Prenatal Diagnosis of Congenital Heart Disease in Infants

Study Questions:

How well can we diagnose congenital heart defects (CHDs) prenatally in the United States? Are some geographical locales better than others? Which CHDs are more prone to be “missed”?


The Society of Thoracic Surgeons Congenital Heart Surgery Database from 2006-2012 was used to identify all first CHD operations in patients <6 months of age. The prenatal detection rate (PDR) was evaluated according to type of CHD, geographic locale, and presence of associated aneuploidy, syndrome, or extracardiac defects.


The PDR was 43% in approximately 17,000 neonates and 24% in approximately 14,000 infants who met inclusion criteria, with an overall PDR of approximately 34%, which increased from 26% in 2006 to 42% in 2012. The highest PDR was for single-ventricle lesions (hypoplastic left heart syndrome: 67%) and those associated with abnormal four-chamber views, while the lowest was for total anomalous pulmonary venous return (9%). PDR increased in the presence of extracardiac abnormalities. There was geographic variability in PDR, ranging from approximately 24% in the South Central United States (Department of Health and Human Services Region 6) to approximately 46% in the Mid-Atlantic (Region 3).


The authors concluded that PDR varies by CHD type and geographic locale. The majority of patients that require heart surgery in the first 6 months of life elude prenatal detection.


It is fortuitous that the more critical forms of CHD requiring neonatal intervention have a higher PDR, which is not surprising, as single-ventricle defects may be detectable by the four-chamber view. The addition of outflow tract views to basic obstetric (OB) ultrasound screening protocols will likely increase referrals for fetal echocardiography and subsequently improve PDRs, as evidenced by steadily increased trends over time. Low prenatal CHD detection rates and significant geographical variability across the United States suggest that there are opportunities for betterment. Improving OB ultrasound screening skills and increasing access to fetal echocardiography especially in rural areas may help increase PDR for CHD. This may improve patient outcomes in theory, although its true potential impact is not known.

Clinical Topics: Cardiac Surgery, Congenital Heart Disease and Pediatric Cardiology, Heart Failure and Cardiomyopathies, Invasive Cardiovascular Angiography and Intervention, Noninvasive Imaging, Vascular Medicine, Cardiac Surgery and CHD and Pediatrics, Cardiac Surgery and Heart Failure, Congenital Heart Disease, CHD and Pediatrics and Imaging, CHD and Pediatrics and Interventions, Interventions and Imaging, Interventions and Structural Heart Disease, Interventions and Vascular Medicine, Echocardiography/Ultrasound

Keywords: Amyloidosis, Familial, Aneuploidy, Cardiac Surgical Procedures, Diagnostic Imaging, Echocardiography, Genetic Diseases, X-Linked, Heart Defects, Congenital, Hypoplastic Left Heart Syndrome, Infant, Newborn, Pediatrics, Pregnancy, Prenatal Diagnosis, Scimitar Syndrome, Ultrasonography, Prenatal

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