Advice for high-risk mother-to-be

Hi!
I was in a similar situation a couple years ago. I was pregnant with my son and had an ultrasound at 19 weeks. They found a Choroid Plexus Cyst (CPC) in his brain which although it sounds scary is actually usually harmless and goes away. However it is a slight marker for Down syndrome and other genetic problems so they sent me for a Level 2 hoping to get some reassurance. However, then they found a echogenic foci (bright spot) on his heart and the NT was 6.2mm. The Dr at the Level 2 who was a specialist said it was about 1 in 8 or 9 that my son had a chromosome problem like DS or trisomy 18 or 13. But he did act like he thought there was for sure something wrong with my baby. I went back to my regular OB and he said well 1 in 8...there's problably nothing wrong. He said with Down syndrome I didn't even need a specialist present for delivery or anything like that. Since we had already decided that we didn't want amnio and wouldn't have an abortion we decided that there was no further testing for us to do. One option he did present to us was if we just wanted the amnio for the sake of preparing, we could do it very late, like maybe 34 weeks. The reason for this would be that occassionally amnio causes miscarriage- what really happens is it makes your labor start. Since most amnios are done before 20 weeks, they call it miscarriage. If you wait to have the amnio till later, and it causes your labor to start, you will just be delivering prematurely. We thought about it and by the time I got to 34 weeks I decided I could just wait till he was born. And he was then born by c-section (due to breach presentation) and they could find no health problems of any kind. So in my case it did turn out to be nothing. I am glad I didn't do the amnio, but I'm not saying that's for everyone. But just to encourage you, even with what they saw, your baby may be completely healthy!

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Since more invasive testing can result in miscarriage, if she's not going to go for an abortion- I'd say skip the testing and mentally prepare herself for the special needs child which she may or may not have. That's what I'd do, at least. Especially since the chances are 8/9 that her baby will be normal. No reason to risk a miscarriage for that!

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Amniocentises, which would show with 100% certainty whether the child had Down's or some other chromosonal problem has a miscarriage rate of less than 1%. I would recommend doing that.
My AFP test came back with 1 in 13 chance for Down's. At the level 2 ultrasound they found a bright spot in the heart, which is a "soft marker" for Down's. I had the amnio, and 10 days later I learned that my son was perfectly fine. It saved me a boatload of worry for the remaining 20 or so weeks of my pregnancy.

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Nothing is 100%. Even amniocentises can have inaccurate results.

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Amnio only detects a small number of more common congenital syndromes it can only rule out those few disorders that are included in the test.

No prenatal test can detect all congenital issues.

My first child had a congenital syndrome that was not detected. I chose non-invasive testing for the second pregnancy.

It was frightening and there was a great deal to learn... but I wouldn't trade a moment of it for anything. I adore both my children just as they are.

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I had both the CVS test as well as the amnio done when I was pregnant with my twins. Since I couldn't have the "normal" downs blood test they do with singletons, I had what was called a "nuchal fold" test, which is basically an ultrasound. They found that one baby had a larger nuchal fold and gave me the option of having further more invasive testing done (CVS). We decided to do it. It turns out that he didn't have downs, but he did have a heart defect. I am happy that we did the testing, just because we were prepared for whatever was to happen with my boys.

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After I had my first ultrasound, they called and told me my baby may have Downs Syndrome,(because of a bright spot on his heart) but DON'T WORRY!! And don't look it up on the computer. When someone tells you your baby may not be normal, how could you not worry? I was pretty upset my whole pregnancy. We decided that if I get pregnant again, I will not have an ultrasound. What's the sense of worrying, if you wouldn't want to abort anyway? My son is healthy, by the way.

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Thank you so much for you responses. They have helped me considerably! I'm one of those people who wants to know the answer right away. For example, never tell me you have a surprise for me unless you plan to give it to me right away! Lol! Otherwise it will drive me crazy.

Lisa, I am amazed that with your son having a cyst, echo foci, and a high NT that we were given the same chances. Plus your son ended up being perfectly normal! Maybe most of what these specialists say are based upon opinion rather than so much as what they see. To be given the same chances for down syndrome as a woman where they really could find significant problems, angers me. All my daughter has is a NT on the brink end of normal and a level II bowel density.

I did some research yesterday morning and found out that the bowel being so dense can be caused by the baby swallowing blood. My placenta had detoriated and the specialist mentioned that during the ultrasound. Why did he not tell me that could be a possibility for the bowel? I have no clue, but he insisted is was most likely due to Down's syndrome. I guess the blood can stay in the bowel for 2 months and the placenta detoriated only 2 weeks ago! The specialist said that NT meant nothing without the "bright bowel."

I have decided not to risk the amino test. I have also decided to refuse any more ultrasounds for this pregnancy or another pregnancy like you Amy. Sometimes doctors see what they want to see and over panic.

I have looked at other blogs yesterday and seen so many women who were given 1 3 chances of down syndrome and their babies were fine. Women who were told their babies would have down syndrome and their children were perfectly healthy. I think doctors, especially specialists, are needlessly worrying mothers which increases stress levels and harms the baby.

Thank you all so much for responding and caring!
I cannot tell you how much I appreciate the advice!

Kaley.

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I was in a sort of similar situation almost three years ago. We went in for a routine u/s and they told us our baby had heart defects that were 80% fatal. She would die and we should terminate her. I was spinning from all the news. I agreed to an amnio on the spot because I wasn't going to have an abortion.

The amnio was easier than I had expected - was I in shock? Sure.

Well, Dr. Death as I "lovingly" call him was wrong about the statistics. My daughter is now 2.5 yrs old and THRIVING! She's smart and loving and NEVER sick. Yes, she has heart defects, but she's done amazingly well.

All I can say is follow your heart. If you don't think you should have the procedure, don't bother if it's not going to change the outcome.

Good luck.

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