Improved positive predictive value of non-invasive prenatal testing through integration with second-trimester ultrasound soft markers for fetal chromosomal abnormalities: a retrospective cohort study - Summary - MDSpire
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Improved positive predictive value of non-invasive prenatal testing through integration with second-trimester ultrasound soft markers for fetal chromosomal abnormalities: a retrospective cohort study
To determine whether integrating second-trimester ultrasound soft markers with NIPT improves PPV for fetal chromosomal abnormalities and to characterize aneuploidy-type-specific phenotypic profiles to inform risk stratification.
Key Findings:
24 pregnancies (7.9%) had confirmed chromosomal abnormalities.
NIPT achieved 100% sensitivity and 100% negative predictive value but only 55.8% PPV.
High-risk combined strategy improved PPV to 83.3% with 98.9% specificity.
Women aged <35 years derived the greatest incremental benefit (+28.2 percentage points).
Interpretation:
Limitations:
The study cohort was enriched, which may affect generalizability.
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