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28 weeks pregnant, fragile x, mental retardation, ovarian failure, learning disorders. Treatment ?

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Practicing since : 1983
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I've been a nervous wreck lately. I'm 28 weeks pregnant and just found out about a thing called Fragile X.

I wouldn't worry about this except for that the whole reason I got pregnant was because I had high FSH (11) at the age of 29. My doctor never tested me for this or said Fragile X was a cause of early ovarian dysfunction.

Now, as a soon to be single mom, I'm very worried about having a child with Fragile X. On the bright side, there is no family history of mental retardation or learning disorders. Or early ovarian failure.

I have 21 cousins and 10 aunts and uncles, and there has been nothing in the way of these things in the family. No history.

BUT when I was little, many people thought I had autism because I loved routine and was hyperactive. My paternal grandmother also has dementia (quite bad) from her 70s onward. My dad is so far okay, but has a lot of symptoms of OCD.

Anyway, how worried should I be about Fragile X? This is ruining my pregnancy. I want to just get tested but it takes weeks where I live.
Posted Sun, 15 Apr 2012 in Child Health
Answered by Dr. Minoo Bhagia 9 hours later
Hello ,
Thanks for the query

High levels of FSH means poor ovarian reserve but this doesn't happen in each cycle.
There can be carriers in the family not having any symptoms.
The offsprings which are affected more are usually male as they are having one X .
Series of tests are to be done for fragile X to detect the abnormal protein on the gene (FMR1).
These tests are amniocentesis, DNA testing, PCR , karyotyping etc.
I don't think you were having autism as hyperactive is not the only sign to diagnose the autism.
Regarding grandmother's dementia at 70 , could be alzhimer's , think of the common causes first.

They do embryo biopsy through chorionic villi sampling and also see the polar body mutations to find out the autism in early pregnancy
Frankly speaking in your case at the age of 29 , the chances of autism seem very less to me.
FSH levels can be high due to thyroid antibodies also so AMH is a better indicator.
But one can not be sure of everything especially you can not treat the emotional
and behavioural pattern of autism.
If it was a first trimester pregnancy then the things would have been different , I mean one can go for the MTP but at 29 weeks it is very difficult to decide so wait till the reports come.

Hopi I answred your query.
Best wishes
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