Clinical application of preimplantation genetic diagnosis

Preimplantation genetic diagnosis (PGD) is an early alternative to prenatal diagnosis that is suitable for a small group of patients who are at substantial risk of conceiving a pregnancy affected by a known genetic defect. Four centres are licensed to perform PGD in the UK. This article reviews the clinical experience of PGD at the Guy's and St Thomas' Centre for Preimplantation Genetic Diagnosis, now the busiest unit for PGD in the UK, and compares it with information from other centres in Europe. The results from the first 40 cycles of treatment and the 12 pregnancies arising from those cycles are detailed. It is our belief that PGD should be seen as an extension of a clinical genetic service, rather than an arm of assisted conception. Making the distinction between treatment for infertility and prevention of genetic defect as part of genetic service provision may improve access to health service funding for patients deserving of PGD.