title: Fragile X syndrome carrier screening in the prenatal genetic counseling setting.
abstract: OBJECTIVE
  To document our experience with fragile X carrier screening.
  
  
  METHODS
  In this study, 29,103 women with no known or suspected family history of fragile X syndrome were offered fragile X carrier screening during their prenatal genetic counseling visit. Screening acceptance was analyzed by referral indication, carrier frequencies documented, and prenatal outcome data presented.
  
  
  RESULTS
  Overall, 7.9% accepted carrier screening. The premutation frequency was 1 in 382, and the intermediate allele frequency was 1 in 143.
  
  
  CONCLUSIONS
  Fragile X screening is a desirable option for some women seeking prenatal genetic counseling and should be made available to this population.
authors.affiliation: Genetic Services and Molecular Diagnostic Laboratory, Genzyme Genetics, Westborough, Massachusetts, USA.
authors.forename: Amy
authors.initials: A
authors.lastname: Cronister
authors.forename: Miriam
authors.initials: M
authors.lastname: DiMaio
authors.forename: Maurice J
authors.initials: MJ
authors.lastname: Mahoney
authors.forename: Alan E
authors.initials: AE
authors.lastname: Donnenfeld
authors.forename: Stephanie
authors.initials: S
authors.lastname: Hallam
mesh_terms: D000367:Age Factors; D015139:Blotting, Southern; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000235:genetics*; D005787:Gene Frequency; D005817:Genetic Counseling; D005820:Genetic Testing / Q000379:methods / Q000523:psychology* / Q000706:statistics & numerical data*; D006801:Humans; D016015:Logistic Models; D018811:Maternal Exposure; D009154:Mutation / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010342:Patient Acceptance of Health Care; D016133:Polymerase Chain Reaction; D016601:RNA-Binding Proteins / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion / Q000235:genetics
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human