[The scope of prenatal diagnostic testing for chromosomal aberrations: broad or narrow? Ethical considerations on the choice of tests]

Ned Tijdschr Geneeskd. 2009:153:A1060.
[Article in Dutch]

Abstract

In the Netherlands prenatal diagnosis after screening for chromosomal abnormalities is done by karyotyping and is restricted to pregnant women with an increased risk of a child with trisomy 21, 18 or 13. However, karyotyping will detect a wider range of chromosomal abnormalities. Replacing karyotyping by rapid aneuploidy diagnosis (RAD) - a test with a more narrow scope - is currently under discussion. A possible drawback of RAD is that some rare but clinically relevant abnormalities may be missed. A possible advantage is that pregnant women will not be confronted with outcomes that the screening was not initially directed at. Each delineation of the scope of prenatal testing implies a normative choice that requires justification. Moral principles can be invoked for both narrowing down and further broadening of the scope of testing.

Publication types

  • English Abstract

MeSH terms

  • Aneuploidy*
  • Chromosome Aberrations*
  • Chromosome Disorders / diagnosis
  • Chromosome Disorders / genetics
  • Female
  • Genetic Testing / methods*
  • Humans
  • Karyotyping
  • Pregnancy
  • Pregnancy Complications / genetics
  • Prenatal Diagnosis / methods*
  • Risk Factors