ArticleArchives of gynecology and obstetrics2026
Residual risk of clinically significant copy number variations in fetuses with ultrasonographic soft markers following exclusion of non-invasive prenatal screening-detectable findings.
Article in Archives of gynecology and obstetrics, 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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Who cites it
1 citing paper in PubMed.
- Fetal Copy Number Variant Detection in Pregnancies with Ultrasound Soft Markers: A Maternal Age-Stratified Retrospective Study.International journal of general medicine · 2026Article
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12 authors.
Funding
Abstract
objectiveTo evaluate the residual risk of clinically significant copy number variations (CNVs) in fetuses with ultrasonographic soft markers by its various types after excluding theoretically non-invasive prenatal screening (NIPS)-detectable abnormalities.
methodsThis study included 2005 fetuses with soft markers undergoing chromosomal microarray analysis (CMA) between 2015 and 2024. Theoretically NIPS-detectable findings were categorized into three subgroups: 3-chromosome NIPS, 5-chromosome NIPS, and genome-wide NIPS. The residual risk was calculated and compared with a low-risk control cohort. We further assessed their clinical outcomes.
resultsThe overall diagnostic yield of clinically significant CMA findings in fetuses with soft markers was 6.38%. Overall, the residual risk was 4.67% for 3-chromosome NIPS, 4.19% for 5-chromosome NIPS, and 3.25% for genome-wide NIPS. Except for isolated single umbilical artery (genome-wide NIPS), echogenic intracardiac focus, and aberrant right subclavian artery (all NIPS models), the residual risk was significantly higher for most soft marker types when compared with the control cohort. Among fetuses with normal CMA results and successful follow-up, a significantly lower rate of normal infant was identified in fetuses with four types of soft markers (mild ventriculomegaly, echogenic bowel, short femur length, and mild pyelectasis) compared with the control cohort.
conclusionThe residual risk in fetuses with multiple soft markers and most isolated soft markers (absent or hypoplastic nasal bone, mild ventriculomegaly, thickened nuchal fold, echogenic bowel, short femur length, mild pyelectasis, and choroid plexus cysts) was higher than that in low-risk pregnancies. CNV analysis is recommended for such fetuses, regardless of whether NIPS has been performed previously.
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