NIPT came positive for microduplication chromosome 12
Hello,
My wife did an extended NIPT test when she was 10 week pregnant, the test came positive for a microduplication in chromosome 12(p13.32q12) which is a pretty big duplication, approximately 35mb.
After receiving this test we freaked out and went to the doctor, the doctor told us that in her experience all of those microduplication came as false positive (doctors here dont prescibe extended NIPT, but the lab did not mentioned that, they sold as a more complete test) and ordered an aminio. We have been waiting for the past month and a half to the exam, Im very very anxious about the situation. We will do the exam in two days, Anyone have experienced a similar situation ? We live in Portugal and the tests here do not provide a PPV value, but from my research I saw more than 90% of these microduplications tend to be false positive, however big duplications tend to be more accurate.
Thanks a lot for your help.