Preimplantation genetic diagnosis technologies in cystic fibrosis

Diagnosis should be set to all couples requiring preimplantation genetic diagnosis (PGD) for cystic fibrosis (CF). For clinical application, they must be optimized to minimize PCR failure, allelic drop-out (ADO) and contamination, while simultaneously detecting a wide spectrum of CF genotypes. Different PCR configurations were tested, including duplex (IVS8CA/IVS17BTA, DeltaF508/ IVS8CA, or IVS17BTA and D7S486/D7S490), triplexes (F508, IVS8CA and IVS17bCA or I1CA and IVS17bTA) or quadruplex PCR, with co-amplification of intragenic polymorphic markers. Fluorescent or not multiplex PCR protocol allowing any combin…