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Preimplantation genetic diagnosis (PGD) is an alternative to prenatal diagnosis 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. These methods, which depend on DNA amplification using PCR, are subject to a variety of pitfalls, such as allele dropout (ADO), contamination and reduced amplification efficiency. Advances in single cell DNA amplification, such as improved multiplex PCR protocols, fluorescent-PCR and whole genome amplification (WGA), can be applied to address some of these problems. Different PGD strategies are discussed in the context of their clinical application.


Journal article


Prenat Diagn

Publication Date





1389 - 1401


DNA Mutational Analysis, Embryonic Development, Female, Genetic Diseases, Inborn, Genetic Markers, Humans, Polymerase Chain Reaction, Pregnancy, Prenatal Diagnosis, Quality Control, Sensitivity and Specificity, Sex Determination Analysis