At FIVMadrid, after a study and genetic counselling, we recommend a PGD (Pre-implantation genetic diagnosis) of the embryos when there is a definite probability that these embryos would inherit genetic anomalies from parents who are carriers of a hereditary disease.
A PGD involves doing a biopsy of all the embryos for ICSI in order to obtain one cell which can be used to determine whether it is a carrier of the alteration which causes the disease. Molecular probes are used for this. After the diagnosis, the healthy embryos are transferred to the uterus.
PGD is also used to study chromosome anomalies (aneuploidy) in the embryos of women with repeated miscarriages, in women over 40 (age factor) and in cases of repeated implantation failures. The aim is to transfer embryos without chromosome anomalies to the uterus in order to increase pregnancy rates. However, this presumed benefit is not currently supported by evidence-based medicine. Therefore, we do not recommend it at FIVMadrid.