Cystic fibrosis: From prenatal to preimplantation genetic diagnosis

Preimplantation genetic diagnosis (PGD) is an alternative for prenatal diagnosis that makes it possible to perform the diagnosis of a chromosomal or monogenic disorder at the preimplantation embryo level. Cystic fibrosis (CF) is one of the monogenic autosomal recessive diseases requiring prevention programmes and is especially appropriate for couples, so PGD can be performed. CF is characterized by obstruction and chronic infection of the respiratory tract and pancreatic insufficiency. The first PGD for CF was carried out in 1992. The gene was cloned in 1989 and the most frequent mutation was shown to be the del…