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Clinical application of a contingent screening strategy for trisomies with cell-free DNA: a pilot study.


ABSTRACT:

Background

Different strategies have been designed for clinical implementation of cell-free DNA (cfDNA) testing. We aimed to evaluate the performance of a contingent strategy based on conventional screening and offering cfDNA to the intermediate-risk group, for the screening for trisomies 21, 18 and 13. Secondary objectives were to assess the uptake of cfDNA in women with intermediate-risk, to evaluate the performance of cfDNA testing, and the preferences of pregnant women with intermediate risk.

Methods

Prospective observational pilot study between February 2016 and March 2017. Singleton pregnancies with a known outcome were included in the study. At the conventional screening (first trimester combined test or second trimester quadruple test) women were classified in high (

SUBMITTER: Sanchez-Duran MA 

PROVIDER: S-EPMC6676567 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature