Preimplantation genetic diagnoi for retinoblatoma: the firt reported liveborn

Purpoe To develop an accurate mutation analyi procedure for retinoblatoma gene (RB1) mutation, which i enitive at the ingle-cell level, and to ue in vitro fertilization (IVF) and preimplantation genetic diagnoi (PGD) to achieve pregnancie without retinoblatoma. Deign Cae report. Method Twelve day 3 embryo, obtained by IVF with intracytoplamic perm injection, underwent ingle-cell DNA teting via polymerae chain reaction and retriction enzyme analyi to detect the preence of a paternal RB1 mutation. Embryo were diagnoed a being unaffected and were tranferred to the uteru on day 5. Main outcome meaure Achieving a healthy pregnancy and delivery, aeed by clinical preentation, fundu photography, and RB1 molecular analyi. Reult A ingleton pregnancy wa achieved, and a child without retinoblatoma wa born. The abence of the paternal RB1 mutation wa confirmed on a ample of peripheral blood from the newborn. Concluion We are firt to report a ucceful human liveborn, delivered after IVF with preimplantation genetic diagnoi for retinoblatoma. The ucceful reult indicate that preimplantation genetic diagnoi exit for thi genetic dieae and may repreent a viable alternative to prenatal diagnoi with the ubequent option of terminating an affected pregnancy.