Preimplantation genetic diagnosis for retinoblastoma: the first reported liveborn
| Autor: | Katherine L. Beaverson, Zev Rosenwaks, Kangpu Xu, David H. Abramson, Lucinda L. Veeck, Ina N. Cholst |
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| Rok vydání: | 2004 |
| Předmět: |
Adult
Male medicine.medical_specialty Pathology Retinal Neoplasms medicine.medical_treatment DNA Mutational Analysis Embryonic Development Prenatal diagnosis Fertilization in Vitro Preimplantation genetic diagnosis Polymerase Chain Reaction Retinoblastoma Protein Intracytoplasmic sperm injection Pregnancy Humans Medicine Genetic Testing Genes Retinoblastoma Preimplantation Diagnosis Genetic testing In vitro fertilisation medicine.diagnostic_test business.industry Obstetrics Retinoblastoma Infant Newborn Pregnancy Outcome DNA Neoplasm Embryo Transfer medicine.disease eye diseases Embryo transfer Ophthalmology Mutation Female business |
| Zdroj: | American Journal of Ophthalmology. 137:18-23 |
| ISSN: | 0002-9394 |
| DOI: | 10.1016/s0002-9394(03)00872-9 |
| Popis: | 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. Conclusion 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. |
| Databáze: | OpenAIRE |
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