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

• Published in: BMC pregnancy and childbirth 2019-08, Vol.19 (1), p.274-274, Article 274
• Main Authors: Sánchez-Durán, María Ángeles, Bernabeu García, Andrea, Calero, Inés, Ramis Fossas, Jordi, Illescas, Tamara, Avilés, María Teresa, Maiz, Nerea, Carreras, Elena
• Format: Article
• Language: English
• Subjects: Adult; Cell-free DNA; Cell-Free Nucleic Acids; Chromosomes; Contingent screening; Down syndrome; Down Syndrome - diagnosis; Female; Fetal trisomy; Genetic counseling; Gestational age; Humans; Maternal Serum Screening Tests - methods; Noninvasive Prenatal Testing - methods; Nuchal Translucency Measurement - methods; Obstetrics; Patient Acceptance of Health Care; Performance evaluation; Pilot Projects; Population; Pregnancy; Prenatal Diagnosis - methods; Prenatal screening; Prospective Studies; Risk Assessment; Sensitivity and Specificity; Trisomy 13 Syndrome - diagnosis; Trisomy 18 Syndrome - diagnosis; Womens health
• ISSN: 1471-2393; 1471-2393
• DOI: 10.1186/s12884-019-2434-0

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. 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 (