The blood test uses artificial intelligence and biomarkers to prenatally detect congenital heart defects in the fetus

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 a fetus, long before birth.

Dr. Ray Bahadu Singh, chief of Obstetrics & Gynecology, Beaumont Health, and lead author of, “Accurate Prenatal Detection of Fetal Congenital Heart Defects,” which appeared in a recent issue of the leading journal, The American Journal of Obstetrics and Gynecology.

Bhadu Singh and his team from Beaumont and researchers from three other institutions have harnessed the power of artificial intelligence to identify and evaluate fetal DNA circulating in the mother’s bloodstream.

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

Once confirmed, these results could lead to exciting new protocols and, most importantly, improved outcomes for newborns and their families. Next steps after a positive test include performing a prenatal echocardiogram and repeating it after birth to confirm the presence and nature of a heart defect.”

Dr.. Rai Bhadu Singh, Head of the Obstetrics and Gynecology System, Beaumont Health

Dr. Bhadu Singh said fetal heart ultrasound is currently the only screening tool available for early (prenatal) detection of congenital heart defects. Unfortunately, in the United States, about half of fetal congenital heart defects are identified only on prenatal ultrasounds. Because of this limitation, it is now the standard of care for checking and monitoring oxygen levels in newborns, by means of pulse oximetry. Unfortunately, pulse oximetry is still missing about 10% of critical neonatal heart defects, resulting in increased mortality and severe complications.

Birth defects, especially those caused by heart disease, are a major cause of infant mortality. These include a hole in the heart, which is most common, and other fatal congenital heart defects that may affect oxygen levels and blood flow at birth; valve and other abnormalities. Smoking, alcohol abuse, environmental toxins, and vitamin deficiencies are known to contribute to the development of congenital heart defects. Dr. Bhadu Singh explained that these factors cause chemical (“genetic”) changes in DNA that can affect the function of genes critical to heart development “by turning the genes on or off”.

He completed. “You need a certain set of genes on and some others off, for example, to make sure the chambers of the heart are fully developed. Turning the wrong genes on or off in this naturally coordinated symphony can cause a developmental defect that leads to to major heart defects.

Dr. Bhadu Singh explained that AI analysis of circulating (including fetal) DNA extracted from the mother’s blood, “enables us to efficiently review billions of potential information in the genome. This includes rapidly identifying specific predictors of a possible fetus with heart defects and separating those who need to be treated.” Continuous follow up.

Ultimately, Dr. Bhadu Singh would like to see all pregnant women get immediate access to screening – through a blood test, which does not require advance appointments or extended leave from work. Those who test positive for detailed cardiac, fetal, and neonatal ultrasounds can then be referred for appropriate early intervention, as needed. “We are still far from that,” he said. “But it’s exciting to think about the possibilities.”


Journal reference:

Bhadu Singh, R.; et al. (2022) Maternal cell-free DNA in blood and artificial intelligence: accurate prenatal detection of congenital heart defects in the fetus. American Journal of Obstetrics and Gynecology.

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