Cell-free fetal DNA versus maternal serum screening for trisomy 21 in pregnant women with and without assisted reproduction technology: a prospective interventional study

Genetics in Medicine : Official Journal of the American College of Medical Genetics
Jean-Marc CostaAlexandra Benachi

Abstract

Cell-free DNA (cfDNA) as a primary screening test has been available for years but few studies have addressed this option in a prospective manner. The question is of interest after reports that maternal serum screening (MSS) is less accurate for pregnancies resulting from assisted reproduction technologies (ART) than for spontaneous pregnancies (SP). A prospective interventional study was designed to address the performances of cfDNA compared with MSS in pregnancies with or without ART. Each patient was offered both MSS and cfDNA testing. The primary analysis cohort ultimately included 794 patients with a spontaneous pregnancy (SP) (n = 472) or pregnancy obtained after ART (n = 322). Overall, the false-positive rate and positive predictive value were 6.6% and 8.8% for MSS but 0% and 100% for cfDNA. MSS false-positive rate and positive predictive values were clearly poorer in the ART group (11.7% and 2.6%) than in the SP group (3.2% and 21.1%). The global rates of invasive procedures were 1.9% (15/794) with cfDNA but 8.4% (65/794) if MSS alone was proposed. cfDNA achieved better performance than MSS in both spontaneous and ART pregnancies, thus decreasing the number of invasive procedures. Our findings suggest that cfDNA should ...Continue Reading

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Citations

Jun 19, 2018·Expert Review of Molecular Diagnostics·Elisa BevilacquaJacques C Jani
Aug 31, 2019·Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine·Paolo CavorettoMichael J Seckl
Dec 5, 2018·Journal of Translational Medicine·Yohann DabiAlexandra Benachi
Aug 3, 2020·Best Practice & Research. Clinical Obstetrics & Gynaecology·Dana Kimelman, Mary Ellen Pavone

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Methods Mentioned

BETA
biopsies

Software Mentioned

Cleanweb
Stata
Bowtie

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