A new study published today indicates that combining color Doppler with a new intelligent navigation echocardiography technology developed at the National Institutes of Health’s Perinatology Research Branch at Wayne State University provides improved accuracy in prenatal detection of congenital heart disease, the leading cause of infant mortality due to congenital anomalies.

Congenital heart disease affects nearly 1 percent – approximately 40,000 cases per year – of births in the United States alone, according to the U.S. Centers for Disease Control and Prevention.

The condition gained widespread attention in April when Jimmy Kimmel, host of ABC’s “Jimmy Kimmel Live!” made public the plight of his son, William, in reaction to the U.S. Senate’s debate over repealing the Patient Protection and Affordable Care Act. William was born April 21 with a rare congenital heart defect known as tetralogy of Fallot with pulmonary atresia. The condition was not diagnosed before his birth. He underwent successful heart surgery three days after he was born.

The prenatal detection of congenital heart disease is inadequate, with approximately one-half of all congenital heart anomalies going undiagnosed until after birth. The limited success in detection of congenital heart disease before birth is due to the complex anatomy of the fetal heart, its small size and its motion.

But the exciting new findings published online Aug. 15 by Ultrasound in Obstetrics and Gynecology describes the success of new technology to vastly improve the detection of heart abnormalities of infants still in the womb.

The study, “Color and power Doppler combined with fetal intelligent navigation echocardiography (FINE) to evaluate the fetal heart,” was conducted by Roberto Romero, M.D., chief of the Perinatology Research Branch of the Eunice Kennedy Shriver National Institute of Child Health and Human Development, and professor of Molecular Obstetrics and Genetics for the Wayne State University School of Medicine, and Lame Yeo, M.D., professor of Obstetrics and Gynecology for the WSU School of Medicine, and director of Fetal Cardiology for the PRB.

Fetal Intelligent Navigation Echocardiography, or FINE, was invented at the PRB. FINE is used to screen for congenital heart disease. Invented by scientists of the National Institute of Child and Health Development’s Perinatology Research Branch and the Wayne State University School of Medicine, FINE provides the semiautomatic display of nine anatomical planes to screen for prenatal congenital heart disease.

Drs. Romero and Yeo wanted to evaluate the diagnostic potential of combining FINE with bidirectional color Doppler ultrasound in examining the fetal heart. The study suggests that the combined technologies provides a reliable and informative method to examine both the normal and abnormal fetal heart.

“Not only did the FINE method combined with color and bidirectional Doppler provide clinically useful information about cardiac structure and function in fetuses with normal hearts, it depicted in cases of congenital heart disease abnormal cardiac anatomy and hemodynamic flow characteristics,” said Dr. Romero, who also serves as deputy clinical director for Obstetrics and Maternal-Fetal Medicine, Intramural Division, NICHD, National Institutes of Health and Department of Health and Human Service, as well as editor-in-chief for Obstetrics for the American Journal of Obstetrics and Gynecology.

Color Doppler mapping is the real-time display of two-dimensional flow patterns superimposed on cross-sectional pulse echo images of anatomical structures. The technology is an integral component of fetal cardiac examination because it allows identification of cardiac structures and vasculature. FINE automatically generates and displays fetal echocardiography views of the heart by applying “intelligent navigation” technology to datasets acquired during the examination.

Other benefits of the combined technology include:

• Providing the depiction of cardiac structures that were not apparent on grayscale Doppler.
• Improved accuracy and prenatal detection of congenital heart disease, especially with complex cardiac defects.
• The reduction of false-positive diagnoses.
• In cases of congenital heart disease, it corroborates the anatomical diagnosis and defines both normal and abnormal blood flow.
• The FINE navigation technology reduced dependency on operator, or manual navigation of equipment.
• Standardization and simplification of the examination.
• Nine echocardiography views are generated simultaneously in a single template, including both transverse and longitudinal planes. This is particularly helpful in cases of congenital heart disease, and for educational purposes.
• Automatic labeling of anatomical structures and echocardiography views via FINE.

The study authors recommended future studies are required to further validate the diagnostic utility of the new technology.