Preimplantation genetic haplotyping: 127 diagnostic cycles demonstrating a robust, efficient alternative to direct mutation testing on single cells

 Pamela Renwick is a consultant clinical scientist and is head of the molecular genetic group within the Centre for Preimplantation Genetic Diagnosis at Guy’s and St. Thomas’ Hospital; this service provides preimplantation genetic diagnosis (PGD) for couples at risk of inherited single-gene defects. She introduced the approach of preimplantation genetic haplotyping in 2006 which won the centre a national Hospital Doctor award for innovation. She has recently joined the steering committee of the ESHRE PGD consortium.

PII: S1472-6483(10)00007-6

doi: 10.1016/j.rbmo.2010.01.006