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Family history of disability/Genetic counselling

My partner had two sisters with Rhett syndrome. The syndrome is typically sporadic with a less than 1% chance for the general population but there has been a small link to an inactive gene in mothers that had more than one child with the condition. They’ve offered us genetic counselling to find out if either of us have the mutation on that chromosome. If we do the chances of our child having the syndrome are still relatively small if we don’t they’re the same as any expectant mother. 

We’re sure we will not terminate regardless of what the outcome was due to the limited chance but having to decide if we want to go through the process to find out.

Anyone have any experience of genetic counselling? 

Replies

  • Hiya. 
    I was wondering did you go for genetic counselling and what your experience of it was like. 
    At my 12 week scan my baby had increased NT fluid and I went for the CVS test and it confirmed my baby had Trisomy 18 (Edwards Syndrome)
    At 16 weeks I delivered my wee boy on the 21st May. CVS test shows that it was a sporadic event and not genetic but Im not sure I could go into another pregnancy in the future without genetic counselling to be as sure as I can be. 
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