Chapter 23 – Preimplantation Genetic Diagnosis

Preimplantation genetic diagnosis (PGD) involves the testing of a single or a few cells biopsied from oocytes and/or embryos generated in vitro. As only embryos unaffected for a given genetic condition are transferred to the uterus, prenatal diagnosis and the termination of a pregnancy are avoided. PGD was first performed in 1990, and it is now an established alternative to prenatal diagnosis with expanding uses and a broad range of applications. Continuous technical progress in single cell testing has led to high levels of efficiency and accuracy. The gold standard methods of single cell multiplex-polymerase chain reactions for monogenic diseases and fluorescent in situ hybridization for chromosomal aberrations are being replaced by whole-genome amplification and genome-wide technologies. These generic methods substantially reduce the preclinical workload. Follow-up data from PGD pregnancies, deliveries, and children show an acceptable live birth rate, and so far, no detrimental effects of the procedure have been observed.