Objective: To establish strategies for the implementation of a successful preimplantation genetic diagnosis (PGD) service.
Design: Retrospective review of data from a single center.
Setting: A United Kingdom National Health Service hospital.
Patient(s): Patients (60 couples) were referred for PGD from UK genetic centers.
Intervention(s): We followed the protocol of ovarian stimulation, oocyte retrieval, fertilization, single cell biopsy on day 3, and embryo transfer on day 4. Pregnancies unaffected by the familial genetic condition.
Result(s): A total of 60 couples was treated for 20 different conditions. Early cycles using nonsequential embryo culture media were less successful (13% pregnancy rate/embryo transfer) than later cycles using sequential media (33.5%). Ninety-four percent of embryos (n = 473) had a single cell removed at biopsy. The overall pregnancy rate was 24% per cycle started, 29% per egg collection, 38% per transfer, and 40% per couple treated. In one cycle, an affected pregnancy followed PGD for spinal muscular atrophy (SMA).
Conclusion(s): The use of sequential media and single cell biopsy results in a successful PGD program with encouraging pregnancy rates.