title: Genetic screening of prospective oocyte donors.
abstract: OBJECTIVE
  To report our experience with genetic screening of oocyte donor candidates and to determine the frequency with which significant genetic issues are identified.
  
  
  METHODS
  Prospective genetic screening of oocyte donor candidates.
  
  
  METHODS
  University hospital oocyte donation program.
  
  
  METHODS
  Women presenting consecutively as volunteer oocyte donors.
  
  
  METHODS
  Genetic screening was performed by pedigree analysis and laboratory studies.
  
  
  METHODS
  Inclusion in the oocyte donor pool based on the results of clinical evaluation and laboratory tests consisting of polymerase chain reaction based mutational analysis for cystic fibrosis carrier status, cytogenetic analysis for karyotype, enzymatic assay for Tay-Sachs disease carrier status, and complete blood count and hemoglobin electrophoresis.
  
  
  RESULTS
  Eight (11%) of 73 oocyte donor candidates were excluded from the donor pool because of a potentially serious genetic finding. Cystic fibrosis mutations were identified in 5 candidates (7%), abnormal karyotypes were found in 2 (3.5%), and an autosomal dominant skeletal dysplasia was identified in 1 (1.4%).
  
  
  CONCLUSIONS
  A significant proportion of women who present as candidates for oocyte donation are inappropriate for donation because of their genetic history or genetic testing results. A thorough genetic evaluation, including a history and laboratory screening, is essential to any oocyte donation program to maximize positive outcomes in pregnancies achieved through assisted means.
authors.affiliation: Human Genetics Program, Department of Pediatrics, New York University School of Medicine, New York, USA. waller01@mcrcr6.med.nyu.edu
authors.forename: R
authors.initials: R
authors.lastname: Wallerstein
authors.forename: V
authors.initials: V
authors.lastname: Jansen
authors.forename: J A
authors.initials: JA
authors.lastname: Grifo
authors.forename: A S
authors.initials: AS
authors.lastname: Berkeley
authors.forename: N
authors.initials: N
authors.lastname: Noyes
authors.forename: J
authors.initials: J
authors.lastname: Licker
authors.forename: F
authors.initials: F
authors.lastname: Licciardi
mesh_terms: D000293:Adolescent; D000328:Adult; D003550:Cystic Fibrosis / Q000235:genetics; D005260:Female; D006580:Genetic Carrier Screening; D005820:Genetic Testing; D006801:Humans; D007621:Karyotyping; D018587:Oocyte Donation; D010009:Osteochondrodysplasias / Q000235:genetics; D012307:Risk Factors