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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

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.[1]


  1. Preimplantation genetic diagnosis for retinoblastoma: the first reported liveborn. Xu, K., Rosenwaks, Z., Beaverson, K., Cholst, I., Veeck, L., Abramson, D.H. Am. J. Ophthalmol. (2004) [Pubmed]
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