Implementing genome-wide non-invasive prenatal testing in a national prenatal screening program - PhDData

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Implementing genome-wide non-invasive prenatal testing in a national prenatal screening program

The thesis was published by van der Meij, Karuna Rosa Mariyah, in November 2022, VU University Amsterdam.

Abstract:

The introduction of non-invasive prenatal testing (NIPT) as a screening test for the detection of fetal aneuploidies has transformed prenatal screening worldwide. NIPT is a safe and reliable screening method to detect fetal aneuploidies in maternal blood. In April 2017, first-tier NIPT was implemented in the Netherlands for all pregnant women as part of the TRIDENT-2 study initiated by the Dutch NIPT consortium. This thesis aimed to evaluate the responsible introduction of first-tier NIPT in the Dutch prenatal screening program. The studies in this thesis focus on aspects related to the implementation of NIPT (part I) and the perspectives of pregnant women (part II).



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