After my D&E on Feb 26th, the doctor ordered DNA testing on the fetus so we could get some answers about why I’ve had three miscarriages. He said the results would come back in two weeks.
Over a month later, I still hadn’t heard anything, so I called the genetic counselor. Another two weeks later, I called again and asked if there was anything I could do to speed things up. She said, “Oh, yes, you could call the doctor who ordered the test.” Now why didn’t she tell me that before???
After that, I got the results within a day. (I gave the nurse an exaggerated sob story about how we needed that data before we could TTC again after our miscarriage. Sue me… I was sick of waiting.)
So the results are: the fetus WAS a carrier of Fragile X, but the mutation hadn’t expanded, so that was NOT the reason the baby died. The real issue was Trisomy 9. From what I can tell from Dr. Google and from the genetic counselor, Trisomy 9 is thought to be completely random, so there isn’t any indication that it will happen again. It is rare and almost always results in first trimester miscarriage.
My RE appears to have been right that while my risk of having a severely affected Fragile X child is small, Fragile X has made my egg quality so poor that my babies are very likely to have OTHER chromosomal issues.
While it’s somewhat comforting that there was a concrete reason for my miscarriage, now I’m scared. What if our next baby has a major chromosomal issue and none of the tests catch it? ❤