Prenatal blood test could help detect fetal heart defects

Researchers at Beaumont Hospital, Royal Oak, have discovered a blood test for pregnant women that uses artificial intelligence and genetic-related biomarkers to accurately detect congenital heart defects in the fetus long before birth.

“We know that when congenital heart defects are diagnosed early – ideally before birth – outcomes can improve significantly and mortality and morbidity reduced,” said Dr. Obstetrics and Gynecology, Beaumont Health, and lead author of, “Accurate Prenatal Detection of Fetal Congenital Heart Defects,” which appears in a recent issue of the leading journal, American Journal of Obstetrics and Gynecology.

Dr. Bahado-Singh cautions that larger prospective studies are needed to validate these findings. However, he said this minimally invasive detection method is an important first step in establishing an effective postnatal action plan that quickly puts at-risk infants on track to receive the intensive medical and surgical care needed. they need.

“Once confirmed, these findings could lead to exciting new protocols and, importantly, better outcomes for newborns and their families,” Dr. Bahado-Singh said. “The next steps after a positive test would include performing an echocardiogram before birth and repeated after birth to confirm the presence and nature of a cardiac abnormality.”

Currently, ultrasound imaging of the fetal heart is the only screening tool available for the early (prenatal) detection of congenital heart defects, Dr. Bahado Singh said. Unfortunately, in the United States, only about half of fetal congenital heart disease is identified by prenatal ultrasound. Because of this limitation, screening and monitoring of newborn oxygen levels, via pulse oximetry, is now the standard of care. Unfortunately, pulse oximetry still misses about 10% of critical neonatal heart disease, leading to increased deaths and serious complications.

Birth defects, especially those resulting from heart disease, are a leading cause of infant death. These include a hole in the heart, the most common, and other life-threatening birth defects of the heart that could affect oxygen levels and blood flow at birth; valve and other abnormalities. Smoking, alcohol consumption, environmental toxins, and vitamin deficiencies are all known contributors to the development of congenital heart defects. These agents cause chemical (‘epigenetic’) changes in DNA that can affect the function of genes essential for heart development,” explained Dr Bahado Singh “by turning the genes on or off.”

He continued. “You need a certain set of genes on and others off, for example, to make sure the heart chambers are fully developed. Turning the wrong genes on or off in this normally perfectly orchestrated symphony can cause maldevelopment. leading to major heart defects.

Artificial intelligence analysis of circulating (including fetal) DNA extracted from the mother’s blood, Dr. Bahado-Singh explained, “allows us to efficiently examine billions of potential pieces of information in the genome . This includes early identification of specific predictors of possible fetal heart defect and separation of those that require ongoing monitoring.

Ultimately, Dr. Bahado-Singh would like to see all pregnant women have easy access to screening – through a blood test, which requires no prior appointments or significant absence from work. Those who test positive could then be referred for detailed cardiac, fetal and neonatal ultrasounds and appropriate early intervention as needed.

“We are still a long way from that,” he said. “But it’s exciting to consider the possibilities.”

Reference: Bahado-Singh R, Friedman P, Talbot C, et al. Cell-free DNA in maternal blood and artificial intelligence: accurate prenatal detection of fetal congenital heart defects. Am J Obstet Gynecol. 2022: S0002937822006184. doi:10.1016/j.ajog.2022.07.062

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