Objective
Early detection of major cardiac defects is crucial for the management and prognosis of affected pregnancies. This study evaluated the effectiveness of routine first-trimester ultrasounds in detecting major cardiac defects in singleton pregnancies.
Methods
This retrospective study (2015–2023) at a tertiary center included 35,230 singleton pregnancies undergoing routine ultrasounds at 11–14, 20–24, 28–34, and 34–38 weeks. High-resolution equipment and standardized protocols were used to assess fetal nuchal translucency and cardiac structure.
Results
Among the 35,230 pregnancies studied, 270 cases (0.8%) of major heart defects were identified. Hypoplastic left heart syndrome (HLHS) was detected in 31 cases with a 90% detection rate, while ventricular septal defects (VSD) were the most common, found in 128 cases with a lower detection rate of 16%. Pregnancy outcomes varied significantly with gestational age: 55.9% of early detections (11–13 weeks) led to termination, while 63.9% of mid-term detections (18–22 weeks) resulted in live births. The first-trimester ultrasound scans demonstrated 100% sensitivity and Negative Predictive Value (NPV), with a specificity of 93.85% and a Positive Predictive Value (PPV) of 90.27%. The Kappa value of 0.917 indicated moderate agreement between early and later scans. Notably, early diagnosis (11–13 weeks) was associated with a higher rate of pregnancy terminations, while later diagnoses corresponded to higher live birth rates.
Conclusion
Routine first-trimester ultrasounds effectively detect major cardiac defects early. However, the high sensitivity but low specificity necessitates follow-up scans to confirm findings and reduce false positives, ultimately enhancing prenatal care.
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