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

D. Costakos, R. K. Abramson, J. G. Edwards, W. B. Rizzo, R. G. Best

Research output: Contribution to journalArticle

16 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)295-300
Number of pages6
JournalAmerican journal of medical genetics
Volume41
Issue number3
DOIs
StatePublished - 1991

Keywords

  • X-linked inheritance
  • adrenoleukodystrophy
  • adrenomyeloneuropathy
  • decision making
  • genetic counseling
  • prenatal diagnosis
  • presymptomatic testing

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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