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Preimplantation genetic diagnosis for retinoblastoma predisposition
  1. Seema Dhanjal1,
  2. Georgia Kakourou1,
  3. Thalia Mamas1,
  4. Natasha Saleh1,
  5. Alpesh Doshi2,
  6. Sarah Gotts2,
  7. Sarah Nuttall2,
  8. Karen Fordham3,
  9. Paul Serhal4,
  10. Joy Delhanty5,
  11. Joyce Harper5,
  12. Sioban SenGupta5
  1. 1UCL Centre for Preimplantation Genetic Diagnosis, Department of Obstetrics and Gynaecology, University College London, UK
  2. 2Assisted Conception Unit, University College Hospital, Eastman Dental Hospital, London, UK
  3. 3UCL Centre for Preimplantation Genetic Diagnosis, Department of Obstetrics and Gynaecology, University College London, UK
  4. 4Assisted Conception Unit, University College Hospital, Eastman Dental Hospital, London, UK
  5. 5UCL Centre for Preimplantation Genetic Diagnosis, Department of Obstetrics and Gynaecology, University College London, UK
  1. Correspondence to: Sioban SenGupta UCL Centre for Preimplantation Genetic Diagnosis, Department of Obstetrics and Gynaecology, University College London, 86–96 Chenies Mews, London WC1E 6HX; s.sengupta{at}ucl.ac.uk

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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.

Case study

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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