that is the only marker that points to trisomy 18, then you are safe to IGNORE it completely. The risk of the amnio is greater than the chance this baby has trisomy 18. Regards, Dr T
At Sun Jun 29, 06:50:00 AM 2008, Anonymous said…

Hi Dr,

I am 29 and 18 weeks pregnant with my firt baby, My triple blood test came back with a risk factor for downs of 1:64 which I have found extremely shocking and distressing. I am boked in for a detailed scan on Tuesday with option of amniocentesis. I am so confused as to how i should proceed, what would you recommend based on the various outcomes of the detailed scan? Do you think with my age and risk being so high I should proceed with the amnio regrdless of presence/absence of soft markers?
Thanks for any help you can offer.
At Tue Jul 01, 12:57:00 PM 2008, Anonymous said…

My wife is 13w4d pregnant with twins (we did IVF). She is 33.5 years old, and on one twin the nuchal fold measured 1.7 and on the other 3.1. We have a healthy daughter and neither of us has any other risk factors (that we know of).

Given that information, we are considering an amniocentesis, especially since it seems like the blood analysis won't tell us anything additional unless it is abnormal (in either direction).

My question is, what are the risks in a multiple-pregnancy situation of doing an amniocentesis at this stage? Are the risks for the two fetuses independent?

Also, are there any other factors we should consider? We are trying to balance a complex set of risks, it seems.

Thanks very much...

Tranh
At Tue Jul 01, 05:39:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To anonymous June 29: A completely normal ultrasound should reduce your risk for Down Syndrome by as much as 90%. However, if any major abnormalities or soft markers for Down syndrome are seen, we would ordinarily recommend the amnio. In the end, the choice is entirely yours. Best of luck and let us know how things turn out. Dr T
At Tue Jul 01, 05:42:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Tranh: The risks are independent. If you require two needle sticks, the risk is essentially doubled and it may be slightly higher because of the multiple gestation. Ask your doctor what they consider the risk to be in their hands for a singleton pregnancy. Some will quote as high as 1 in 200, others as low as 1 in 1000 or less. Best of luck to you! Please let us know what you do and what you find out. Dr T
At Thu Jul 03, 01:29:00 PM 2008, Anonymous said…

Tatti

Dear Mr. Trofatter!!!
I am absolutely shocked and just hope that you can help me!!!!!!
I am 36 yers old and 20 weeks pregnant with my second child. I am absolutely healthy, my triple screen gave me 1: 3689 risk for Down and : 8386 for trisomy 13+18. But I went to my second US and they told me I the baby has Echogenis focus, which is a marker for the Down. I am going to detailed US tomorrow and I am really thinking about amnio. What is your opinion?
At Mon Jul 07, 06:45:00 AM 2008, Anonymous said…

Hi again Dr, It is anonymous june 29. My detailed scan showed no abnormalities and the consulant said evrything looked normal and she now put my risk for down syndrome at 1:128 as opossed to 1:64 as before the scan. She said that the scan could only reduce my chances of downs baby by 50% however in your reply to my original post you stated 90% if scan was normal, i was just wondering why these figures are so diferent? obviously I am very happy at the results of my detailed scan and feel that if your opinion is still that my risk is now reduced by 90% then i could now put the worry to the back of my mind and enjoy being pegnant! I have been struggling to eat or sleep since my blood results and am looking for any reassurance. Thank you once again for taking the time to read and respond to my post, it is very much appreciated.
At Sat Jul 12, 07:16:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Tatti: If all they find is an echogenic intracardiac focus I would certainly NOT recommend an amnio. That is a VERy WEAK 'soft marker' and, quite frankly, probably should not even be included in the screening result interpretation. Dr T
At Sat Jul 12, 07:18:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To anonymous July 7: Risk reduction based on a normal ultrasound ranges between 50 and 90%. Many physicians choose to use the lower estimates simply to be conservative. Regardless, no further testing should be necessary for you. Congratulations! Dr T
At Mon Jul 14, 01:57:00 PM 2008, Anonymous said…

Dr T,
I am 31 and 14w3d pregnant with my 4th child. I had teh first trimester screening and the risk for downs was low but the risk for T18 was 1/150. I am 31 years old. While we were waiting for the bllod work to come back, one fo the doctors in the practice told me the u/s looked beautiful, so I am assuming the risk factor is mostly from the blood test results.
My OB wants me to go in for a genetic cousneling appt and then an amnio anytime after the 19th of this month. I am concerend becuase on top of the normal risk for an amnio, I had threatened pre-term labor with my daughter from about 20 weeks on (they were able to hold her of funtil I was term). Does the previous pre-term labor put me at a higher risk with the amnio?
How far could the results from a level 2 ultrasound swing the chances either direction from the 1/150.
I would have a very difficult time terminating a pregnancy - however - I would also have a very difficult time puttin gmy children through the loss of a sibling - they do not currently know I am pregnant.

Thanks in advance!
Kelly
At Mon Jul 14, 07:01:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Kelly: Trisomy 18 babies almost always have major physical abnormalities and growth delays, even in early pregnancy. A normal level 2 ultrasound should reduce your risk 90% or more. Best of luck and let us know how things turn out. Dr T
At Wed Jul 16, 11:54:00 AM 2008, Anonymous said…

Dear Dr Trofatter,

My name is Ruth. I am 38 years old and 14 weeks pregnant with our first child. (My husband is 44.)

I have recently had a first trimester screening that assessed my risks to be as follows - 1:1,177 for Down's Syndrome and 1:4,561 for Trisomy 18. The baby's nasal bone was identified. I have been told that my risks are similar to that of a 20 year old.

Perhaps it is a case of of first-timers nerves, but I feel very aware that unlikely things can and do happen! The chances of me getting pregnant (unassisted) first time at my age are pretty slim! The fact that I have not had one minutes morning sickness is against the odds too! But these things happened! :-)

My husband and I are still trying to decide whether I should have an amniocentesis or not.

We are finding this to be very stressful and I am having sleepless nights... Had I not had these tests, we would definitely have wanted to have had an amnio. Now we are utterly confused! (Friends who have gone straight to amnio seem to have a less stressful time in one way!) We don't want to put a healthy baby at risk, but we also feel quite resentful about the way in which the tests were not really presented as optional (and our doctor does not now want to do an amnio).

The risks that we were quoted for an amnio were 1:100-200 (which seems a bit off?). We are currently living in the Bahamas, but could easily travel to the US for the procedure if necessary.

