Contributors: [Sánchez-Durán MA, Bernabeu García A, Calero I, Illescas T, Avilés MT, Maiz N, Carreras E] Servei de Medicina Maternal i Fetal, Hospital Universitari Vall d’Hebron, Barcelona, Spain. Universitat Autònoma de Barcelona, Barcelona, Spain. [Ramis Fossas J] Universitat Autònoma de Barcelona, Barcelona, Spain. Servei de Laboratori, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Vall d'Hebron Barcelona Hospital Campus
نبذة مختصرة : Cell-free DNA; Contingent screening; Fetal trisomy ADN libre de células; Cribado contingente; Trisomia fetal ADN lliure de cèl·lules; Cribratge contingent; Trisomia fetal 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 (risk ≥1:250) or low risk (
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