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Preimplantation Genetic Diagnosis—An Overview

Caroline Mackie Ogilvie, Peter R. Braude and Paul N. Scriven

Guy's & St Thomas' Centre for PGD, Cytogenetics Department (CMO,PNS), and Assisted Conception Unit (PRB), Guy's & St Thomas' Hospital Trust, London, UK

Correspondence to: Caroline Mackie Ogilvie, Cytogenetics Department, 5th Floor, Guy's Tower, St Thomas St, London SE1 9RT, UK. E-mail: caroline.ogilvie{at}genetics.kcl.ac.uk

Since the early 1990s, preimplantation genetic diagnosis (PGD) has been expanding in scope and applications. Selection of female embryos to avoid X-linked disease was carried out first by polymerase chain reaction, then by fluorescence in situ hybridization (FISH), and an ever-increasing number of tests for monogenic diseases have been developed. Couples with chromosome rearrangements such as Robertsonian and reciprocal translocations form a large referral group for most PGD centers and present a special challenge, due to the large number of genetically unbalanced embryos generated by meiotic segregation. Early protocols used blastomeres biopsied from cleavage-stage embryos; testing of first and second polar bodies is now a routine alternative, and blastocyst biopsy can also be used. More recently, the technology has been harnessed to provide PGD-AS, or aneuploidy screening. FISH probes specific for chromosomes commonly found to be aneuploid in early pregnancy loss are used to test blastomeres for aneuploidy, with the aim of replacing euploid embryos and increasing pregnancy rates in groups of women who have poor IVF success rates. More recent application of PGD to areas such as HLA typing and social sex selection have stoked public controversy and concern, while provoking interesting ethical debates and keeping PGD firmly in the public eye. (J Histochem Cytochem 53:255–260, 2005)

Key Words: preimplantation genetic • diagnosis • aneuploidy screening • sex selection • embryo biopsy • assisted conception • chromosome rearrangements

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