BTDT Moms - Fragile X and Grey Area/Intermediate

I got my results on Dec 31 and my genetics counselor called and told me that this baby (I am prego with my 3rd) will be fine, but could affect future generations.

What I read was: Intermediate

Your results fall in the range between negative and premutation.

Your baby is not at increased risk for fragile X syndrome.

Future generations may be at risk for fragile X syndrome.

Genetic counseling is recommended.

Then of course I searched more information. It's overwhelming. Then I found these threads on here:

http://www.lifamilies.com/chat/topic.aspx?ID=618578&Highlight=fragile

Which explained it better, especially Kelly9904.

But the more I read and what I keep remembering her saying is, 'When the child is an adult and ready to start a family, it's something to tell them.'

And what Kelly9904 explained is, the mutation stays the same # for a boy, but can change for a girl.

We want to stay

I am supposed to have an aminio on Friday. Will they be able to entirely rule it out, regardless if it a boy or girl?


I did try calling her today, but she will not be in until tomorrow and I just keep thinking about.

Re: BTDT Moms - Fragile X and Grey Area/Intermediate

Do you know your #?

As it was described to me, yes they will be able to tell you from an amnio regardless of gender. My genetic counselor was able to provide me with the % of people who had my #s who had a child with fragile x, which in my case turned out to be no reported cases.

I was told that boys # stay the same generation to generation, yet they are unsure how much, if any the #s will mutate in girls from one generation to the next.

I don't think they will be able to tell you anymore from the amnio except, you baby doesn't have it, although I could be wrong BC we didn't do any additional testing. As far as the future, my gc basically said, if you have a DD when she is starting her family, tell her. If they are doing any kind of genetic work up, they can test and go from there. But there is nothing to be worried about.

We stayed even with the risk.

Re: BTDT Moms - Fragile X and Grey Area/Intermediate

I had genetic testing and genetic counseling prior to getting pregnant with DD #1
I was told I am in the "grey" zone for fragile X
Meaning one of my X genes is duplicated more than the normal amount but not to the point where one of MY children would be affected by the disease if my "bad" gene was passed along to them.
However, I am to tell any of my children when it is time for them to reproduce that there is a potential for their children or childrens children to be affected by Fragile X - therefore they should get genetic testing/counseling done prior to getting pregnant.
I have two girls and and I might have passed my "Bad" X gene on to one or both of them.
Therefore genetic testing when they get married would be beneficial

Re: BTDT Moms - Fragile X and Grey Area/Intermediate

Do you know how many repeat units you have? I don't mean to scare you, but that's a really important thing to know. The higher the number in the gray zone, the more likely it is that expansion will occur based on stability of the gene. that's what it all comes down to, is stability of the gene.

In general, my understanding is the longer the repeat unit is, the more unstable the region of DNA, and the greater the chance for expansion to occur.

There is NO chance in the gray zone to have a full mutation child, but there is a chance for the child to expand into the premutation zone.

I am a fragile x carrier as well, in the premutaion zone, but with my number as high as it is, we were told 99% of the time regardless of sex, that the baby would expand to full mutation.

this site is a good site for information
http://www.fragilex.org/fragile-x-associated-disorders/carriers/

Re: BTDT Moms - Fragile X and Grey Area/Intermediate

Re: BTDT Moms - Fragile X and Grey Area/Intermediate

This is what happened to me:
I tested and it came back grey zone. I was a high risk , going to a very well known and top high risk OB who is also a clinical geneticist.
This was my 3rd pregnancy, 2nd one was a MC at 15 w . They called and told me I was i grey zone, that the dr said it's nothing to worry about , but to talk to my siblings and get them tested too.
While on the phone with them I told them this never came up during my previous pregnancies , I had records of both previous pregnancies at home , both tests said NEGATIVE for fregile x . The nurse who called me was surprised and said that if I'm in grey zone it should have come up in my previous pregnancies too, she had the dr call me that night, he called me at 10 pm, he started telling me how it's nothing to worry about and my child is not at risk of anything, since it's grey zone. But I should notify my siblings. I told him what I told the nurse , that this never came up with my other pregnancies and told him to look at my records, he put me on hold, came back and he said "in that case you should be negative and there must be some kind of mistake, come in tomorrow morning and we will do the test again, in the meantime I am going to call a lab tomorrow and talk to them"
I went in the next morning, the OB called me in his office and told me there was a mix up at the lab and nothing to worry about.
So what I am trying to say is please tell them to look at your other pregnancy records and make sure the test is correct.

Re: BTDT Moms - Fragile X and Grey Area/Intermediate

I am also in the grey area. I had the testing done by an RE (fertility doctor who helped me get pregnant) and she didn't even bother to tell me. It was when I started seeing my OB at 8w pregnant that he told me, and recommended genetic counseling.

I still haven't gotten it and DD is a year and a half old now. I will get it, and will get her tested while she's still young. But while I was pregnant, what was it going to do? They told me DD had exactly 0% chance of being affected from it. So I wasn't going to spend my pregnancy stressing over what may or may not happen when she tries to have her own children 30 years from now. I'll tell her before then and we'll take care of it, but no reason to do it now.

Re: BTDT Moms - Fragile X and Grey Area/Intermediate