title: Preimplantation genetic diagnosis for retinoblastoma: the first reported liveborn.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  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.
  
  
  METHODS
  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.
authors.affiliation: Institute for Reproductive Medicine, New York Presbyterian Hospital-Weill Medical College of Cornell University, New York, New York 10021, USA. Kpxu@med.cornell.edu
authors.forename: Kangpu
authors.initials: K
authors.lastname: Xu
authors.forename: Zev
authors.initials: Z
authors.lastname: Rosenwaks
authors.forename: Katherine
authors.initials: K
authors.lastname: Beaverson
authors.forename: Ina
authors.initials: I
authors.lastname: Cholst
authors.forename: Lucinda
authors.initials: L
authors.lastname: Veeck
authors.forename: David H
authors.initials: DH
authors.lastname: Abramson
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000032:analysis; D004624:Embryo Transfer; D047108:Embryonic Development; D005260:Female; D005307:Fertilization in Vitro; D016161:Genes, Retinoblastoma; D005820:Genetic Testing; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011256:Pregnancy Outcome; D019836:Preimplantation Diagnosis; D019572:Retinal Neoplasms / Q000175:diagnosis* / Q000235:genetics; D012175:Retinoblastoma / Q000175:diagnosis* / Q000235:genetics; D016160:Retinoblastoma Protein / Q000235:genetics*
chemical_list: D004273:DNA, Neoplasm; D016160:Retinoblastoma Protein