I would really appreciate any advice!
At Wed Jul 16, 05:24:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

Ruth: One of the advantages of doing the first trimester screening is that it has dramatically reduced our need to do invasive diagnostic studies. I would NOT recommend an amnio at those risk levels, but it is entirely your choice. Just remember, the risk of the amnio is 2- to 5-fold higher than the chance of your havaing a baby with Down syndrome AND, if you did lose a baby as a result of the procedure, the overwhelming odds are that you would be losing a chromosomally NORMAL baby. Good luck! Dr T
At Thu Jul 17, 04:45:00 AM 2008, Anonymous said…

Hi Dr, I am writing from Australia and am 18 weeks pregnant. My 12 week scan gave me a score of 1:1010 for Downs Syndrome ( nuchal was 1.8) I dont know what the bloods were. I will be 38 when the baby is delivered and am constantly filled with anxiety about having not having an amnio. I booked in for one but then cancelled as no one had advised it. What sort of reassurance can I get from the 19 week scan and can I still have an amnio? What should i be asking them to look for? I understand I should have faith in the score, but I could be the 'one'. Is there less chance of a miscarriage having an amnio at 19 weeks? Thanks so much for your time.
At Thu Jul 17, 11:24:00 AM 2008, agoura said…

Hi Dr.
I am 30 yrs old and this is my 1st pregnancy- I am 20 weeks along. I have had an ultrasound at 18 weeks and was called in for genetic counseling b.c they saw a variation- an echogenic focus was found in the left side of the heart. Although they note it's a "soft marker" for Downs Syndrome my Dr. recommened I have an amnio. They said my rate of having a baby with Downs Syndrome (from my APF testing) was 1 in 2600- but now b.c of these new findings my ratio has gone up to 1 in 1445. I know it seems very unlikely- I guess my question to you is- how many children in yor experince have you seen this echogenic focus and they actaully turn out to be healthy babies versus babies being born with a birth defect.
The baby (i was told) was very healthy and growing as it should, and all my testing came back with great results- this has been the only bump in the road. I am going ahead with the amnio- do you think I should really be worried about miscarrying OR having a baby with D.S?
Thanks for your advice!
At Fri Jul 18, 04:56:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To anonymous from Australia: The test result is what it is and in your case it is a very good result. The 18-20 weeks sacn if all is normal will further reduce your risk more than 50% (range 50-90%). You can certainly wait until then to do the amnio and most good genetic labs can give you a result by fluorescent in situ hybridization (FISH) regarding many coomon chromosomal abnormalities (including Down syndrome) in 72 hours or less. The final chouce regarding the amnio is yours, but remember this, if you are the 1 in 200 to 1 in 500 person who LOSES their baby from the amnio, odds are you will lose a perfectly NORMAL baby! Good luck. Dr T
At Fri Jul 18, 05:02:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To agoura: Almost ALL babies with echogenic intracardiac foci (EIFs) are NORMAL. In fact EIFs are present in about one-third of all Asian women. An EIF alone is a terrible reason to do an amniocentesis and I never recommend that to my patients - especially if they have a risk assessment as good as yours. The risk of the amnio is still three to five times greater than the chance of having a chromosmally abnormal baby in your case. And, think about this - if you lose the baby as the result of the amnio, the overwhelming odds are that the baby you lose would be chromosomally normal. Even factoring in the EIF (which I am truly loathe to do), the chance of having a baby with Down syndrome is still much less than your age alone risk! But, the final choice is yours. Good luck! Dr T
At Tue Jul 22, 03:46:00 PM 2008, Anonymous said…

Hi Dr. T. I am 36 years old and am 17 weeks pregnant with my 3rd child. I received my quad screen results last week with a 1/120 risk of downs syndrome. I went for my geetic counseling and level II ultrasound but elected not to do the amnio b/c the dr. said that my u/s looked perfectly normal. She said that my risk is lowered 50% and is now 1/180. I have been tormenting myself daily as to whether I should go back and do the amnio so I can know for sure. My mind is focusing on he .05% of having a downs baby and the .05%-1%chance of miscarrying due to the amnio. Thanks for any comments of reassurance. Kristen
At Wed Jul 23, 01:35:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Kristen: I perfectly "normal" ultrasound probably lowers your risk even more than 50%, But if you have to know, there is certainly ohing wrong with ahving the amnio. Generally, the risk of the amnio is also less than 1 in 200. Again, in some hands, the risk can be less than 1 in 1000Only you can make that choice because you have to live with the outcome, regardles of what that is and what we may advise you. Please let us know how things turn out. Dr T
At Wed Jul 23, 01:48:00 PM 2008, Anonymous said…

Dr. T.,

I have been reading this blog for the past 10 weeks of my pregnancy. After my Ultrascreen results at 11.4 weeks we were told we had a 1/223 chance of having a T 13/18 baby. My abnormals were my NT at 2.6 and bHcG at 0.31. I am 32 and this is my 3rd pregnancy. We opted out of having an amnio after alot of thought and discussion. Anyhow, my 17.4 week US by the perinatologist was absolutely perfect. She saw no abnormalities on our little girl and she was measuring right on everywhere. We were on cloud nine and feeling very positive, cautious but positive. I went in yesterday for our next US at 20.2 weeks and again she looked fabulous but she did discover that she only has a two vessel cord. She couldn't find anything wrong with the heart but we are going to Tx Childrens next week for the cardiologist to verify that. I do trust my perinatologist though as she is highly regarded in the Houston area but am relieved to see my little girl's heart again next week. So, to make a long story short - is there any correlation b/w the two vessel cord and the low HcG and increased NT? I am relieved to see she still looks great but I feel like this is another strike against us pointing to T13/18. I of course didn't think of this question while at the Dr's office and see that you always provide such insightful responses. Thanks in advance!!

sdb
At Thu Jul 24, 07:45:00 AM 2008, Tamera said…

Dr. Trofatter,

My regular OBGYN sent me to a perintologist because my titers were 1/16 and they are worried that the baby has Kell antigen (I am negative and have antibodies from my first child - and my husband's test results came back that he carries both Kell and Cellano) so baby has 50% chance of having the Kell antigen. I was scheduled for an amnio yesterday and for some reason at the last minute thought it wasn't the right thing to do. They can follow the babies progress through level 2 ultra sounds using doppler. I would have to go in once a week for entire pregnancy. I could have the amnio and find out for sure and then either be done with testing or if baby has Kell antigen still have to be monitered once a week. What are your thoughts on my getting the amnio done. I'm at 20 weeks and 5 days and age 39.
At Fri Jul 25, 09:03:00 AM 2008, Anonymous said…

Hi dr. T,

I am 37 yrs old and pregnent with my third child. I had one first trimester miscarriage. My first trimester screening came out normal and I am scheduled for Amnio on Aug 13. However I am having second thoughts about the procedure. The doctor has not ordered the second trimester blood screening. No Family History. The only reason for Amnio is my age. I am confused if I should go ahead with Amnio or do the second trimester screening to avoid it. Any suggestion will be appreciated
At Fri Jul 25, 05:53:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To anonymous July 23: Two vessel cords are not that uncommon and why they occur is unclear. Perhaps it is the result of a vascular accident very early in the pregnancy as the consequence of an abnormality of placentation. If the latter is the case, that might account for the low hCG during first trimester. I have been amazed at the regenerative capacity of the placenta under these circumstances. As for the NT, it was at the upper limits of 'normal' range, so I am not overly stressed out about that at this point either. I still think it is VERY unlikely the baby has trisomy 18 or 13 if a perinataologist saw nothing wrong with the baby other than a two vessel cord. Please keep us updated on what you find out. Dr T
At Fri Jul 25, 06:01:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Tamera: Doppler studies of the fetal middle cerebral artery (looking a the peak systolic velocity) have become the accepted standard for screening for fetal anemia in cases of isoimmunuization. I don't know if you really need to go every week if the measurements are well within the normal range. The freqency of visits can always be increased if the studies start creeping up. The amnio is entirely your choice - at this point it is not something you have to do if you don't want to, but if the baby was Kell negative, it sure would save you a lot of office visits! There is some risk to the amnio as you know and in your case there is the added risk that if the baby is Kell-positive, it might make your antibody titers rise even higher if you get exposed to some of the babies blood. Please let us hear how things turn out and best wishes. Dr T
At Fri Jul 25, 06:02:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To anonymous July 25: What was the result of your first trimester screen?
Dr T
At Sat Jul 26, 09:24:00 AM 2008, Laurie said…

