I decided to post my experience having a high risk NIPT (non-invasive Prenatal test) test result since I didn’t see many posts on it . At 10 weeks I had the NIPT test and 10 days later found that I was high risk (1/19 chance normally there is a 1/20,000) for cri du chat syndrome which a chromosome deletion. While there is not much information on cri du chat I was told if my daughter had it she would cry like a cat and have disabilities such as maybe never walking or talking and would never be able to live on their own. All of this was very frightening and we had to wait a week to talk to a genetic counselor. Due to the serious of the condition we decided to have a CVS test they also performed a microarray test which apparently shows small chromosome deletions that might not be detected by the normal CVS test. My CVS test came back normal but the sample was small so they had to grow it another two weeks for the microarray test. Finally a month later it came back normal too! We are so relieved. I wanted to post my story in case anyone else has had the same issue and could take some comfort that you may be worrying for nothing. It’s funny with my first daughter , which was only two years ago, I didn’t have any of these tests and never worried. While I think the NIPT test was great at first, I am now mad it caused me so much grief …but grateful everything is okay.
Jamie
Re: High Risk NIPT Test Results- Chromosome Deletion