Copy number variants in fetuses with non-structural ultrasound abnormalities among pregnant women without adverse pregnancy history.

Fetal copy number variants are detected in 4.5% of low-risk pregnancies with non-structural ultrasound abnormalities, with variation across different ultrasound markers.

• Why it matters: Understanding CNV prevalence in pregnancies without adverse history helps improve risk assessment and management for fetuses with ultrasound abnormalities.
• What they did: A prospective study of 426 pregnant women without adverse pregnancy history used chromosomal microarray analysis to detect pathogenic/likely pathogenic CNVs and variants of uncertain significance, analyzing detection rates across ultrasound phenotypes and maternal ages.
• The result: Detection rates of pathogenic CNVs ranged from 3.4% to 33.3% depending on ultrasound markers, with no significant difference between maternal age groups, supporting stratified risk assessment and individualized management.