Preimplantation genetic diagnosis for retinoblastoma: the first reported liveborn.

PURPOSE: To develop an accurate mutation analysis procedure for retinoblastoma gene (RB1) mutation, which is sensitive at the single-cell level, and to use in vitro fertilization (IVF) and preimplantation genetic diagnosis (PGD) to achieve pregnancies without retinoblastoma.

DESIGN

Case report.

METHODS

Twelve day 3 embryos, obtained by IVF with intracytoplasmic sperm injection, underwent single-cell DNA testing via polymerase chain reaction and restriction enzyme analysis to detect the presence of a paternal RB1 mutation. Embryos were diagnosed as being unaffected and were transferred to the uterus on day 5.

MAIN OUTCOME MEASURES: Achieving a healthy pregnancy and delivery, assessed by clinical presentation, fundus photography, and RB1 molecular analysis.

RESULTS

A singleton pregnancy was achieved, and a child without retinoblastoma was born. The absence of the paternal RB1 mutation was confirmed on a sample of peripheral blood from the newborn.

CONCLUSIONS

We are first to report a successful human liveborn, delivered after IVF with preimplantation genetic diagnosis for retinoblastoma. The successful result indicates that preimplantation genetic diagnosis exists for this genetic disease and may represent a viable alternative to prenatal diagnosis with the subsequent option of terminating an affected pregnancy.