Non‐invasive prenatal testing for everybody or contingent screening?

Key points What's already known about this topic? Non‐invasive prenatal testing (NIPT) for fetal aneuploidies has been quickly implemented worldwide. Different implementation strategies are used for NIPT, either as a first‐tier screening test or as a contingent test after the first‐trimester sc...

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Veröffentlicht in:Prenatal diagnosis 2023-04, Vol.43 (4), p.443-447
Hauptverfasser: Meij, Karuna R. M., Henneman, Lidewij, Sistermans, Erik A.
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creator Meij, Karuna R. M.
Henneman, Lidewij
Sistermans, Erik A.
description Key points What's already known about this topic? Non‐invasive prenatal testing (NIPT) for fetal aneuploidies has been quickly implemented worldwide. Different implementation strategies are used for NIPT, either as a first‐tier screening test or as a contingent test after the first‐trimester screening. What does this study add? We argue that offering NIPT as a first‐tier test has several advantages over contingent NIPT: No time window for testing. Higher sensitivity or detection rate, thus fewer false negatives. More women get a definitive result after a single test, less need for follow‐up tests. Pregnant women prefer first‐tier NIPT.
doi_str_mv 10.1002/pd.6296
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subjects Down Syndrome - diagnosis
Female
Genetic Testing
Humans
Pregnancy
Prenatal Diagnosis
title Non‐invasive prenatal testing for everybody or contingent screening?
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