chromosomal disorders other than T21, 13, & 18?

[Anonymous]

I'm AMA (41) and am having a difficult time deciding whether to rely on 1st trimester screening and Maternit21 results or to also have an amnio. My concern is not because I don't trust the Maternit21 results, but rather because that test (and the 1st trimester screening) only looks at trisomies 21, 13, & 18 -- and there are certainly other chromosomal disorders that would be picked up in a standard amnio test (I'm thinking mostly of sex chromosome disorders, but there may be others as well?). I honestly don't know what we would do if any chromosomal disorders were found, regardless of which one(s). With our first DC we skipped all of the screenings (not that Maternit21 existed then) and went straight to the amnio. Ultimately though, I found I was much more nervous about miscarrying from the amnio than I was about the results (everything turned out fine on both accounts).

Anyway, I guess I am now struggling with my desire to know as much as possible versus my fear of a miscarriage from an amnio. I had a miscarriage in between DC1 and this pregnancy, which I'm sure is contributing to the anxiety on both fronts (another miscarriage/possible chromosomal disorders in the miscarriage I had). Anyone else go through this already who might have some advice?

[Anonymous]

I am a couple of years younger than you, but I saw no reason to do the amnio. To me, the Maternit21 was enough. I really did not think that the risks associated with an amnio were justified given the Maternit21 results. The genetic counselor thought my results were very good and didn't see a need to go forward with further testing. I have also had two miscarriages and so really didn't want to increase my chances any further.

[Anonymous]

Who would be doing the amnio? I'm probably at one extreme as far as the need to know goes. I am 38 and skipped the Maternit21 in favor of CVS with a very experienced provider (not in the DC area). I also went straight to CVS at age 36. But I might feel differently if I had a history of miscarriage.

[Anonymous]

It is up to you. I know you are AMA but I had a miscarriage at 30 and we tested the baby and it was a sex chromosome disorder - Turner's Syndrome (only one X). I think that is one of the more "common" chromosomal issues that lead to miscarraige as only 1% make it full term. I am not familiar with an Amnio so I don't know if it would detect this or not. there are other signs from what I hear if the baby makes it through the first trimester which the 20 week scan could detect - heart issues, webbed hands and feet, broad sholders etc. You have to decide what level of comfort you need. I do that the specialist have very high amino success rates but there is always a risk with it.

[Anonymous]

I think this would be a great question for a genetic counselor. I would call at the place where you would get the amnio if you were to do it and ask what else the amnio tests for. Please share any info you might learn.

[Anonymous]

I am 39 and really wanted to know, so I had a CVS. Neither the screening nor the MT21 were really options for me because I am carrying twins. The CVS turned out inconclusive because of the placenta situation, so I also had an amnio. Needless to say, waiting for results caused me a lot of stress, but at least now I know that they are ok. I even had a microarray done to test for some really rare stuff.

I was terrified of a miscarriage (first pregnancy, AMA, got pregnant through IVF), but I knew I needed to know, or else I would go crazy should they find any markers on the anatomy ultrasound.

I will say that if you think that you MIGHT terminate for a serious abnormality, go with a CVS and don't wait for the amnio. I recommend Dr. Pinckert for both procedures, he has a lot of experience and his micarriage rates are a lot lower than what you read on the internet.

As I said, I fretted like crazy over the risk, but my husband, who is the more rational type, just looked at the actual numbers Dr. Pinckert told us, which were really very low, and was not worried at all. So we went for it. The procedures were easy and I had no aftereffects.

[Anonymous]

Talk to your doctor. Do the maternity 21. If your numbers are at risk they will recommend the amnio. The maternity 21 is supposed to take the place of the amnio. I understand your concerns but, don't want you to have tests you don't need. My genetic counselor was great with answering all of our questions and concerns.

[Anonymous]

Anonymous wrote:Talk to your doctor. Do the maternity 21. If your numbers are at risk they will recommend the amnio. The maternity 21 is supposed to take the place of the amnio. I understand your concerns but, don't want you to have tests you don't need. My genetic counselor was great with answering all of our questions and concerns.

