Concordance Between Obstetric Anatomic Ultrasound and Fetal Echocardiography in Detecting Congenital Heart Disease in High-risk Pregnancies

Abstract

Objectives: To evaluate the concordance between second-trimester anatomic ultrasound and fetal echocardiography in detecting minor and critical congenital heart disease in pregnancies meeting American Heart Association criteria.

Methods: We conducted a retrospective cohort study of pregnancies in which a second-trimester fetal anatomic ultrasound examination (18-26 weeks) and fetal echocardiography were performed between 2012 and 2018 at our institution based on American Heart Association recommendations. Anatomic ultrasound studies were interpreted by maternal-fetal medicine specialists and fetal echocardiographic studies by pediatric cardiologists. Our primary outcome was the proportion of critical congenital heart disease (CCHD) cases not detected by anatomic ultrasound but detected by fetal echocardiography. The secondary outcome was the proportion of total congenital heart disease cases missed by anatomic ultrasound but detected by fetal echocardiography. Neonatal medical records were reviewed for all pregnancies when obtained and available.

Results: Overall, 722 studies met inclusion criteria. Anatomic ultrasound and fetal echocardiography were in agreement in detecting cardiac abnormalities in 681(96.1%) studies (κ = 0.803; P < .001). The most common diagnosis not identified by anatomic ultrasound was a ventricular septal defect, accounting for 9 of 12 (75%) missed congenital heart defects. Of 664 studies with normal cardiac findings on the anatomic ultrasound examinations, no additional instances of CCHD were detected by fetal echocardiography. No unanticipated instances of CCHD were diagnosed postnatally.

Conclusions: With current American Heart Association screening guidelines, automatic fetal echocardiography in the setting of normal detailed anatomic ultrasound findings provided limited benefit in detecting congenital heart defects that would warrant immediate postnatal interventions. More selective use of automatic fetal echocardiography in at-risk pregnancies should be explored.

Keywords: anatomic ultrasound; congenital heart disease; fetal echocardiogram; fetal echocardiography; obstetric ultrasound.