The diagnostic value of the early extended fetal heart examination at 13 to 14 weeks gestational age in a high-risk population.

BACKGROUND

Congenital heart disease (CHD) is the most common congenital malformation that affects high-risk populations. A more definite heart diagnosis in the first trimester should be provided to guide clinical treatment. The study aim was to evaluate the diagnostic precision of the early extended fetal heart examination (EFHE) that includes abdominal situs view, four-chamber view (4CV), left ventricular outflow tract view (LVOT), right ventricular outflow tract view (RVOT), 3-vessel and tracheal view (3VT), ductal arch view, and the aortic arch view in the detection of CHD at the gestational age (GA) 13 to 14 weeks in a population with high risks.

METHODS

This study was a diagnostic test study. EFHE was performed by transabdominal sonography in women at GA 13 to 14 weeks with singleton pregnancies who were at high risk for CHD. The risk of CHD was determined by family history of CHD, rubella infection, metabolic disorders, exposure to teratogens, conception by in-vitro fertilization (IVF), increased nuchal translucency (NT) thickness, abnormal obstetric ultrasound, etc. The operator had more than 5 years of experience in first-trimester scans and fetal echocardiography. Early scans were compared with a fetal echocardiography in the second trimester (16-24 weeks).

RESULTS

EFHE was performed, and the pregnancy outcomes were obtained in 234 single pregnancies with a high risk of CHD. The average crown-rump length (CRL) was (76.17±7.09) mm. CHD was diagnosed in 43 cases by EFHE; 10 of these cases were misdiagnosed, and 2 cases were missed. Four cases were inconsistent in the main diagnosis of CHD. The sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and kappa coefficient (Ko) value of EFHE in diagnosing CHD by type and severity was 84.6% [95% confidence interval (CI), 69.5-94.1%], 96.9% (95% CI, 93.4-98.9%), 84.6% (95% CI, 69.5-94.1%), 96.9% (95% CI, 93.4-98.9%), and 0.82 (P<0.001), respectively.

CONCLUSIONS

EFHE can work as a diagnose examination for most major CHD cases at GA 13 to 14 weeks by an experienced operator; Therefore, this diagnostic system for fetal CHD may be applied in the first trimester. The study has been registered in the Chinese Clinical Trial Registry (www.chictr.org.cn). The registration number is ChiCTR2000038451.