title: [The scope of prenatal diagnostic testing for chromosomal aberrations: broad or narrow? Ethical considerations on the choice of tests].
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.
authors.affiliation: Universiteit Maastricht, Faculteit Geneeskunde en Gezondheidswetenschappen, afd. Metamedica, Maastricht, The Netherlands. at.dejong@hes.unimaas.nl
authors.forename: Antina
authors.initials: A
authors.lastname: de Jong
authors.forename: Wybo J
authors.initials: WJ
authors.lastname: Dondorp
authors.forename: Guido M W R
authors.initials: GM
authors.lastname: de Wert
mesh_terms: D000782:Aneuploidy; D002869:Chromosome Aberrations; D025063:Chromosome Disorders / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007621:Karyotyping; D011247:Pregnancy; D011248:Pregnancy Complications / Q000235:genetics; D011296:Prenatal Diagnosis / Q000379:methods*; D012307:Risk Factors