Transmission and testing during pregnancy in case of a genetic disorder

Dr Candy KUMPS et Dr Sofie SYMOENS

For all young people with Cutis Laxa, girls or boys, parenthood raises many questions: Can I transmit my disease? How? What are the risks? In the event of pregnancy, can I find out if my future child could be affected? etc.

All these questions and many others are rarely highlighted in multidisciplinary consultations for rare diseases. We were fortunate at this conference to have Dr. Kumps and Dr. Symoens address them clearly. To begin with, they recalled the differences in transmission depending on whether the disease is dominant or recessive. These differences imply a percentage of risk  from simple to double.

They then moved on to the process and procedure of a preimplantation analysis in the event of a known mutation, when future parents wish not to transmit the mutation. It is a process that can last about 5 months with 40% success of a viable pregnancy after implantation of the embryo.