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Single ventricle heart diseases (SVHDs), the most severe type of congenital heart disease, requires immediate treatment after birth. A growing number of fetal therapies make the benefits of early diagnosis even more important. In a research letter recently published in Circulation Research , researchers at Nationwide Children's describe a potential biomarker that would identify the presence of SVHD in a fetus based on a maternal blood test.

The test measures elevated cell-free miRNAs in the blood of mothers carrying a baby with a single ventricle heart disease. These cell-free miRNAs could eventually be developed as noninvasive biomarkers to detect single ventricle heart diseases sooner prenatally. Approximately 1,000 children are born each year with a single ventricle heart defect, when one lower chamber of the heart is underdeveloped, too small or missing a valve.



While children with SVHDs can survive, their quality of life is impacted due to having only one functional ventricle in their heart. "This technology is in an early phase; preclinical studies and additional clinical validation is needed, but we are encouraged by what this could mean for the evolution of detecting and managing single ventricle heart diseases in children," said Mingtao Zhao, DVM, Ph.D.

, senior author of the study and associate professor in the Center for Cardiovascular Research at Nationwide Children's. "This is a step toward further improved outcomes for newborns with congenital heart diseases." Th.

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