Early Antenatal Diagnosis of Cardiac Defects Using Transvaginal Doppler Ultrasound: New Perspectives?

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Abstract
Objective: Cardiac defects are the most prevalent congenital anomalies. Screening policies have adopted an 18- to 22-week ultrasound scan to detect such anomalies. However, diagnosis may be feasible early in pregnancy using transvaginal Doppler ultrasound. Methods: Transvaginal ultrasound, including nuchal translucency (NT) measurement, is routinely performed at 10–13 weeks of gestation at our department. Complementary arterial and venous blood flow Doppler evaluation is also performed in cases of increased NT as a part of an ongoing research project. Results: Ultrasound revealed complete atrioventricular septal defects in 2 trisomic fetuses (trisomy 18 and 21) at 12 and 13 weeks of gestation, respectively, with increased NT and abnormal venous blood flow velocity. Conclusions: Incrased NT has been associated with major chromosomal anomalies and is being increasingly related to cardiac defects. Considering that venous blood flow patterns may provide additional clues to the cardiac function, it may be useful as a complementary tool for the earlier diagnosis of structural cardiac anomalies.