Fragile X...Is it something to worry about

Fragile X...Is it something to worry about

Joined: December 28th, 2011, 1:28 pm

December 28th, 2011, 9:53 pm #1

Hello!
My sister had a meeting with her RE today and they mentioned that they were going to run a test to see if she was a carrier of Fragile X Syndrome. This made her really nervous. Is is common for those with high FSH and low AMH to be a carrier?

Thanks!
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b&a72
b&a72

December 28th, 2011, 9:56 pm #2

It is not common and out off all the DOR boards I am apart of there is at best a handful of women who have it.
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Mrs. A
Mrs. A

December 28th, 2011, 10:28 pm #3

Hello!
My sister had a meeting with her RE today and they mentioned that they were going to run a test to see if she was a carrier of Fragile X Syndrome. This made her really nervous. Is is common for those with high FSH and low AMH to be a carrier?

Thanks!
but in my experience I am not sure that it is something to worry about.

http://humrep.oxfordjournals.org/content/16/3/457.full
http://jcem.endojournals.org/content/89/9/4569.full

You can do a search for more information.
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Joined: September 30th, 2011, 8:08 pm

December 28th, 2011, 10:28 pm #4

It is not common and out off all the DOR boards I am apart of there is at best a handful of women who have it.
I agree that it is pretty rare. Just something they test for to be on the safe side. I wouldn't worry too much...I know, easier said than done.
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NancyMN
NancyMN

December 28th, 2011, 11:10 pm #5

Hello!
My sister had a meeting with her RE today and they mentioned that they were going to run a test to see if she was a carrier of Fragile X Syndrome. This made her really nervous. Is is common for those with high FSH and low AMH to be a carrier?

Thanks!
Just got tested, still waiting resultsI was doing some research on this today in fact, and there is some interesting info on the quest site and labcorp site (I found info elsewhere to be a bit more confusing, although the info listed on these sites is still kind of confusing). Apparently 1 in 259 causasion women are carriers (.0038%), and 1 in 813 caucasian males. Of those .0038% women, around 20% will experience POF, which is close to the number listed in one of the links Mrs. A posted (hopefully my math is right!). So its not that common, but I personally thought it would be an interesting fact to know if I am a carrier...

http://www.questdiagnostics.com/hcp/top ... sense.html

https://www.labcorp.com/wps/portal/!ut/ ... er+testing
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Laura
Laura

December 29th, 2011, 5:11 am #6

Hello!
My sister had a meeting with her RE today and they mentioned that they were going to run a test to see if she was a carrier of Fragile X Syndrome. This made her really nervous. Is is common for those with high FSH and low AMH to be a carrier?

Thanks!
Is that while it is not common, IF one does have fragile x than it will likely be the cause of current fertility issues and you can get a referral to an RE to pursue aggressive fertility treatment such as IVF. Otherwise they might try EPP or other "natural" cycles first, since they are cheaper. But in the case of frag x or other genetic condition, they won't "waste time" and instead go straight to IVF.
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Anonymous
Anonymous

December 29th, 2011, 3:45 pm #7

Hello!
My sister had a meeting with her RE today and they mentioned that they were going to run a test to see if she was a carrier of Fragile X Syndrome. This made her really nervous. Is is common for those with high FSH and low AMH to be a carrier?

Thanks!
Egg donors are now routinely screened for this, at good clinics it is required for donors. It can result in retarded male children and females who are carriers.
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Anonymous
Anonymous

January 1st, 2012, 10:59 pm #8

This is really a mis-statement. Yes, it can result in MR or Autism but this depends on your number of mutations and for most people who have no symptoms (other than maybe DOR) they probably will not have a high level of mutations. I am a grayzone carrier of Fragile X. It has likely caused my DOR. About 22 percent of "carriers" experience DOR or POF. I have had extensive genetic counseling with a specialist regarding Fragile X. I have no one (not a single person) in my family who is MR...even though clearly someone in my family besides me carries this gene! My IQ is high enough to qualify for Mensa...and most people in my family are very bright, too. Both of my parents and all of my aunts and uncles have at least a college degree and we even have two doctors among them.

The fact is you have to have a pretty high mutation before your offspring would have a chance of being MR. The geneticist told us that about 1 in 300 people are carriers. Being a carrier simply means that you have an abnormal level of mutations on one of your X's...above 35 mutations on one X is considered a carrier. Above 100 on one X would be considered to have Fragile X. However, only about 1 in 4,000-8,000 have full blown Fragile X. The geneticist did not even recommend genetic testing on our children becaue she said the chances of any sort of major impairment were exceedingly unlikely.

When your sister's test results come back, if she even has it, they will tell her how many mutations she has. I would not worry about it until then.
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