Researchers have identified a potential biomarker that would identify the presence of single ventricle heart diseases in a fetus based on a maternal blood test.
Summary: Researchers at Nationwide Children’s have identified a potential biomarker, cell-free miRNAs in maternal blood, which could serve as a noninvasive indicator for single ventricle heart diseases in fetuses. This development could allow for earlier diagnosis than the current standard five-month ultrasound, potentially leading to timely interventions that improve newborn outcomes.
Key Takeaways:
- Potential for Earlier Detection: A maternal blood test identifying elevated cell-free miRNAs may help diagnose single ventricle heart diseases earlier in pregnancy.
- Improved Outcomes for Newborns: Early detection would give doctors more time to plan necessary interventions, improving survival and quality of life for affected infants.
- Reducing Health Inequities: This noninvasive method could lower healthcare costs and reduce reliance on costly imaging, promoting equitable access to early diagnosis.
Single ventricle heart diseases, 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 single ventricle heart diseases 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.
Need for Earlier Detection
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 single ventricle heart disease 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, in a release. “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, according to researchers.
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