Patient's question:
My wife and I might have one of us with a problem in chromosome 9. Over two years ago, our first child was born with a microdeletion, and the hospital said it was a mutation and didn't take it seriously. Now I am pregnant with our second child, at 23 weeks. Amniocentesis revealed a microduplication. However, the report from BGI microarray indicated that there are no precedents in the database. Only microdeletion cases are recorded, not microduplication cases. Our first child has a microdeletion in chromosome 9, with a prevalence rate of 1 in 200,000. Currently, our first child is lagging behind in both intellectual and physical development. The hospital explained at the time that it was very likely just a genetic mutation. Our second child is now at 23 weeks of pregnancy and has been found to have a microduplication in chromosome 9. Due to the precedent with our first child, we are now at a loss as to what to do. Are there any precedents of babies with microduplication in chromosome 9? What is the current condition of these babies?Doctor's answer:
Regardless of which chromosome translocation you have, you can undergo IVF. However, IVF cannot solve the problems of miscarriage, stillbirth, or unhealthy fetuses caused by chromosome translocations. If you want a completely healthy child, you can only choose IVF with preimplantation genetic diagnosis (PGD). If one of the partners has a 9 chromosome inversion that matches the fetus, there is no major issue. If not, the problem depends on the specific inversion segment. Most 9 chromosome inversions are normal variations—wait for the final results!