[The scope of prenatal diagnostic testing for chromosomal aberrations: broad or narrow? Ethical considerations on the choice of tests]
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Updated: Jun 17, 2026

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Antina de Jong1, Wybo J Dondorp, Guido M W R de Wert
1Universiteit Maastricht, Faculteit Geneeskunde en Gezondheidswetenschappen, afd. Metamedica, Maastricht, The Netherlands. at.dejong@hes.unimaas.nl
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.
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