Hi Dr T.
I am 44 and had a healthy son at age 39. I had 3 miscarriages since his birth. I am now 14 weeks pregnant. I got my results back and the risk is 1:170 for downs and 1/10,000 for trisonomy. NT was .94 PaPA was 1.01 and HCG was 1.31. I am not sure about amnio. Can you offer any advice? I also have fibroids and read that may make amnio more difficult.
Laurie
At Mon Jul 28, 04:52:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Laurie: Those are very good results for a 44 year old woman. This may be your last shot at success and the odds are that this baby is chromosomally normal. All that said and done, the final choice is yours regarding an amnio. It all depends on how badly you need to know for sure before the baby is born. By the way, fibroids can increase your risk of an amnio. Let us know how things turn out. Dr T
At Tue Jul 29, 07:46:00 AM 2008, Anonymous said…

Dr. T,

I'm 30 yrs. old with a positive quad screen of 1/150 for downs. My targeted ultrasound was normal. We decided against the Amino. What is my overall risk at this time?
At Tue Jul 29, 10:34:00 AM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To anonymous Jul 29: I quote people a risk reduction of 60-80%. In otherwords, your risk is less than 1 in 300 (probably 1 in 400-500). Chances are everything is fine. Best wishes! Dr T
At Wed Jul 30, 08:19:00 AM 2008, Anonymous said…

Hi Dr. T,

This is a wonderful blog!! I live overseas and had the combined Nuchal test done at 11 weeks 5 days and the results were very good. 1 in 3000 for downs syndrome 1:130 based on maternal age alone, they did not show a result for t 18 (should they have), my papp was 2.28 mom and hcg 1.23. they do not provide genetic counselling here but because of my age have reccommended an amnio. It is scheduled for next week (16 weeks) My husband and I would terminate if we found out that the child had ds. I do not know whether to have one or not, I am so scared that I could have a miscarriage with the procedure. Any insight would be helpful!! thanks
At Wed Jul 30, 11:38:00 PM 2008, Alex said…

Hi Dr. T.

Its Alex from June 17th. Returning to let you know what happened. I had my amnio a couple of weeks ago. It went well, it was done without any anesthetic or anything to numb the area... for me it hurt less than when I have blood taken out. 24 hours later I got the first results, all OK. Yesterday I got the full results, also OK. And I also found out we are having a baby girl. The doctor I went too was very experienced and does 35 amnios per week on average.

Take care, Alex
At Thu Jul 31, 12:15:00 PM 2008, Anonymous said…

Hi Dr. T -

Glad to have found this forum as I need advice. I'm 38 with 3 prior misscarriages that I know of and I'm now 14 weeks pregnant. My ultra-screen came back as 1 in 5,521 for trisomy 18/13 and 1 in 187 for downs. The downs screen states I'm at increased risk, and the doctor wants me to have an amnio, but I'm nervous about misscarriage risk, especially since I probably don't have many chances left at this age. Also, the 2nd reason they want me to have the amnio is because I have a chromosomal balanced translocation 7/10, or more specifically; 46,XX,t(7;10)(q11.21;p15). In the diagram they gave me, it's the two vastly bigger pieces stuck together and the two mini ones stuck together. How does this change the urgency for amnio? Just based on my chromosome diagram, I think anything unbalanced would be REALLY unbalanced and would not have survived this long. Thanks for any thoughts you have - Kelley
At Tue Aug 05, 12:40:00 AM 2008, Anonymous said…

Hi, doctor I'm Laura I'm 20 weeks and my blood test did 1 and 100 to have a baby with problems, this is my second pregnancy but my fist baby because I lost my baby when I was 41 weeks pregnant without explainable reason. In my first pregnancy I have the same blood result and I did the amniocentesis and the result was negative and my doctor told me that the baby was healthy. I am scare, I am going to have an appoinment for another ultrasound should I take the result of the ultrasound as guide to avoid the amniocentesis?
At Tue Aug 05, 12:44:00 AM 2008, Anonymous said…

sorry doctor i just wrote a message for you and i fotget to tell you my age 29, laura. of my second pregnancy and I lost a baby of 41 weeks.
At Tue Aug 05, 05:14:00 AM 2008, Jenny said…

Hi there, at what score would you recommend an amnio. I am 38 and recieved a score of 1:1000 for T21.
At Tue Aug 05, 01:38:00 PM 2008, So8 said…

Hi, Dr T, I recently had the triple T test done, from wich I learned that I have a 1/81 for Downs, so, I had the amnio done 4 days ago, but now, as I am anxiously waiting for the results, I cant help wonder what else can I do to prevent the risk of miscarr. as I was very well informed and aware of the risk that this procedure involves. Please if you can leave me any piece of advise, will be highly appreciated. Thanks!!!
At Wed Aug 06, 06:35:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To anonymous July 30: The final choice is yours, but I certainly would NOT recommend an amnio with those results. You have less than half the risk of having a baby with Down syndrome than a 16 year old. The risk of the amnio ranges between 5 and 15 times higher (depending on the experience of the operator) than the chance this baby has Down's. And, if you should lose the baby as the result of the procedure, the overwhelming odds are that you would be losing a chromosomally NORMAL baby. I would tell you to "trust the test results" but, if you clearly understood all that I have told you, and still wanted to have the amnio done, I would do it for you. The choice is yours! Good luck and let us know how things turn out. Dr T
At Wed Aug 06, 06:36:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Alex: Congratulations! Best wishes for the rest of the pregnancy and let us know when she is born. Dr T
At Wed Aug 06, 06:40:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Kelley: Although your observations are correct (all of them) we often recommend an amnio to women with balanced translocations. I am honestly more worried that the baby could have some subtle chromosomal abnormality than Down syndrome. You might wait until a targeted ultrasound is done at 18-20 weeks before deciding. These are the hardest decisions in the world for someone in your circumstances - so go with your gut! Please let us know how things turn out. Best wishes! Dr T
At Wed Aug 06, 06:44:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Laura: History tends to repeat itself in OB. The odds are that the baby is normal (if the last one was), but you are probably at increased risk for another late pregnancy loss. If the ultrasound is completely "normal" you might want to hold off on the amnio, but I would ordinarily recommend serial ultrasounds to assess fetal growth, Dopplers, and well-being as the pregnancy progresses. It might also be prudent to consider an amnio at 38-39 weeks to confirm fetal lung maturity and then induction of labor a little bit early. Good luck and let us know what happens. Dr T
At Wed Aug 06, 06:48:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Jenny Aug 5: I would not recommend an amnio with that result. The risk of the procedure is probably at least twice that and if you lost the baby as the result of the amnio, the odds are it would be a chromosomally normal baby you would lose. However, if you still wanted it done, and understood these facts, I would certainly do it for you. The choice is entirely yours. Best wishes! Dr T
At Wed Aug 06, 06:50:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To so8: The risk of miscarriage from the amnio is still low. Odds are you will do just fine. You are outside the 'immediate danger' period and probably no unusual restrcitions are necessary at this time. Best of luck and please let us know the results! Dr T
At Thu Aug 07, 01:38:00 AM 2008, Jenny said…

Thanks Doctore, I actually live in London. I have also just had my 19 week scan and all was normal. Does this reduce the risk of T21 again? These decisions are so difficult. I should have confidence in what you are recommending.
At Thu Aug 07, 07:39:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Jenny Aug 7: A normal ultrasound at this point reduces your risk at least 50%! Good luck! Dr T
At Fri Aug 08, 06:41:00 AM 2008, Sharui said…

