Final Update - Trisomy 13 NIPT
After receiving a positive NIPT for T13, we then had an amnio done around 16 weeks. This came back showing 40% mosaic Trisomy 13. Every scan we had was completely normal as well as our fetal echo. Our baby was born on 9/15. We had her karyotype done and just recently got it back. Her karyotype came back completely NORMAL. When we spoke with a genetic counselor earlier in our pregnancy, she mentioned that very rarely she sees a karyotype come back normal after an amniocentesis result like this. She said it has happened, but usually the percentage of cells affected is lower. If there are any cells in our baby’s body that do have this extra chromosome. It’s somewhere where it has not physically manifested. They also said that her blood karyotype coming back clear was a very good sign.
After talking to every doctor and specialist we have seen and worked with, they all are truly shocked. We truly believe this is a miracle and are grateful to God.
For anyone dealing with this stress, hang in there. This pregnancy was absolute hell and if we had never done the NIPT test, we would never have even known anything was wrong. I know this isn’t the outcome for everyone, but I do believe things like this happen and there is hope!