Attitudes toward presymptomatic testing and prenatal diagnosis for adrenoleukodystrophy among affected families

Am J Med Genet. 1991 Dec 1;41(3):295-300. doi: 10.1002/ajmg.1320410307.

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.

MeSH terms

  • Adrenoleukodystrophy / diagnosis*
  • Attitude to Health*
  • Family Health*
  • Female
  • Genetic Carrier Screening / methods*
  • Genetic Linkage / genetics
  • Humans
  • Male
  • Prenatal Diagnosis / methods*
  • Prospective Studies
  • Risk Factors
  • Surveys and Questionnaires
  • X Chromosome