ArticleFrontiers in genetics2026
Concordance between genome-wide cfDNA screening and diagnostic test results for large copy-number variants: a multi-site study from the Global Expanded NIPT Consortium.
Article in Frontiers in genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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15 authors.
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Abstract
Fetal copy-number variants (CNVs) have been associated with a broad range of phenotypes and pregnancy outcomes. Noninvasive prenatal screening using genome-wide cell-free (cf) DNA analysis offers an opportunity to detect fetal CNVs early in pregnancy. This retrospective cohort study evaluated concordance between genome-wide cfDNA screening and diagnostic test results for 276 cases with a single isolated cfDNA-identified CNV ≥7 Mb. Cases for this study were submitted by members of the Global Expanded NIPT Consortium. Eight consortium sites in seven countries contributed cases, with 83% of cases submitted from European sites. Seventy-three of 276 cases (26.5%) had no known high-risk indication for cfDNA screening. Mean and median gestational age at the time of cfDNA blood draw was 13 weeks. A deletion was identified for 124 (44.9%) cases and a duplication for 152 (55.1%) cases. Mean CNV size was 33.4 Mb (median 23.1 Mb, range 7-187 Mb). Diagnostic test results were available for 209/276 cases (75.7%). Concordance between cfDNA screening and diagnostic test results was observed for 49/209 cases (23.4%). Mean and median fetal fraction among concordant cases was 8.8% and 8%, respectively. Among 157 discordant cases, a plausible maternal biological explanation was identified for 21 cases (13.4%). Pregnancy outcome information was limited, but available for 116 (42.0%) cases. Parental testing results were available for 38 (13.8%) cases. For six of 15 concordant cases with parental results, fetal CNVs were secondary to a parental translocation or rearrangement. This study contributes to the growing evidence supporting the use of genome-wide cfDNA screening for detection of large fetal CNVs that could affect the current pregnancy and future reproductive risks as well as identify previously unknown maternal conditions.
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