Evaluation of Non-Invasive Prenatal Testing and Early Ultrasound Findings in Fetuses with Raised Nuchal Translucency

Objective: To assess the association between non-invasive prenatal testing (NIPT) results and first-trimester ultrasound findings in pregnancies with increased nuchal translucency (NT) and their ability to predict adverse fetal outcomes. Methodology: A retrospective analytical cohort study was carried out at the Combined Military Hospital (CMH), Kharian, Pakistan, between January 2022 and December 2025. The study included 180 singleton pregnancies showing an NT measurement of 3.0 mm or more on first-trimester ultrasound. Findings from NIPT were compared with ultrasound results and verified through invasive diagnostic procedures or postnatal outcomes. Diagnostic accuracy was assessed by calculating sensitivity, specificity, predictive values, and the area under the ROC curve (AUC). Results: The mean maternal age was 31.2±4.6 years, and the mean gestational age at ultrasound was 12.4±0.6 weeks. Among 180 pregnant women, 54 (30%) had adverse pregnancy outcomes, including chromosomal abnormalities, major structural anomalies, or pregnancy loss. NIPT demonstrated a sensitivity of 95.4%, specificity of 98.6%, and area under the curve (AUC) of 0.97 for detecting aneuploidy. First-trimester ultrasound alone showed an AUC of 0.83, while the combined approach achieved an AUC of 0.99, yielding superior diagnostic accuracy. Conclusion: Increased NT remains a critical early marker of adverse fetal outcomes. NIPT provides excellent detection of common aneuploidies; however, combining it with detailed first-trimester ultrasound significantly enhances diagnostic and prognostic accuracy.