Dr. Trofatter, I hope you can help me. I am 36 and pregnant. I had the nuchal screening at around 12 weeks & the AFP at 12 and 16 weeks (is this called the triple or quad screen?). My results were good, 1:950 for Downs Syndrome and 1:10,000 for trisomy 18. At 19 weeks I had a detailed US scan and all was normal except for a single unilateral small choroid plexus cyst. The baby also had a normal fetal echo at 22 weeks (I had an ASD personally so they recommended it). My doctor advised that with the good T18 results and the fact that the CP cysts by themselves are soft markers that my risk was still extremely low for T18 & advised against amnio but wanted a follow-up US in later 2nd trimester. I am now 26 weeks & the US is next week & I'm still terrified the baby has T18--with my results what do you think? Will this next US be able to almost completely rule out T18 if they don't find other markers? I am of course going to term, but I want to be as reassured as possible that the baby is healthy. Thanks so much!
At Sat Aug 09, 06:05:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Sharui: Listen to your doctor. The overwhelming odds are that your baby does NOT have trisomy 18. Most babies with trisomy 18 do not grow normally and have multiple abnormalities that would have been detected with the careful ultrasounds you have had. The CPC will probably be gone by the time you have another ultrasound and there are no long-term problems associated with them in 99.999% of cases. Best wishes for the rest of the pregnancy!
Dr T
At Mon Aug 11, 12:58:00 PM 2008, Anonymous said…

Dr. T: I am 17 weeks pregnant with my 3rd child, the last one having T21. During my last pregnancy, the first trimester NT and blood tests showed increased risk of Downs (1:84), then the US showed a heart defect typical of Downs as well. We did amnio. Now this pregnancy has not shown the increased risk of Downs (1:1600 after the first trimester screen, 1:24,000 after the modified screen), but the modified screen now shows a slight elevation in MSAFP to 1.98 MOM. This gives us a risk of spina bifida of 1:330. We had an ultrasound last week that looked normal, but I'm still worried about spina bifida. Would you recommend amnio in this case? I would love to do it, but obviously am worried about the risks.
At Tue Aug 12, 05:25:00 PM 2008, Anonymous said…

Dr. T,

This is anonymous from July 23rd. We had our fetal echo at Tx Childrens and all looked great. I was back at the peri today and baby looked great but is starting to trail behind in size. 3 weeks ago she was 5 days behind and now she is 9 days behind. So, I go every 2 weeks now to monitor her more closely. My boys full term were only 6 lb babies - I'm only 4'11' and was a tiny baby myself. Is 9 days really a huge deal in your opinion? My peri and regular ob seem to have different opinions on this.

Thanks,
sdb
At Tue Aug 12, 07:47:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To anonymous Aug 11: A good ultrasound should be able to rule out a significant neural tube defect without an amnio and at that MSAFP level, it is very unlikely anyway. But, that choice is yours and if you are still worried that the baby could have a chromosomal abnormality, that question could be answered at the same time. Dr T
At Wed Aug 13, 06:06:00 AM 2008, Michelle said…

Dear Dr. Trofatter,
I am a 32 year old woman who is pregnant with her second child. At about 13 weeks I had an ultra-screen done with the results of: Free Beta %:97.5, Free Beta MOM: 2.68, PAPP-A%:30, PAPP-A MOM: 0.69. These results increased our risk of having a Downs baby from 1/450 (based on maternal age alone) to 1/208. We were told that the nuchal translucency measurements were normal at this ultra-screen (1.4 mm). Since we wouldn’t terminate the pregnancy either way, we decided against getting an amniocentesis and looked forward to more information at the 20 week targeted ultrasound. Everything looked fine at this ultrasound other than a “generous nuchal fold (7.1 mm) but no other apparent dysmorphic features or markers of aneupoloidy on targeted evaluation”…also, the “biometry is symmetric and generous for the established dates.” Unfortunately, this upped our chances of having a Downs baby 10 fold to 1/20. It is now 4 weeks later and after some initial anguish of “what if…” we are feeling at ease with these results. However, we would like to get an amniocentesis done when it is the MOST SAFE, just so that we can know what to expect on the day of the birth. Two questions for you: based on the results of our screens, are these measurements and their corresponding Downs percentages accurate? Also, given our situation, when would be the safest time for us to get an amniocentesis done? Should we wait until 30 weeks? 35 weeks?
I was so excited to find your responsive and informative blog on the web and look forward to hearing your response.
Thanks, Michelle
At Wed Aug 13, 01:54:00 PM 2008, Amy said…

Dear Dr. T,
I'm 34 and 17 weeks pregnant, trying to decide whether to have an amnio because of an elevated risk of Down's. We would probably terminate if we learned the baby had Down's. Our first trimester screen was fine, just the age-related 1/416 risk of Down's (lower for the other trisomies). But the Quad Screen came back with a 1/136 risk. My ob sent me for an early Level II u/s, saying that if they didn't see anything they could reduce the risk down to 1/270. (That is of some comfort and I think it means we wouldn't do the amnio, but I'm not sure and am wondering what you think about that). Unfortunately, the ob said they didn't see enough (limited views of the heart and the hands) so they couldn't reduce the risk. We're going back for another u/s next week, hoping we'll get more info then. Also, I feel more comfortable having the amnio, if we need one, done by a high-risk specialist, but apparently my ob likes to do her own. The ob quotes the risk of miscarriage from amnio as 1/300, but I know the high-risk folks associated with the hospital quote much lower numbers. I'm terrified at the prospect of losing the baby (it took so long to get pregnant!)So here are my questions: given a 1/136 risk of Down's, would you recommend doing an amnio? With risk of 1/270? And is it worth trying to fight for the specialist? Thanks so much.
At Wed Aug 13, 06:46:00 PM 2008, Julie said…

Dr. Trofatter,

My name is Julie. My age is 33 and will turn 34 by my due date in December.

My serum integrated test results were 1:3600 for Down Syndrome and even lower for trisomy 18.

I have a healthy 2-1/2 year old and had a miscarriage before that due to incompetent cervix. I have a cerclage placed during the 15th week of pregnancy.

I am 20 weeks now and Dr. found choroid plexus cyst and echogenic foci in both ventricles
during Ultrasound last week.
My OB-GYB did not want me to go for amniocentesis so he asked me to go for Genetic Ultrasound
in a high risk pregnancy hospital. They did not find any of the markers during that ultrasound.

Now my Dr says we will monitor the markers but I am really at a low risk for DS.
We are still concerned to know that markers were found in one ultrasound and not in another.

What is your opinion about my risk of having a baby with down syndrome.

