Strategies for preimplantation genetic diagnosis of single gene disorders by DNA amplification

Preimplantation genetic diagnosis (PGD) is an alternative to prenatal diagn osis for ensuring the genetic health of offspring born to families affected by inherited disease. This paper sets out to review current protocols for the diagnosis of single gene defects in human preimplantation embryos. Thes e methods, which depend on DNA amplification using PCR, are subject to a va reity of pitfalls, such as allele dropout (ADO), contamination and reduced amplification efficiency. Advances in single cell DNA amplification, such a s improved multiplex PCR protocols, fluorescent-PCR and whole genome amplif ication (WGA), can be applied to address some of these problems. Different PGD strategies are discussed in the context of their clinical application. Copyright (C) 1998 John Wiley & Sons, Ltd.