12 Years of Preimplantation Genetic Diagnosis

When preimplantation genetic diagnosis (PGD) was introduced in 1990, it was restricted to couples at high risk for having babies with Mendelian disorders. In the early 1990s, fluorescence in situ hybridization with chromosome-specific probes made possible the diagnosis of translocations and aneuploidy (abnormal number of chromosomes). Now, an estimated 1000 PGD babies have been born. These authors present pooled results from 12 years of experience at the three largest PGD centers in the world.

Of 4748 PGD attempts, 469 were performed for detection of translocations, 532 for single-gene disorders, and 3747 for aneuploidy. Overall, 754 babies were born after PGD, with 207 pregnancies ongoing. The rate of pregnancy per embryo transfer was 30.5%…