Preimplantation Genetic Diagnosis: An Alternative to Prenatal Diagnosis

摘要

The field of reproductive endocrinology and infertility has been advancing rapidly since its inception. To provide comprehensive care and appropriate referrals, the generalist must have a basic understanding of the technologies available, including indications and limitations. One of the recent and highly publicized advances in the field is preimplantation genetic diagnosis (PGD). This technique has been made possible by advances in genomic sequencing and testing combined with improved in vitro fertilization (IVF) outcomes. At present, when one or both genetic parents carry a gene mutation or a balanced chromosomal rearrangement, PGD can be performed to identify affected embryos. Handyside et al reported the first established pregnancy after preimplantation biopsy and sexing in 1990. Since that time, PGD has become a well-established alternative to prenatal diagnosis. However, there is a significant gap between the obstetrician/gynecologist gener-alist's understanding of the clinical application of this technique and what is typically feasible and successful.