Hi Dina,

I have 4 boys. My youngest two (same dad) have SVCAH.  After my third son, (1st with CAH) was born, we had his DNA, my husbands and mine done.  We did it because I wanted to verify that he had CAH because he was diagnosed through newborn screen and didn’t start meds until 30 days...never having had any problems.  The DNA came back showing that I had a SV gene and my husband had a SW gene and my little one got both, so he had SV CAH (in genetics the least severe is dominant) So, when I got pregnant for the 4th time, I started taking the dex as soon as the pregnancy test confirmed a pregnancy. I had a CVS at 10 weeks along with a FISH test that showed the sex within 24 hours.  The next day, I found out I was carrying a boy so I stopped the dex because obviously if he did have CAH the dex wasn’t necessary. A  few weeks later we got the results from Cornell that he did have the same mutations as his brother. So basically, they used my 3rd son’s DNA results to look for my 4th babies DNA. Our DNA results were just confirmation.

If you had a CVS, they should have done a FISH test to test for the sex of the baby so you could have stopped the next day after your CVS if it were a boy. Secondly, the CVS usually is done for chromosome analysis and they have to grow the sample that is then sent to the lab that does the testing for CAH.   Sometimes that lab has to hold onto it for  while to let it grow more because it may have not been a good sample.  I would check with your doctor to find out if they did a FISH test and if you had DNA done on your first child, have them use that info.

Sandra