Clinical application of a contingent screening strategy for trisomies with cell-free DNA : a pilot study
Sánchez-Durán, María Ángeles (Universitat Autònoma de Barcelona)
Bernabeu García, Andrea (Universitat Autònoma de Barcelona)
Calero Fernández, Inés (Universitat Autònoma de Barcelona)
Ramis Fossas, Jordi (Universitat Autònoma de Barcelona)
Illescas, Tamara (Ramis Fossas, Jordi)
Avilés García, M. T (Hospital Universitari Vall d'Hebron)
Maiz, Nerea (Hospital Universitari Vall d'Hebron)
Carreras Moratonas, Elena (Universitat Autònoma de Barcelona)

Data:	2019
Resum:	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 (< 1:250). For the study, a contingent strategy was applied: following the conventional screening women were classified into three groups: high risk (risk ≥1:10 or nuchal translucency ≥3 mm), intermediate-risk (risk 1:11 to 1:1500) and low risk (< 1:1500), and a cfDNA test was offered to those at the intermediate risk. For the analysis, 2639 women were included, 2422 (91. 8%) had a first trimester combined test and 217 (8. 2%) a second trimester quadruple test. There were 5 cases of trisomy 21, 4 of trisomy 18 and none of trisomy 13. For the contingent strategy, the detection rate and false positive rates were 88. 9% (8/9) and 1. 3% (35/2630), respectively. For the conventional strategy, the detection rate and false positive rates were 66. 7% (6/9) and 5. 3% (140/2630), respectively. The cfDNA test had a detection rate for trisomy 21 of 100% (3 out of 3), and a false positive rate of 0. 2% (1/466). In a survey, 81. 8% (374/457) of women in the intermediate-risk group would choose cfDNA testing as the second line test, mainly due to the lack of risk for the fetus. A contingent screening strategy for trisomies 21, 18 and 13, based on conventional screening, and offering a cfDNA test to women with a risk between 1:11 to 1:1500, reduced the false positive rate and increased the detection rate for these trisomies. Moreover, this strategy is well accepted by women. The online version of this article (10. 1186/s12884-019-2434-0) contains supplementary material, which is available to authorized users.
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Matèria:	Cell-free DNA ; Contingent screening ; Fetal trisomy ; Prenatal screening
Publicat a:	BMC pregnancy and childbirth, Vol. 19 (august 2019) , ISSN 1471-2393

DOI: 10.1186/s12884-019-2434-0
PMID: 31370808

7 p, 844.5 KB

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