Researchers Identify Potential Prenatal Biomarkers of Congenital Heart Diseases

(COLUMBUS, Ohio) – Single ventricle heart diseases (SVHDs), the most severe type of congenital heart disease require 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, PhD, 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.”

The current standard of prenatal diagnosis of congenital heart disease in infants occurs at the five-month mark of pregnancy, via ultrasound, when the disease is advanced enough to be visually identified. This process relies on imaging technology and equipment which increase both health care cost and the risk of health care inequity.

Detecting congenital heart diseases in children sooner prenatally would not only give physicians more time to plan treatment, but also lessen the cost burden on families and allow them to explore earlier therapeutic options that could improve survival rates and outcomes for newborns with life-threatening heart conditions.

Pediatric cardiologists Vidu Garg, MD, and Karen Texter, MD in The Heart Center have played significant roles in recruiting patients for this study. The study was supported by the National Institutes of Health, Additional Ventures, American Heart Association, and the Abigail Wexner Research Institute at Nationwide Children’s Hospital.

About The Abigail Wexner Research Institute at Nationwide Children’s Hospital Named to the Top 10 Honor Roll on U.S. News & World Report’s 2024-25 list of “Best Children’s Hospitals,” Nationwide Children’s Hospital is one of America’s largest not-for-profit free-standing pediatric health care systems providing unique expertise in pediatric population health, behavioral health, genomics and health equity as the next frontiers in pediatric medicine, leading to best outcomes for the health of the whole child.  Integrated clinical and research programs are part of what allows Nationwide Children’s to advance its unique model of care. As home to the Department of Pediatrics of The Ohio State University College of Medicine, Nationwide Children’s faculty train the next generation of pediatricians, scientists and pediatric specialists. The Abigail Wexner Research Institute at Nationwide Children’s Hospital is one of the Top 10 National Institutes of Health-funded free-standing pediatric research facilities in the U.S., supporting basic, clinical, translational, behavioral and population health research. The AWRI is comprised of multidisciplinary Centers of Emphasis paired with advanced infrastructure supporting capabilities such as technology commercialization for discoveries; gene- and cell-based therapies; and genome sequencing and analysis. More information is available at NationwideChildrens.org/Research.

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