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Heritable mutations in the RB1 gene cause an autosomal dominant condition resulting in retinoblastoma1,2 and an increased risk of malignancies including pineoblastoma, neuroblastoma, chondrosarcoma, rhabdomyosarcoma, glioma, leukaemia, sebaceous carcinoma, squamous cell carcinoma and cutaneous melanoma.3–6 Individuals with heritable retinoblastoma can undergo prenatal diagnosis followed by termination to avoid passing on the mutation to the next generation.7 Preimplantation genetic diagnosis (PGD) offers a means of achieving an unaffected pregnancy from the outset. IVF is required for PGD to allow cell biopsy from embryos for genetic testing. Embryos without the germline RB1 mutation are transferred to the mother for implantation and pregnancy.
A 24-year-old woman with bilateral retinoblastoma (RB1, OMIM#180200), had a de novo M708R mutation in RB1 and was referred for …
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