MT21 will not replace amnio until it covers the same broad spectrum of disorders.

OP, it's really a matter of how much information and certainty YOU need. Everybody is different in that respect. Nobody can tell you (like PP did) that the amnio is a test "you don't need". If you want more information than those three trisomies, then you need a CVS or an amnio. If you are fine with knowing less, you don't need it. You have make that decision yourself. The risk of the procedures is very low with an experienced provider, certainly lower than having a chromosomal abnormality at your age. But a small risk remains, and if you are not willing to take it, that is also a very reasonable decision.

[Anonymous]

I am also AMA, and I saw a genetic counselor after my first trimester screening. I elected not to do any further testing.

One of the things the counselor explained is that Trisomies 13, 18, and 21 are more common because they are rather short chromosomes,containing less genetic material than the others. Therefore, having an extra copy is not incompatible with life. For most of the other chromosome pairs, an extra copy leads to an early miscarriage.

You may have a different cost benefit analysis, but it was hard for me to get pregnant, and my first trimester screening results were reassuring enough that I elected to skip further testing.

[Anonymous]

I did cvs over M21 because there are trisomies incompatible with life that don't cause the pregnancy to end until after the first trimester. That sounded horrible to me and because I am 40 I didn't feel I had time to waste being pregnant for more months with a pregnancy that wouldn't last.

[Anonymous]

Think long and hard about what you would do with the results and realize that results can be ambiguous. I was 39 and pregnant and was offered additional testing because my cousin has a chromosomal deletion that causes severe mental issues. I agreed to test. The results came back positive but the counselors werent sure how to interpret them. They were sure it meant a higher chance the baby would be affected but had no idea if it was 75% or 25%. It was and still is hell. I was massively depressed and didnt know what to do, ended up terminating. I wish i could have made a different choice, and more than that i wish i hadnt agreed to the additional test.

Sometimes more information just creates more dilemnas.

[Anonymous]

Anonymous wrote:It is up to you. I know you are AMA but I had a miscarriage at 30 and we tested the baby and it was a sex chromosome disorder - Turner's Syndrome (only one X). I think that is one of the more "common" chromosomal issues that lead to miscarraige as only 1% make it full term. I am not familiar with an Amnio so I don't know if it would detect this or not. there are other signs from what I hear if the baby makes it through the first trimester which the 20 week scan could detect - heart issues, webbed hands and feet, broad sholders etc. You have to decide what level of comfort you need. I do that the specialist have very high amino success rates but there is always a risk with it.

An amino would detect Turner Syndrome. With an amniocentesis, the lab looks at all of the chromosomes, so if there is an extra one (any trisomy), or a missing one (like in Turners), or a chunk missing, etc, they can see it.

[Anonymous]

20:20 here. Wanted to add that I dont think I could have made a different choice. Because I had seen firsthand how much my cousin and her family suffered, I wanted to prevent my future child from having the same fate if possible. I just didnt realize there was a possibility for the results to be ambiguous. I also was surprised at how excruciating the decision was for me, given that I thought it would be obvious for me what to do with the results. You just dont know how you will react until you are faced with the decision.

But chances are overwhelming that everything will be fine with your pregnancy. I just want you to go in with as much information as possible if you do choose to test. Talk it through with a counselor ad nauseum, get as much information as you can *beforehand*.

And congratulations! Children are the most amazing thing in this universe.

[Anonymous]

I'm AMA (39) and we've had a couple of miscarriages already. We went for the CVS without question. Our doc told us that T21, 13 and 18 make up 60% of all chromosomal disorders -- for us, knowing about the other 40% was important, esp. given my age. And looking at the stats, it was an easy decision -- the risk of loss from the CVS was a lot lower than the likelihood of a chromosomal abnormality for a woman of my age. And the procedure itself, while not something I'd want to do every day, was really no big deal.

Good luck, OP -- pulling for you!

[Anonymous]

If you're going to do the amnio you should go CVS instead. If you decide to do M21 that should be it apart from a detailed nuchal fold sono at 12 weeks and the regular sono at 20 weeks.