Prenatal Detection of Congenital Heart Defects at the 11‐ to 13‐Week Scan Using a Simple Color Doppler Protocol Including the 4‐Chamber and 3‐Vessel and Trachea Views

Abstract

n the past years, plenty of reports about indirect screening methods for the diagnosis of congenital heart defects were published. They were based on markers of aneuploidy, including nuchal translucency, triuspid regurgitation, and ductus venosus velocimetric parameters. [1][2][3][4] However, the detection rates for congenital heart defects do not exceed 40% for nuchal translucency above the 95th percentile alone and 58% for nuchal translucency above the same limit combined with a reversed or absent a-wave in the ductus venosus flow profile. 1 Objectives-The first goal of this study was to analyze the diagnostic performance of the 4-chamber view, 3-vessel and trachea view, and their combination in color mapping during early cardiac evaluations for selecting cases suspicious of congenital heart defects. The second goal was to describe the most common abnormal flow patterns at the levels of the 4-chamber and 3-vessel and trachea views in the late first trimester.Methods-We conducted a prospective observational study in which a simple cardiac sonographic protocol was applied in fetuses at gestational ages of 11 weeks to 13 weeks 6 days.Results-A total of 1084 patients with known postnatal or autopsy findings were included in the study. The median maternal age was 32.3 years (range, 27-40 years). The median crown-rump length was 62.2 mm (range, 45-84 mm). Overall, there were 35 cases with a confirmed congenital heart defect (3.22%), including 16 accompanied by aneuploidy. We found that our simple first-trimester cardiac protocol was an effective screening method for congenital heart defects. The most effective approach of the 3 evaluated by us was the combined application of the 4-chamber and 3-vessel and trachea views in color mapping compared to the 4-chamber and 3-vessel and trachea views alone. We defined the most common ventricular inflow patterns and the V sign. The technique we used was simple and easy to reproduce.Conclusions-We confirmed that evaluation by two basic cardiac views allows for selection of most cases with a univentricular heart, atrioventricular septal defects, coarctation of the aorta, pulmonary stenosis, pulmonary atresia, and conotruncal defects.

Performance of First‐Trimester Fetal Echocardiography in Diagnosing Fetal Heart Defects: Meta‐analysis and Systematic Review

“…Then 63 full texts were assessed for eligibility. Finally, 18 studies were ultimately included in our meta‐analysis …”

Screening performances of abnormal first-trimester ductus venosus blood flow and increased nuchal translucency thickness in detection of major heart defects

“…A complete study examination included imaging of the four‐chamber wave, left and right outflow tracts noting ‘crossing’ and identification of both the ductal and aortic arches …”

Prenatal Invasive Fetal Karyotyping in the Era of First Trimester Screening And Noninvasive Prenatal Testing (NIPT)

“…While in the last century maternal age was the main indication for invasive testing by AC or CVS in early pregnancies, nowadays women are recommended to have a first trimester screening including NT measurement and detailed ultrasound evaluation of the fetus. Furthermore, early fetal echocardiography and neurosonography may improve the diagnostic results [8,9]. Moreover, it is the intention to counsel patients with respect to possible pregnancy complications such as preeclampsia, intrauterine growth restriction (IUGR) or maternal diabetes mellitus [10].…”