Reply to Anyone on here do ART after finding out DC 1 has a genetic issue that was not passed by your or DH?

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Reply to "Anyone on here do ART after finding out DC 1 has a genetic issue that was not passed by your or DH?"

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[quote=Anonymous]Yes gonadal mosaicism is a possibility for your possible DC2. Our DD1 has Rett Syndrome (RS) 99.5% of the time it is caused by a spontaneous mutation carried by a single sperm and the general population occurrence is 1 in 10,000 to 15,000 live female births (x chromosome linked mutation so only girls have Rett, of course there are a few boys out there too who somehow have it also) The other .5% of the time it is caused by a problem with the Mother's eggs (all or some) or a greater percentage of the Father's sperm carries the mutation, or gonadal mosaicism, I medical terms.  I have since had a healthy DD and we were tested for RS with a sample through the CVS at 11 weeks, got the results back at 12.5 weeks.  We also had a microarray to look for any other possible syndromes or disorders.
Of course you can't test for everything--but it certainly made it a bit easier to go through the pregnancy knowing as much as possible.  While I would have done PGD if we were doing IVF we weren't so I was prepared to make any difficult decisions beforehand concerning what types of results can turn up.

Also highly recommend Dr Kenneth Rosebaum at Children's for a consultation before you decide on trying again.  He is extremely knowledgeable and really cares about his patients.

Good luck to you, for what it's worth I am so glad we decided to go ahead and have another child, it has absolutely been the best thing for our family![/quote]

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