title: Fish based preimplantation genetic diagnosis to prevent DiGeorge syndrome.
abstract: OBJECTIVE
  To report the performance of fluorescence in-situ hybridization in the setting of preimplantation genetic diagnosis in order to diagnose embryos affected by DiGeorge syndrome.
  
  
  METHODS
  Case report.
  
  
  METHODS
  Academic referral center.
  
  
  METHODS
  A 32 year-old female affected by DiGeorge syndrome.
  
  
  METHODS
  History and physical examination, karyotyping, amniocentesis, preimplantation genetic diagnosis, fluorescence in-situ hybridization.
  
  
  METHODS
  Avoidance of pregnancy with embryo affected by DiGeorge syndrome.
  
  
  RESULTS
  Termination of pregnancy with an affected embryo followed by fluorescence in-situ hybridization based preimplantation genetic diagnosis and delivery of healthy offspring.
  
  
  CONCLUSIONS
  The combination of preimplantation genetic diagnosis with fluorescence in-situ hybridization is recommended to prevent pregnancies with DiGeorge syndrome affected embryos in properly selected patients.
authors.affiliation: Petach Tikva Andrology Practice, Petach Tikva, Israel. dr.andrology@gmail.com
authors.forename: Shai
authors.initials: S
authors.lastname: Shefi
authors.forename: Gil
authors.initials: G
authors.lastname: Raviv
authors.forename: Shlomit
authors.initials: S
authors.lastname: Rienstein
authors.forename: Gad
authors.initials: G
authors.lastname: Barkai
authors.forename: Ayala
authors.initials: A
authors.lastname: Aviram-Goldring
authors.forename: Jacob
authors.initials: J
authors.lastname: Levron
mesh_terms: D000328:Adult; D004062:DiGeorge Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000517:prevention & control; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D011247:Pregnancy; D011256:Pregnancy Outcome; D019836:Preimplantation Diagnosis
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