Thanks in advance.
At Fri Aug 15, 09:34:00 AM 2008, Tanigold said…

Hi Dr. Trofatter,

I am 38 and pregnant w/ my 1st child. I had a 1st trimester screening and my risk for Downs came back as 1:1057. At the end of my 17th week, I had a detailed ultrasound and they found a soft marker (EIF) and raised the Downs risk to 1:587. We are upset that the risk was raised by 50% and am wondering if we should get an amnio. So far though the risk of miscarrying due to the amnio is higher than the risk of having a baby w/ Downs. But are still unsure and would like your advice on whether to go forward or not w/ an amnio.
At Sat Aug 16, 06:26:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Michelle: Based on the information you have given to me, the risk assessments your doctors have provided are accurate. If you really want to know prior to delivery, and to prepare adequately, I wouldn't recommend waiting beyond 30 weeks and probably the sooner the better. Most doctors will simply tell you to wait until delivery if you ettoo fr along. Even at 1 in 20, you still have a 19/20 chance the baby is chromosomally normal. Good luck and please let us know how things turn out.
At Sat Aug 16, 06:33:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Amy: You got trapped. Personally I would NOT have offered you a "quad screen" - just the AFP part of that at 16 weeks. I see this happen all the time. I have more faith in the first trimester screening although studies show the two are fairly comparable in their risk assessment. Your true risk probably falls somewher in between. So, my friend, it's your call. Different individuals have different thresholds of risk tolerance. Odds are this baby is chromosomally normal, but YOU must decide if you cannot continue the pregnancy without knowing for sure and then live wih that decision. Best of luck and please let us know what you find out! Dr T
At Sat Aug 16, 06:36:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Julie: I think your risk is "1:3600 for Down syndrome and even lower for trisomy 18." Unless something else is seen by the specialists, I would base any decisions you make regarding invasive diagnostic testiing on those ariginal results. Best wishes for the rest of the pregnancy! Dr T
At Sat Aug 16, 06:38:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To tanigold: Most EIFs have NOTHING to do with chromosmal abnormalities. If that's all they found, and based on your great first trimester test results, I would have a very hard time recommending an amnio in your case. Dr T
At Sat Aug 16, 06:54:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To sdb Aug 12; At your small stature, odds are the baby is simply "constitutionally" small, ie., has your genes! Good luck and let us know how things turn out. Dr T
At Mon Aug 18, 05:40:00 PM 2008, Anonymous said…

Dear Dr. T,
I am 41 years old and 13 weeks pregnant with my 3rd child. I'm scared to death of having a child with an issue - would likely abort as I have a very challenging time caring for my other 2 children. However, I know that if I lose the baby due to the Amnio, I will be haunted for quite some time. I have been reading so much about the risk rates associated with all of these non-invasive tests and I wonder what would happy that these tests would actually "miss" a problem. I simply do not know which way to go and any help would be greatly appreciated.

Marie
At Thu Aug 21, 11:26:00 AM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Marie: It is VERY UNLIKELY that an amnio would miss a chromosomal abnormality, but an amnio cannot detect all genetic abnormalities, and babies can have other problems, whether or not they are chromosomally normal that might not even be detectable by ultrasound before birth. If you do not think you could handle a chromosomally abnormal baby, then the best bet is to go with the amnio. Of the invasive procedures, it is the least risky. Good luck and let us know how things turn out. The noninvasive risk assessments are simply screening tests. They all have false-positive and false-negative rates (the latter usually in the range of 5%). False negative means the test comes back "reassuring" but the baby really has Down syndrome or another chomosomal abnormality. There are also chromosomal abnormalities that will not be detected by the 'screening' tests and only by amniocentesis or CVS. Best wishes and please let us know how things turn out. Dr T
At Fri Aug 22, 11:30:00 AM 2008, Kelly said…

I wrote to you back on Jul 14th. We had been given a high risk of Trisomy 18 from the 1st trimester screening. Well 2 amnio's later (the first one did not culture) we got back FISH results of Mosaic Turner's w/Triple X. (45,X/47,XXX)

Compared with the alternative of trisomy 18, we are taking this as good news, even though there still may be challenges. Do you know if there is any evidence that Turner's shows a higher risk on teh 1st trimester screening, or if this is a case where we had a false positive and by dumb luck were able to catch this and better prepare for it?

Kelly
At Tue Aug 26, 06:34:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

Kelly: The first trimester screening can help pick up numerous chromosomal abnormalities, but quite frankly, as in your case, there is not enough data to tell us the accuracy of the risk assessment for the unusual cases such as yours. Thank you for letting us know. As I have told so many other readers, we are ALL here to learn and I appreciate your feedback. Best wishes. Dr T
At Fri Aug 29, 10:42:00 PM 2008, ashley said…

Dear Dr.T,
I am 40 year old and 20 weeks pregnant with a baby boy. My perfectly helathy older son is 11 years old.
the NT scan measures a 2.2cm thickness at 12 weeks and 3.0 cm thickness at 17 weeks. The quad screen gave a risk of 1:600 for DS. So,far all ultrasounds have been normal. The US tech commented tat he baby is very active ! Yet I am nervous and scared that the baby may have chromosomal abnormality. I would like to go for amnio just to reduce my anxiety. I am not sure what I would want to do if the baby is not normal. Just wondering until what gestational age is medical termination of pregnancy legally allowed in the USA? Please let me know. Thanks so much for this wonderful blog.
At Tue Sep 02, 06:00:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Ashley: Although the odds are in your favor that this baby is chromosomally normal, "maternal anxiety" is a perfectly legitimate reason for having an amnio done, especially at your age. Just remember, if you lose the baby as a result of the procedure, odds are that you would be losing a normal baby. Gestational age for pregnancy termination varies by state. But, remember, babies at 23-24 weeks now have a chance of survival now, so if you end up choosing that route, for everyone's sake, try to do it before then and go to a provider with good experience in midtrimester terminations. Good luck to you! Dr T
At Fri Sep 05, 07:56:00 AM 2008, Chloe said…

Hello Dr. Trofatter.

I am nearly 37 and am 18 weeks pregnant with my first baby. I had an Addmark test (combining a nuchal scan and blood test)done at 13 weeks of pregnancy from a reputed private screening centre in the UK and the risk factor for Down's Syndrome came out as 1 in 1100. I also had only a triple test done at an NHS hospital at 16 weeks of pregnancy. I have just obtained the report for this second test and the risk factor is 1 in 10 ! I know the nuchal scan is more reliable, but am totally confused and can't decide what to do now. Could you please advise? Thank you in advance. --- Chloe
At Mon Sep 08, 02:19:00 PM 2008, Annie said…

Dear Dr. Trofatter,
I am a 40 year old woman who is pregnant with her first child through IUI. At about 12 weeks I had an NT-screen done with the results of: Free Beta %:40., Free Beta MOM: 0.87, PAPP-A%:70, PAPP-A MOM: 1.43. These results showed our risk for Downs as 1 in 1,561 and for Trisomy 18/13 as 1 in 2,741. I really dont want to do the amnio, however, I am fearful that at my age, I may need to. Please give me your opinion on my results and whether you think its important that I have the amnio.

Thanks so much for your help. I read your blog all of the time...I have become obsessed by this and need some peace of mind...Annie
At Mon Sep 08, 06:42:00 PM 2008, emily said…

Thank you Dr. Trofatter for this much needed information!!! I am 33 years old and will be 33 years 10 months when I deliver my twins. My results from the first part of my sequential screen came in as 1 145 chance of Downs. I am told there is no way to accurately diagnosis twins with Trisomy 18 in utero? This number varies wildly with the 1 in 2000 or so number I was given with both of my singleton pregnancies. I went in to talk to my doctor in person about the results because they were so upsetting to me. He said that with the Genzyme Sequential Screen there is a risk positive cut-off of 1 in 50 for the first part of the sequential screen so I actually screened negative. This is so different from the other cut-offs! He does not seem to be worried about my case as my nuchelfold (spelling?) measurements at 8 weeks were 1.7 and 1.8 and past history of healthy babies. Also-he stated twins are more likely to throw off bloodwork. I have the second part of the sequential screening scheduled for this Friday. Please help with the following questions.

1) Have you ever heard of such a low risk threshold of 1:50 for the first part of a sequential screen (Genzyme is who they use)

2) Are twins more likely to create false positives or lower scores?

3) Since my first number was 145 and the second part of the sequential screen has a threshold of 270 or so is it definite that I willscreen positive in the second screening?

4) To get the accurate risk of amnio with twins do you double the risk for a singleton amnio?

