title: Update in preimplantation genetic diagnosis: successes, advances, and problems.
abstract: The field of preimplantation genetic diagnosis has undergone significant advances since the report of the first birth from this method in 1990. The first birth in the USA was reported in 1992, as was the first successful diagnosis and delivery of a baby free of a single gene defect disorder (cystic fibrosis and then Tay Sachs). Investigators have now reported approximately 40 births worldwide from preimplantation genetic diagnosis using the polymerase chain reaction and fluorescent in-situ hybridization methods to analyze single cells removed from early cleavage stage preimplantation embryos. The International Working Group on Preimplantation Genetics meets annually to discuss progress and pitfalls in this field. Although preimplantation genetic diagnosis offers hope to patients at risk of transmitting disease, there are many technical hazards of this experimental procedure. Technical difficulties must be overcome in order for preimplantation genetic diagnosis to become a standard clinical tool. This review will highlight some of the recent advances and problems in the field of preimplantation genetic diagnosis.
authors: New York University Medical Center, Division of Reproductive Endocrinology, NY 10016, USA.
authors: J A
authors: JA
authors: Grifo
authors: Y X
authors: YX
authors: Tang
authors: S
authors: S
authors: Munne
authors: L
authors: L
authors: Krey
mesh_terms: D000367:Age Factors; D003951:Diagnostic Errors; D004622:Embryo, Mammalian; D047108:Embryonic Development; D005260:Female; D030342:Genetic Diseases, Inborn / Q000175:diagnosis*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D016133:Polymerase Chain Reaction; D011247:Pregnancy