AI-Based Prenatal Blood Test Identifies Dangerous Fetal Heart Defects before Birth

Birth defects, particularly ones that stem from heart disease, are a leading cause of infant mortality. These include a hole in the heart, the most common, and other potentially deadly cardiac birth defect that might affect oxygen levels and blood flow at birth; valve and other abnormalities. Currently, ultrasound which images the fetal heart, is the only available screening tool for early (prenatal) detection of congenital heart defects. Unfortunately, in the U.S., only about half of fetal congenital heart defects are identified on prenatal ultrasound. Because of this limitation, it is now the standard of care to screen and monitor newborn oxygen levels, via pulse oximetry. However, pulse oximetry still misses about 10% of critical newborn heart defects, leading to increased deaths and severe complications. Now, a new blood test for pregnant women uses artificial intelligence (AI) and genetic-related biomarkers to accurately detect, fetal congenital heart defects, well before birth.

Smoking, alcohol use, environmental toxins and vitamin deficiency are all known contributors to the development of congenital heart defects. These agents cause chemical (‘epigenetic’) changes in DNA which can affect the function of genes critical to the development of the heart by turning genes on or off. Researchers at Beaumont Hospital (Southfield, MI, USA) along with colleagues from three other institutions harnessed the power of AI to identify and evaluate fetal DNA that circulates in the mother’s bloodstream. AI analysis of the circulating (including fetal) DNA extracted from the mother’s blood enabled the researchers to efficiently review potentially billions of pieces of information in the genome. This included swiftly identifying specific predictors of a possible fetal heart defect and separating those that need continued monitoring.

The researchers caution that larger, prospective studies are needed to validate these findings. However, 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 attention they need. Ultimately, the researchers would like to see all pregnant women achieve ready access to screening- through a blood test, which requires no advance appointments or significant time off from work. Those who test positive could then be referred for detailed, fetal, and newborn cardiac ultrasounds and appropriate early intervention, as needed.

“Once confirmed, these results could lead to exciting new protocols and, most importantly, improved outcomes for newborns and their families,” said Dr. Ray Bahado-Singh, system chief of Obstetrics and Gynecology, Beaumont Health, and lead author of the study. “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.”

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