Preimplantation genetic diagnosis and assisted reproduction

摘要

Preimplantation genetic diagnosis is an exciting technology that offers selected couples an alternative to pregnancy termination of an affected fetus. The field is rapidly advancing, with improvements in accuracy, efficiency, and availability. Even with these improvements, however, misdiagnosis still can occur. Efficiency is less than 100%, and the procedures are labor intensive and costly. In the next few years, PGD will be able to screen each human embryo for all numerical chromosomal abnormalities and many genetic diseases. PGD is already a viable option for patients with monogenic diseases and chromosomal translocations. Further studies are required to demonstrate whether patients with repeated IVF failures, recurrent pregnancy loss, and advanced maternal age could benefit from routine application of PGD. Finally, PGD offers the promise of becoming an important tool in clinical IVF to select for transfer of a single embryo with the greatest developmental potential, thereby maximizing pregnancy outcomes and reducing the risk of multiple gestation.