Monday

genetic testing

Genetic testing during pregnancy sounds like a no-brainer at my age (39) until the date of the procedure approaches. Then it begins to seem a bit scary and invasive... I'm not so sure I want someone poking at my my baby with a needle, you know?

15 comments:

Cathy said...

I skipped the amnio testing.

Katie S said...

I did the amnio with my first child. It was a little scary but once you get the results and dna chart it can give you a big sense of relief. I will have another amnio with my second child in March and I am anxious for those results. I think its completely normal to feel a little uneasy.

Anonymous said...

I think there are good reasons to do an amniocentisis, BUT when I had my 3rd child at 36, I opted out. The reason: because I didn't want to be faced with the decision of what to do if I found out the baby had Down Syndrome. I had a cousin with DS and she was lovely and intelligent, although with the look and health problems which accompany that genetic condition. She responded so well to good parenting and education, and could almost be seen as "not retarded" if she hadn't looked different. I just didn't want that choice. It didn't cause me any more worry than I would normally have had.
My last pregnancy was more than 16 yrs ago, so I'm not sure what other things can be screened for.

MissyT said...

Have you been given the option of nuchal fold testing? It probably wasn't offered when you had your first children.

It uses ultrasound to measure the amount of fluid between two layers of skin behind the baby's neck as those with Down's have a much greater collection of fluid than those who don't. This measurement, along with a corresponding maternal blood test, gives you a risk factor. (For example, you have a 1 in 1000 chance of having a baby with Down's). And then at that point you can decide to go with or cancel the amniocentesis.

nyjlm said...

Nuchal fold measuring is only accurate during a very short window of opportunity. I am not sure if Katie is still in that window (I believe you have to have the u/s for that btwn 10-12 weeks). If that is still an option for you I would make sure to ask about the qualifications of the person performing the u/s.

I spent an agonizing fifteen weeks or so worrying about my baby due to a nuchal translucency measurement done early in pregnancy. I did opt for an amnio, only because I couldn't imagine waiting so many weeks to find out whether or not the baby had down syndrome or not. We did not have any desire to terminate but I could not mentally handle the not-knowing. And even when the amnio came out ok, I waited another few weeks to have an u/s of the heart, since the measurement can also predict heart defects.

I think a large part of the decision needs to rest with a woman's knowledge of her own personality. What sort of affect would a false positive have on you? What are the current rates of miscarriage due to amnio for the physician who would perform the procedure, etc.

It took a long, long time to recover from this scare. Yes, medical advances are great, but I am definitely not a fan of all of the tests they ask women to consent to during pregnancy. In my first I refused the triple-test, and would not have had it in my 2nd pg either. However we had an u/s b/c the dr couldn't get the heart rate at about 10weeks and that is when the tech got the funky measurement.

uhh, think I'm rambling now. My dd is now a super spirited and funky 5 year old, but I still think of the summer of my pregnancy a lot.

Anonymous said...

When I had my last child at 37 I didn't have amnio. The risk of miscarriage due to the amnio is 4 times greater than having a baby with a genetic problem! Since I wasn't going to terminate anyway, I decided to have a level 2 ultrasound combined with some special blood test. (that was in 2005, things might have improved since then).

clara said...

Just about anything serious shows up on u/s. I had an amnio for lung maturity last summer and it went horribly wrong, it was a nightmare! Luckily we were fine, because I was term, but popping that private bubble is not something I`ll do again.

Leslie said...

I don't blame you for being frightened. Is the information worth taking the risks of the procedure? I hope to have another baby, and I'll be 40 or more when I do, and I won't be having any tests done.

Lori B said...

First, don't think of it as "poking a needle at your baby". I had it twice and the ultrasound lets the tech and doctor know exactly where your baby is. It's pretty uneventful. And having the genetic info about your baby is great - regardless of whether you would use it to terminate. If there's some abnormality you can use that info for things other than termination. Good luck and I'm sure it will go well. In fact, I had a friend who was able to have intrauterine surgery on her baby's heart based on genetic testing and ultrasound information - amazing!

mamalife said...

At 37 years of age with a normal level-2 ultrasound I skipped the amnio. I was too afraid of miscarriage for my long-awaited for baby.

honey said...

At 40 I had amnio testing to shut up the naysayers in my life who were making me miserable with predicitons that I would have a birth-defect baby. It seemed every other person I ran into had this negative view.

Except my doctor! He had no worries, and believes that older mothers can be wiser and better parents. And since 97 percent of babies are born to women of all ages without birth defects, there was little reason to think my baby would have any problems.

The amnio predicted a healthy baby, he was born beautiful and perfect, and today at 13 he is brilliant, considerate, and delightful.

Anonymous said...

Katie,
I've never "commented", but here's my two cents to echo lori b since there are so many voices leaning in the no direction--valid, but different from our choices. We had early amnio with both L (I was 30) and R (39) with no problems with the procedure whatsoever. I realize some problems can occur, but ours was accomplished with none and the info made the rest of our pregnancies that much more joyful, but even if something had turned up, I would have wanted to know/be prepared/make decisions, etc.

Good luck with whatever you and Jon decide.

J

Anonymous said...

At age 41, with my fourth child, I opted out of all tests, including the AFP. I did do the nuclal fold testing, and found that to be very helpful. I opted out primarily because I did not want to be faced with a consideration towards abortion because of birth defect. What they can't tell you is how severe the mental disability is, so how one assume the effect on one's family life? Good luck with the test...I hope it goes smoothly as it always does!

Les Jones said...

The risk of spontaneous miscarriage with amnio is what? one in 100? When it was our baby that could have been the one, we opted out. I feel like it's playing Russian roulette with one bullet and a hundred chambers.

Anonymous said...

As the mother of a child w/ a birth defect, the testing was actually a good thing. We would have never terminated the pregnancy; however, the confirmation of the b.d. allowed us to grieve then prepare. I had a very wonderful pregnancy and there were no surprises at birth. He's now a happy, healthy 4 1/2 year old and I wouldn't have changed a thing.