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Beaumont Health says tests using artificial intelligence can identify dangerous fetal heart defects

ROYAL OAK, Mich. – Researchers at Beaumont Hospital in Royal Oak have discovered a blood test for pregnant people that can detect fetal congenital heart defects before the child is born.

The test uses artificial intelligence and genetic-related biomarkers to identify and evaluate fetal DNA that circulates in the pregnant person’s bloodstream and detect heart defects.

“We know that when congenital heart defects are diagnosed early — ideally before birth — outcomes can improve significantly and mortality and morbidity reduced,” said Dr. Ray Bahado-Singh, system chief of 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.

Bahado-Singh said that larger, prospective studies are still needed to validate their findings.

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

Currently, ultrasound images of the fetal heart are the only available screening tool for prenatal detection of congenital heart defects. According to Bahado-Singh, only about half of fetal congenital heart defects are identified on prenatal ultrasound.

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The current standard of care is to screen and monitor newborn oxygen levels via pulse oximetry, which still misses about 10% of critical newborn heart defects.

Birth defects, particularly ones that stem from heart disease, are the leading cause of infant mortality, according to Beaumont Hospital.

Those defects include a hole in the heart and other potentially deadly cardiac birth defects that can impact oxygen levels and blood flow at birth.

“You need a certain group of genes turned on and others turned off, for example, to make sure the chambers of the heart are fully developed. Switching the wrong genes on or off in this normally perfectly orchestrated symphony can cause mal-development leading to major heart defects,” Bahado-Singh said.

Bahado-Singh said artificial intelligence analysis of the DNA extracted from the blood, “enables us to efficiently review potentially billions of pieces of information in the genome. This includes swiftly identifying specific predictors of a possible fetal heart defect and separating those that need continued monitoring.”

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