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Amniocentesis is Not Without Risk

Occasionally, a series of comments are left that leave me feeling quite disturbed. Included below is such a series received over the past few weeks, and to which I responded, that tell a story all by themselves. Please read all the way to the end and you will understand why they have been linked together…

• At Wed Jul 16, 04:42:00 PM 2008, anonymous said…

Dear Dr T
Just found this site and took a lot of encouragement from it. I an agonizing over the amniocentesis and have been for the past 4 weeks. I am now week 20 and this is my last chance to have it. My age is 42. I got pregnant very quickly and my (first trimester screening) test results were… overall risk 1/1250 for Down syndrome. I decided not to have amnio based on this and am now so anxious about the prospect of Downs I feel quite ill with the worry. My local hospital claims their amnio miscarriage rate is between 0.5 and 1.0 per cent. I am torn between not getting pregnant again given my age and driving myself ill with stress of not knowing for sure.

Many thanks.

• At Fri Jul 18, 05:23:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To anonymous July 16:
I cannot make the decision for you, but I will tell you four things: 1) You got a GREAT test result for your age; 2) The quoted risk of the amnio at your hospital is 5 to 10 times greater than the chance that this baby has Down syndrome; 3) If you lose the baby as the result of the amnio, odds are you will be losing a NORMAL baby; and 4) If you get pregnant again, the odds are about 20-25 times greater than your current risk that you will have a chromosomally abnormal baby! But, the final choice is yours and you have to live with whatever decision you make, so best wishes!
Dr T

• 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 because 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. recommended I have an amnio. They said my rate of having a baby with Down Syndrome (from my APF testing) was 1 in 2600 - but now because 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 your experience have you seen this echogenic focus and they actully 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, 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 very common and 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 chromosomally 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 which happens to be about 1 in 840! And, when you get pregnant again, the risk will be even higher. But, the final choice is yours. 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 Down Syndrome... I will be 38 when the baby is delivered and am constantly filled with anxiety about 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 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. Your ‘age alone’ risk for Down syndrome in first trimester is 1 in 100 – ten times more than your calculated risk assessment – and that is information based on your pregnancy and not just a whole population of 38 year old women. It is much more reliable than counseling you based on age alone. The 18-20 weeks scan, 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 common chromosomal abnormalities (including Down syndrome) in 72 hours or less. The final choice 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 11, 02:42:00 AM 2008, katja said…

Hi Dr T,
I had an amnio done 3 days ago, the procedure went fine and I'm ok, just some mild cramping. When are you considered to be 'safe' from miscarriage due to the amnio? My doctor said the first 48 hrs are crucial, and then some can have an infection up to a month after the procedure. Does that seem right to you? I read some stories about women losing fluid and having infections even a month later. What are the reasons for that infection? Do the membranes close up themselves or is it possible the hole doesn't close up at all?

Thank you, Kat

• At Sat Jul 12, 08:53:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Kat:
The first 48-72 hours are critical from the standpoint of rupturing membranes following an amnio based on the needle entry alone. We use very thin needles and the hole generally closes up completely within that period of time. But the risk of infection does extend out about a month and that is the most common cause of delayed rupture of membranes. Early delivery is almost inevitable if you do develop an intrauterine infection under those circumstances – no antibiotic regimen will help. Fortunately, infection is remarkably rare following amniocentesis.
Dr T

• At Fri Jul 18, 12:04:00 PM 2008, Chris said…
I had an amniocentesis at 16 weeks. I did not have any real cramping, fever, spotting, leaking of fluid after the amnio. At my 20 weeks ultrasound, I was told the baby had died in utero. The doctors blamed it on the amnio. The amnio showed that there were no chromosomal defects. If I lost the baby due to an infection, wouldn't I have had symptoms.

Also, if the baby hits the side of the needle, could this cause fetal demise and if it could, how long would it take for the fetus to die?

• At Fri Jul 18, 06:48:00 PM 2008, Kenneth F. Trofatter, Jr., MD, PhD said…

To Chris July 18:
I am so sorry for your loss. But others should know that an amniocentesis is a procedure that does carry some risk, and so I hope you don’t mind if I include your comment in a post that addresses this subject.

It is unusual for a baby to die from a needle stick alone. Inadvertent laceration of the umbilical cord would be a more common cause of fetal death. When babies are lost as the result of an infection, I have been truly amazed by how much infection can be 'hidden' inside the uterus without the mother having a fever, pain, or even an abnormal white blood count. Sometimes the only sign is rupture of membranes and uterine cramping. Again, I am so sorry for your loss, but please let us know what you find out. I know it is hard, but thank you for sharing your story. Amniocentesis does carry some risks.
Dr T
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