THANK YOU!!!

Emily
At Sat Sep 13, 05:06:00 PM 2008, Colleen said…

Hi Dr. T, it's Colleen - I posted a few months ago several times on the low hcg board. I'm about 15 weeks pregnant now, no bleeding or any other concerning signs. I have a doppler, and baby's heartbeat is around 150, so things seem to be progressing normally. have seen my midwife once, and have next visit scheduled in a few weeks.

i'm 41. have an amnio scheduled on monday. didn't do any screening as i was sure i wanted the amnio to know for sure what we're dealing with - i was quite depressed for a long time after my daughter was born, and am not sure i could manage a child with genetic abnormalities. that said, i'm not sure i could go through with a 2nd trimester termination either.

i am aware that this will likely be my last chance to have a baby - my eggs are getting old, as i am, and i really don't want to go through another 1st trimester of exhaustion and illness.

but i'm suddenly so anxious about the risk of losing the baby due to the amnio. what screenings can be done at this point to reassure us without increasing the risk? i had a miscarriage 10 mths ago, but very early in the pregnancy, i don't think i'm prone to miscarriage just that that baby was not healthy.

is it likely that becuase of my age the amniotic sac will tear or not heal properly?
At Sun Sep 14, 12:28:00 PM 2008, Anonymous said…

Dr. Trofatter,

My wife is 46 and pregnant with our third child. We had intended on having an amnio done simply because of her age, but our insurance company has introduced a hiccup.

The short is that they said we we're referred to an incorrect, out of network Ob/Gyn. They only have a single in-network Ob/Gyn in all of Los Angeles qualified to perform the amnio. Because of his schedule, he has told us he is unable to do the amnio and would like to send us to a free state program.

The concern is that the doctor in this state program only opened his clinic early this year after bouncing around at 2 other offices the last few years. He went to a school "Ross University" in the Dominica which is ranked in the bottom quartile of med schools.

We still have a week or so to fight the insurance company to get them to authorize the amnio with a doctor in their system. If they don't, though, do you have a sense of how variable the miscarriage rates could be or if it's possible to get data on particular practitioners?
At Sun Sep 14, 12:35:00 PM 2008, Anonymous said…

Dr. Trofatter,

My wife is 46 and pregnant with our third child. We had intended on having an amnio done simply because of her age, but our insurance company has introduced a hiccup.

The short is that they said we we're referred to an incorrect, out of network Ob/Gyn. They only have a single in-network Ob/Gyn in all of Los Angeles qualified to perform the amnio. Because of his schedule, he has told us he is unable to do the amnio and would like to send us to a free state program.

The concern is that the doctor in this state program only opened his clinic early this year after bouncing around at 2 other offices the last few years. He went to a school "Ross University" in the Dominica which is ranked in the bottom quartile of med schools.

We still have a week or so to fight the insurance company to get them to authorize the amnio with a doctor in their system. If they don't, though, do you have a sense of how variable the miscarriage rates could be or if it's possible to get data on particular practitioners?
At Mon Sep 15, 03:21:00 AM 2008, Poorband Tony said…

Hi Dr,

I hope you might be able to offer a little advice to me and my partner. Our blood test came back last week with the midwife telling us our 'odds' are 1/80 for DS. For the past week we've been agonising over whether to have the amnio which is due today. We had a detailed scan last Friday and everything was fine - normal bone length, nasal, heart etc.

Given the clear ultrasound, we just don't know what to do - and in a few hours we've got to make up our mind as we're 19 weeks today.

I realise that you can't offer any personal decision as such, but any objective advice you could offer would be much appreciated.

Cheers,
Tony + Caroline
At Mon Sep 15, 02:35:00 PM 2008, Colleen said…

Hi, it's Colleen again. I had the amnio this morning, and other than mild cramping have had no side effects. They noticed during the ultrasound that I have a marginal cord insertion (I'm 15 weeks), possibly velamentous? insertion. So I am to go back to McMaster Hospital in 3 weeks for another u/s rather than just a community u/s lab. They also recommended regular u/s at their site to monitor growth. They seemed quite certain of their findings. Do you know about this condition? My midwife says at this point in the pregnancy it's too early to be sure and even at 18wks it might be too early to discuss ramifications on the birth plan. I have a sense though that this will rule out a home birth.
At Fri Sep 19, 09:24:00 PM 2008, Anonymous said…

Hi dr Trofatter,

I am 28 years old and 17 weeks pregnant. my first ultrasound shows my baby's neck has more fluid than normal and increased risk of down. after my blood works my doc told me that I have risk for down 1:75 and after second blood work shows risk decrease to 1:475. also my dr told me my age risk is 1:650 and cut off is 1:250 please help me I don't know should i take amnio or not
At Sun Sep 21, 06:54:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Chloe Sept 5: Your real "risk" probably lies somewhere in between, but that second test result is very scary. I recommend you spend some time with a genetic counselor who can look at the individual test results and provide you with some good information upon which to base a decision regarding an invasive diagnostic study. It will probably be recommended, regardless of the first trimester screening result. Good luck! Dr T
At Sun Sep 21, 07:00:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Annie Sept 8: Those risk results are wonderful (risk are less than a 16 year old girl). We would certainly not recommend an amniocentesis because the odds would be so high that you would be losing a perfectly normal baby if there was a complication of the procedure. All that said and done, if you cannot live without knowing for sure, you have the right to ask that it be performed. It is entirely YOUR decision. Best wishes. Dr T
At Sun Sep 21, 07:46:00 PM 2008, Anonymous said…

HI, Dr. Trofatter!
I have a question about how reliable US is in detection a true gestational age. According to US I am 32 weeks now, but if I count 32 weeks back - then I got pregnant right before my last periods. Is that possible?
At Mon Sep 22, 12:20:00 PM 2008, Anonymous said…

