title: Attitudes toward presymptomatic testing and prenatal diagnosis for adrenoleukodystrophy among affected families.
abstract: One hundred and thirty-six individuals with a family history of X-linked adrenoleukodystrophy (ALD) or adrenomyeloneuropathy (AMN) were given a questionnaire surveying their sociodemographic characteristics, knowledge of X-linked inheritance, and attitudes toward prenatal, presymptomatic, and carrier testing. Of the respondents, 68% indicated that they would use prenatal testing. Of these, 57.1% would terminate a pregnancy of a male fetus hemizygous for the ALD gene and 13.5% would reportedly choose to terminate a heterozygote female fetus. Presymptomatic testing would be used by 88.7% of respondents to test at-risk sons and carrier testing would reportedly be used by 95.4% of respondents to test their at-risk daughters. Respondents correctly answered an average of 61% of the questions testing understanding of X-linked inheritance. This indicates a strong interest in prenatal, presymptomatic, and carrier testing and a need for genetic counselors to provide information about these available tests and X-linked inheritance.
authors.affiliation: University of South Carolina School of Medicine, Columbia.
authors.forename: D
authors.initials: D
authors.lastname: Costakos
authors.forename: R K
authors.initials: RK
authors.lastname: Abramson
authors.forename: J G
authors.initials: JG
authors.lastname: Edwards
authors.forename: W B
authors.initials: WB
authors.lastname: Rizzo
authors.forename: R G
authors.initials: RG
authors.lastname: Best
mesh_terms: D000326:Adrenoleukodystrophy / Q000175:diagnosis*; D001294:Attitude to Health; D005192:Family Health; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D008297:Male; D011296:Prenatal Diagnosis / Q000379:methods*; D011446:Prospective Studies; D012307:Risk Factors; D011795:Surveys and Questionnaires; D014960:X Chromosome