Evaluating the role of nuchal translucency in early detection of congenital defects: A systematic review

Abstract

Background: Nuchal translucency (NT) measurement is widely used in prenatal screening to detect chromosomal abnormalities, but its role in identifying congenital defect remains variably reported. Congenital heart disease (CHD) refers to structural malformations of the heart and/or great vessels, which predispose affected individuals to multiple morbidities across their lifespan and contribute to reduced long-term survival.. Although numerous studies have evaluated NT, none have specifically summarized the diagnostic sensitivity and specificity that reflect how well this screening performs when applied independently without adjunctive examinations. To address this gap, this systematic review was conducted to synthesize findings from previous studies and provide evidence-based insights into the diagnostic performance of NT for early detection of CHD. Methods: A systematic review was conducted following PRISMA guidelines. PubMed, Embase, and Web of Science were searched from inception to August 2025 for studies assessing NT measurement in detecting CHDs and other structural anomalies. Eligible studies included prospective or retrospective designs involving pregnant women, with NT assessed at any gestational stage and outcomes confirmed by postnatal examination, autopsy, or detailed follow-up imaging. Data extraction included study characteristics, NT cut-off values, diagnostic accuracy metrics, and risk of bias. Due to heterogeneity in methods and outcomes, findings were synthesized qualitatively. This study was registered prior to the study in PROSPERO CRD420251125707. Results: Twenty studies published between 1999 and 2023 met the inclusion criteria, encompassing diverse populations from Asia, Europe, South America, the Middle East, and Africa. NT cut-off values and measurement protocols varied widely. For CHDs, reported sensitivities ranged from 0.15 to 1.00 and specificities from 0.62 to 0.98, with most studies showing high specificity but variable sensitivity. NT measurement demonstrated higher accuracy for certain complex cardiac anomalies but lower performance for minor defects. For other structural anomalies—including neural tube defects, abdominal wall defects, and skeletal dysplasias—NT measurement showed moderate to high specificity but variable sensitivity, and performance was enhanced when combined with other ultrasound markers or biochemical screening. Risk of bias was generally low to moderate, with variability mainly due to study design and follow-up completeness. Conclusion: NT measurement is a valuable early screening tool for CHDs and other major structural anomalies, particularly when used alongside targeted follow-up imaging. Its high specificity supports its use in risk stratification, but variable sensitivity underscores the need for standardized protocols and integration with complementary screening methods.

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