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Objective <p>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.</p> Methods <p>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&#xa0;weeks. High-resolution equipment and standardized protocols were used to assess fetal nuchal translucency and cardiac structure.</p> Results <p>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&#xa0;weeks) led to termination, while 63.9% of mid-term detections (18–22&#xa0;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&#xa0;weeks) was associated with a higher rate of pregnancy terminations, while later diagnoses corresponded to higher live birth rates.</p> Conclusion <p>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.</p>

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Diagnosis of major cardiac defects through routine early pregnancy ultrasound examination

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年1月3日

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  • Juixiang Ma,
  • Yan He,
  • Youming Lei,
  • Mingying Yao,
  • Wei Wei

摘要

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.