Community› The Bump Message Boards› Pregnant after 35
Pregnant after 35
New Discussion

Just got CVS results...(a little long)

kangaroo35kangaroo35
in Pregnant after 35
As some of you might have seen on an earlier post, my DH and I had kind of a tricky genetic issue.  His sister died of a very rare neurological disease when she was 12 called Batten's disease.  She never learned to walk or talk and suffered from frequent seizures.  RE recommended testing for both of us - disease is autosomal recessive.  DH was found to be a carrier, so they tested me to see if I was a carrier.  Since the risk of me being a carrier was like 1 in 8 million we were told to keep trying to get pg.  Unfortunately, my results came back inconclusive, meaning that I had a mutation on the part of my gene called an intron.  Normally mutations appear on the 'exon' part of your gene. Since this disease is so rare, none of the geneticists had ever seen a baby with an exon + intron mutation so they couldn't rule out baby having batten's if it inherited DH's exon mutation and my intron mutation. Two weeks after getting these results, I had a BFP.  We decided to do CVS as soon as possible.  CVS could at least tell us which, if any, mutations baby inherited.  There was a 25% chance that baby could get intron + exon mutation, in which case, we'd have to decide whether to terminate or cross our fingers for the next 7 mos.  Well, we finally got results this morning and baby did not have either mutation!!! Big Smile so we are over the moon and can't believe our luck.  Baby also tested negative for Down's syndrome and other chromosomal abnormalities.  We got those results last week.  Also, found out that we're having a GIRL. Really wish I could have a drink tonight... Wink
BabyFetus Ticker image
Report Reply to Post

Re: Just got CVS results...(a little long)

This discussion has been closed.
Choose Another Board
Search Boards
"
"