Fragile X syndrome: what impact on the course of IVF?

It is a hereditary syndrome: with each generation its form can worsen. It is possible to be a carrier of this disease without experiencing its symptoms. In this case, the syndrome can develop in the children of parents with this disease.

Fragile X syndrome and IVF

If one of the expectant parents is diagnosed with Fragile X syndrome, the Assisted Reproductive technology program may take longer and require more effort on the part of the medical team. In high-risk families, pre-implantation diagnosis is possible. Then, the NSW method is used to examine embryos with abnormalities.

A consultation with a geneticist will also be required before the program begins. The specialist will discuss the possible consequences of the mutation after the embryo transfer. Thus, it is up to the parents to decide whether or not to carry out the transfer. If a mutation is detected in both chromosomes, the transfer is not recommended.

The diagnosis of the syndrome leads to the detection of the disease in the other members of the family. DNA tests will analyze the number of CGG repeats. It is important to know that each individual’s genes are made up of elements called nucleotides. These form chains that repeat (CGGCGG…CGGCGG). In general, the number of these repetitions does not exceed 45. Above 200, we speak of a complete mutation in which the production of the FMRP protein is impossible. This is essential for the proper development of the brain. This results in an intellectual deficiency in people with the syndrome.

If you have been diagnosed with Fragile X syndrome after starting the Assisted Reproductive technology program, our team of experts will make sure to find the solution to complete your program.

Do you have any questions? Contact us for a free consultation.