Dear Dr. T: I am 42 years old and 21 weeks pregnant with a seemingly healthy boy. the result of combined creening test, first and second trimester blood tests and ultrasound gave me a 1/3800 for Down syndrome, 1/8000 for trisomy 18 and 1/10000 for spina bifida. The 20 week ultrasound showed no indication of a physical problem so my doctor said that would give me another 50%. so the risk of Down syndrome would become 1/7600. At this point as happy as I am to see this results, I am very concerned about making the right decision. should I do the amonio or not? my concern is mostly due to the 10-15% chance that the screening test could miss to detect the Down syndrom and that 50% of the abnormal babies do not show any physical problem at all. This is my first and probably only pregnancy at my age and I don't want to loose my baby. also the thought of having an unhealthy baby with Down syndrome is very distubing for me. Can you give me advice? Thanks! (from Rakhsha)
At Tue Sep 23, 11:42:00 AM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Emily: Most babies with trisomy 18 can be easily diagnosed in utero because the babies often have very poor growth and multiple abnormalities. The risk for any chromosomal abnormality is doubled in twins unless it is known that the babies came from a single egg. For many different reasons, twins can throw off both the hCG and the PAPP-A results. The 1 in 50 screen positive cutoff is probably what Genzyme use for twins that presimably came from separate eggs. It is higher than what I am used to seeing. I do not think the first trimester risk assessment can be used to predict the results of the second trimester risk assessment in twins because different serum markers are included in the test. If two needle insertions are done to determine fetal chromosomaes in twins at the time of amniocentesis, practically speaking, the 'risk' of the amniocenteis is doubled. Best wishes for the rest of the pregnancy and let us know how things turn out. I am betting right now that the babies are both fine! Dr T
At Tue Sep 23, 11:47:00 AM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Colleen: Odds are that the baby you lost 10 months ago did have a chromosomal abnormality. The risk of amniocentesis is still relatively low compared to your 'age alone risk' foor having a chromosomally abnormal baby. If you are hesitant to simply have an amnio, then have a good 'genetic sonogram' done at 18-20 weeks. If that is completely normal, the risk for a chromosomally abnormal baby is reduced at least 50% (if not 60-80%) and if there are either major abnormalities or 'soft markers' for a chromosomal abnormality, you might feel better about having the amnio at that time. Your age should have little if anything to do with risk related to the amnio. Best wishesand let us know how things turn out! Dr T
At Tue Sep 23, 11:50:00 AM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To anonymous Sept 14: Risks associated with amniocentesis are clearly associated with the skill and experience of the operator. Risks can be as high as 1 in 50 in some general practitioners offices and as low as less than 1 in 5000 in the hands of someone that performs them every day. Good luck and I hope you win the fight with the insurance company! Dr T
At Tue Sep 23, 11:53:00 AM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Tony and Caroline: A completely normal ultrasound at 18-20 weeks can reduce your risk by at least 50% and in many cases as much as 60-80%. The question you have to face is a 1 in 160 to 240 risk good enough for you or do you need to know for sure. That is a decision only the two of you can make. Best wishes and let us know what happens! Dr T
At Tue Sep 23, 11:58:00 AM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Colleen again: You are just so full of excitement, aren't you! A velamentous insertion indicates that the cord is inserted into the membranes around the baby and not directly into the placenta. The site of insertion is connected to the placenta by blood vessels that run through the membranes. Obviously these blood vessels are not very well protected. If the vessels run over or near the internal cervical opeing, it is called a vase previa and that can be very risky to the baby at the time membranes rupture or the cerv ix starts to change - even before the onset of labor. If the vessels are not near the cervix, your greatest risk will be during labor itself. I am sure the doctors there will explain all of this to you. Good luck on the amnio results and let us know how things turn out! Dr T
At Fri Sep 26, 11:05:00 AM 2008, Anonymous said…

Hi Dr. T,
I was told by the genetic conselor that the combined screening tests will have a 92% accuracy. Also she said that in 10 out of 100 cases, these test miss to detect a down syndrom case. Now I have a result of 1/3800 for DS. After the 20 week ultrasound this came down to 1/7600. My question is, how should I evaluate this number if I want to put into account that 10% of the time the test misses. Is it already included?
and does this 10% mean that even with a low risk case like me, there is a 10% chance that I am actually at high risk? I appreciate your response.
From Rachel.
At Sun Sep 28, 10:35:00 AM 2008, justine said…

Mr Trofatter, please can you give me some advice. I am 12wks 5 days pregnant and had the nuchal scan and blood test 3 days ago. The scan part was fine: crown-rump length 60.0mm, NT 1.4mm, and nasal bone present. The blood result was free hcg 1.566mom which I beleive is in the normal range but the PAPP-A 0.305mom which is low.
My age is 40 and I was told my risk before I had any tests was 1:97 but my risk after these tests was now 1:31. They said I can have CVS or amnio or do nothing but have given me no guidance, I would very much value your expert opinion, to help me make the right decisions, should I have the AFP blood test first before deciding on an amnio, and how significant is the low PAPP-A result when everything else is in the normal range? This is my first pregnancy conceived naturally. I live in the U.K. Please help.
At Tue Sep 30, 11:37:00 AM 2008, Anonymous said…

Urgent question. My wife is current 36 and had been through first trimester screening (NT+p-APP, etc) and second trimester quad test (AFP+hcg etc). The data from 1st trimester screening is very good - 1/3500 for downsyndrom and 1/8500 for trisomy 18. However, data from 2nd trimester was very bad - 1/39 for down syndrom and 1/800 for trisomy. We are considering now to do an amnicentesis. Given the situation, what might be factors that cause the conflicts between the data of 1st and 2nd trimester screening?

Some further information.

1st trimester screening was done at 12w5d. Free Beta hCG(MOM)is 0.76 (30%); PAPP-A (MOM) is 0.37 (5%); Delta NT is -0.14; and Nasal Bone is Present.

2nd trimester screening was done at 15.9 week. AFP value is 46; AFP MOM is 1.31. hCG value is 97495; hCG MOM is 2.89. uE3 value is 0.37; uE3 MOM is 0.41. DIA value is 444.54; DIA MOM is 2.23.

Thanks.
At Tue Sep 30, 03:47:00 PM 2008, Anonymous said…

Hi Dr. Trofatter, I am so glad I ran into your site. Your advice seems very thoughtful. I'm 34, and 17.4 weeks pregnant, 1st pregnancy ever, and I have a mild case of Hashimoto's hypothyroidism. I just got back AFP test results that called me "screen negative", but my actual numbers are: 1/10,000 for Trisomy 18 & SOLS, 1/370 for Downs, .76 for Nueral tube def. (if normal is 1..I don't even know what I'm talking about here.) According to the AFP coordinator, I'm a little below the risk for my age for Downs (1/365) and "unlikely" for Neural. But looking at some of the numbers people posted...1/2000 at age 37 for Downs etc, I am now thinking maybe my results aren't that great! Are these women talking about AFP results or some other test? I am also wondering if having a genetic ultrasound for backup checking is sufficient to establish the normal or abnormal status of the baby. I know it's not a diagnostic test, but I was guessing a screen negative AFP plus a good level II U.S. would mean that we had responsibly explored what was going on. However, my husband and I are pretty sure we are not the parents for a mentally retarded child, so maybe there is no escaping the amnio. It's just so expensive, and the ever looming Risk... I'd love some input.
Sarah P. in California
At Thu Oct 02, 03:40:00 PM 2008, claire said…

Dear Dr. Trofatter,

Thanks a lot for this helpful blog and for answering all the questions! I learned a lot.

I am a 35 years old Asian, pregnant with my second child. My first was a healthy and happy girl. I don't drink or smoke or any family history of Downs, and was healthy before being pregnant. Since 6-week of pregnancy, I started getting serious hyperemesis gravidarum and went to Emergency twice for dehydration. I am now on Zofran and got much better.

Today, I got my 13.5 week screening results. NT=3.0mm, crown-rump-length=78mm, hcg=1.5mom, and pappa-a=2.4mom. I was told that my risk for Tr13 and Tr18 are 1/8000, but the risk for Downs is 1/94.

Based on this thread, I'd plan to do a level-2 ultrasound at week 18. If there is anything suspicious, I'd go ahead with the Amnio. If everything looks good, it might reduce my risk to 1/200 - 1/300, and I may decide to skip the Amnio. But, my genetic counselor told me that the risk does not reduce even if the level-2 ultrasound looks completely normal. So I am a little puzzled...

Could my hyperemesis condition during the first trimester cause any of the test results to be higher than normal? Also, since all my three results are higher (while pappa-a would be lower for Downs), I am wondering whether my gestation age could be more than the estimate, which caused higher level of all test results.

Any advice will be greatly appreciated!

