Hello!
We just got the DNA results from Dr. New’s office and discovered that my husband and I have the exact same mutation! I was wondering if anyone else has the same situation and how it affected fetal testing for CAH (my main concern is an affected child be diagnosed as a carrier because of maternal DNA contamination)
In addition, I was also having some reservations about going on dex when I become pregnant again. I think the risks of taking dex outweigh the chances that we might have an affected girl (I have type 1 diabetes, daughter was born with SWCAH and cleft palate) I’m still wieghing the risks, but has anyone decided not to do the dex and how did you docs respond? (I know all docs are different, but did any make a particularly good arguement for it that changed your mind?) I’d be especially interested in hearing if anyone with type 1 diabetes has tried to do the dex!
And for those who did decide not to do the dex, did you go ahead and do the CVS or did you wait and check the baby’s 17-oph after delevery? I would be tempted to not to have the CVS and have the child tested after it was born (esp. since there are potential problems with genetic testing and I don’t mind waiting to see what we’d end up with!) Just out of curiosity, has anyone had a doc that wanted to do 17-ohp’s on a newborn if they had a sib with CAH, even if genetic results said they were not affected? Seems it would be a good backup in case the genetic results were wrong!
Please don’t think I’m trying forego medical treatments- just trying to weigh the risks and benefits. Goodness knows, everything would be well monitered with the fetal/maternal medicine docs cause of the diabetes- had to get an ultrasound every week in the third trimester last go round!
Advancing thanking for advice!
Martha