Summary: A potential biomarker could enable prenatal detection of single ventricle heart disease through a maternal blood test, facilitating earlier diagnosis.
Takeaways:
- The test measures specific cell-free miRNAs in maternal blood, potentially serving as a noninvasive biomarker to detect SVHD in utero.
- Early detection of SVHD could improve treatment planning, reduce costs, and offer families access to early interventions.
- The research, supported by the NIH and the American Heart Association, highlights the potential of this approach but requires further validation for clinical use.
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.
Blood Test for Single Ventricle Heart Disease
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,” says 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.”
Further reading: Prenatal Genetic Screening Won’t Lead to ‘Designer Babies’
Prenatal Diagnosis of Congenital Heart Disease
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.
Featured image: Mingtao Zhao, DVM, PhD, associate professor in the Center for Cardiovascular Research at Nationwide Children’s. Photo: Nationwide Children’s Hospital