Thanks,
Claire
At Sun Oct 05, 05:14:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To anonymous Sept 19: Based on what you have told me, the risk of 1 in 475 is only half your age alone risk! You can have an anio if you want to, but it is usually not recommended under these circumstances. Best wishes and let us know how things turn out! Dr T
At Sun Oct 05, 05:17:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To anonymous Sept 1: Ultrasound becomes less and less accurate with regard to assigning a due date the later in pregnancy it is done. At "32 weeks" your actual due date could be plus or minus 14-21 days! There are other things we can look for to try to pin that down and certain measurements such as the transcerebellar diameter are more accurate than others in helping to determine how far along you are later in pregnancy. Thanks for writing. Dr T
At Sun Oct 05, 05:20:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

Tp Rakhsha: You have a MUCH MUCH greater chance of losing the baby from an amnio than the lieklihood that the baby has Down syndrome. If this will probbaly be your only baby. I would NOT recommend the amnio, but in the end, the final choice is yours because you are the one who must live with the decision! Best wishes. Dr T
At Sun Oct 05, 05:24:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Rachel: With the normal maternal serum screening and the normal ultrasound, the overwhelming odds are that your baby is chromosomally normal - at least from the standpoint of Dpwn syndrome. The risk of an amnio is far greater than the likelihood that your baby has Down syndrome. But, the final choice is yours. Just remember, if you lose the baby from the amnio, the odds are enormous that you will be losing a NORMAL baby, not one with Down syndrome! Best wishes and let us know how things turn out! Dr T
At Sun Oct 05, 05:28:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Justine Sept 28: The low PAPP-A in relation to the modestly elevated hCG and your age are driving your risk to 1 in 31. That is the number you must wrestle with at this point. You should discuss the risks of CVS vs an amnio with the doctor who will be performing the study before you make your final choice about an invasive procedure or simply waiting for midtrimester screening and a 'targeted' ultrasound. These decsions are hard, but in the end, it is entirely yours to make - but it also sounds like you need more information from the doctor before you can make a choice that is right for YOU. Best wishes and good luck! Dr T
At Tue Oct 07, 07:56:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To anonymous Sept 30: Except for the hCG, different serum markers are used in the different screening tests. The first trimester screen also includes other information: the crown rump length, the NT measurement, the presence or absence of a nasal bone. Your wife's risk appears to be driven by the low PAPP-A in first trimester, the high hCG and the low estriol in second trimester as well as the high inhibin-A. Was an "integrated" screening result given to you or simply the different results of the separate tests? Regardless, you now have the 1 in 39 risk for Down syndrome to deal with. Even a normal ultrasound at 18-20 weeks will not reduce that risk to less than 1 in 100. If you need to find out if the baby has Down syndrome, an amniocentesis is the way to do that at this point. Best wishes and let us know how things turn out. Dr T
At Tue Oct 07, 07:59:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Sarah P: The test results are actually very reassuring. Ignore other people's results and think about your own. The overwhelming odds are that your baby does NOT have Down syndrome or trisomy 18. A normal ultrasound at 18-20 weeks will at least halve the risk of Down syndrome and decrease the risk of trisomy 18 by more than 90%. If you lost a baby as the result of an amnio, the odds are that you would be losing a chromosomally NORMAL baby. But, as I always say, the final choice is yours, you alone must live with the result, and we cannot make the decision for you. Best wishes. Dr T
At Tue Oct 07, 08:03:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Claire: The results are a little unusual and I have to wonder if you are correct and the hyperemesis or your medical therapy has affeted the accuracy of the first trimester screen. Regardless, I will respectfully disagree with your genetic counselor. A normal 'targeted' ultrasound should reduce your risk for Down syndrome by at least 50% (if not 60-80%) and your riks for trisomy 18 by more than 90%. Good luck and let us know how things turn out! Dr T
At Sun Oct 12, 08:04:00 PM 2008, Anonymous said…

Dr. Trofatter,
I am 30 years old and having my first baby (a girl, currently 22 weeks along). My integrated screen came back giving me a very low risk (1/10,000) of Downs. In my most recent ultrasound they identified an EIF and mild renal pelvis dialation in both kidneys (5mm). With these two soft markers, the doctor estimated my new risk of having a baby with Downs at 1/50 - 1/100 (based on my age risk of 1/420). Why was the results from the integrated screen discounted with the discovery of the two soft markers? Do you agree that our risk is that greatly increased by these two markers?
Thank you,
MC in FL
At Fri Oct 17, 12:26:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To MC: Your doctor should have used the integrated screen as your a priori risk - it is a much more reliable estimate of risk than that based on age alone - that's why you had it done. Even with those two (very weak) soft markers, your risk should be no more than in in 2-3,000! Best wishes and let us know how things turn out. Dr T
At Sat Oct 18, 02:57:00 PM 2008, Maria said…

Dr. Trofatter,

I am 33 and had great early risk assessment results of 1:8000 for Down Syndrome and 1:10,000 for Trisomy 18. I had a fetal survey ultrasound performed between 17-18 weeks and it was determined that the baby has short long bones. I believe both the humerous and femur. The doctor told me he kept re-measuring to be sure, but it still came up short. I was told my risk increased 10 fold for Down Syndrome to 1:800 and that the risk of miscarrying is 1:600 if I have the amniocentisis performed. I've searched for reassuring information telling me that even normal babies are seen to have short long bones, and have yet to see anything. I do not wish to have the amnio performed due to risk of miscarriage. I guess I have two questions:

1. Is it possible that the ultrasound was performed too early and that a second look in another week or so could change the measurments?

2. Can normal babies really have short long bones? Or does it ALWAYS indicate a problem?

Thank you,
Maria
At Sat Oct 18, 08:52:00 PM 2008, Anonymous said…

Dear Dr. Trofatter,
I'm 41 years old and expecting my first child (IVF). My first trimester screen came back with a 1:295 chance of Down's. My quad test came back with a 1:91 chance of Down's, but my level 2 ultrasound (@ 18 wks) was normal. How do I interpret the combination of all these results. Would you recommend an amnio?
Thanks in advance,
Dr. A
At Sun Oct 19, 02:57:00 PM 2008, Anonymous said…

Hi I just wondered if you could help i'm 33 and 14w pg with my 2nd child I have had 3 m/c and 3 rounds of ivf this baby is naturally conceived. At my combined NT at 13w2d my nt was 3.1mm and my risk was 1:113 for T21 1:89 T13 1:285 T18. The nasal bone was present and the growth was above average.
I have an amnio booked for 16w but i'm so scared of m/c a healthy baby this is a very longed for baby. I'm not sure wether to wait for a detailed u/s then decide or go straight for an amnio.
Any suggestions?
Thanks
At Sun Oct 19, 03:00:00 PM 2008, Anonymous said…

Its anon again 19th Oct they also noted bi lateral dilated pelvis at 4mm
Thanks
At Tue Oct 21, 07:08:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Maria: It depends on how "short" the bones are. If they are just slightly on the small side (say 10th percentile), it could simply be the consequences of your (or your partner's) genetic make-up. With the results of your first trimester screen, the overwhelming odds are still that there is NOT something chromosomally wrong with the baby. Best wishes and let us know how things turn out. Dr T
At Wed Oct 22, 05:02:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Dr A: Was the 1 in 91 risk after the quad screen the result from the quad screen alone or was that an 'integrated screen' that combined the first and second trimester results. Regardless, the normal ultrasound reduces the risk by at least 50% and in some hands, much more than that. The decisions regarding an amnio is ENTIRELY yours - can you live with what may be a 1 in 200 risk (based on the quad screen and the normal ultrasound) without knowing for sure before you deliver or do you want that information now. Best wishes and please let us know how things turn out. Dr T
At Wed Oct 22, 05:06:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To anonymous Oct 19: That is a fairly wide NT measurement and with your composite risk assessment, an amnio would certainly be warranted. I am curious as to the hCG and PAPP-A results from your first trimester screen. Best wishes and let us know how things turn out. Dr T

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