Observational analysis reveals nuchal translucency's effectiveness to detect chromosomal abnormalities missed by genome-wide nipt, suggesting measurement thresholds are critical.
(Abstracted from Prenatal Diagn 2025;45:147–154) Genome-wide noninvasive prenatal testing (gwNIPT) analyzes cell-free fetal DNA (cfDNA) in maternal blood for copy number variants larger than 7 Mb. Although used in some clinics, it is not recommended for routine screening due to limited detection rates (DRs), increasing false-positive rates (FPR) with broader panels, and inability to detect microdeletions/microduplications (MDs) or triploidy.
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Han et al. (2025) studied this question.
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