Rethinking Newborn Screening for Critical Congenital Heart Disease

Critical congenital heart disease (CCHD) screening in newborns is undergoing reevaluation due to persistent limitations in the current standard method, pulse oximetry, which has been shown to perform less accurately in infants with darker skin tones and may miss certain heart defects that do not significantly affect blood oxygen levels.

According to the Centers for Disease Control and Prevention, approximately one in four babies born with a heart defect has a critical form requiring intervention within the first year of life. While universal pulse oximetry screening has reduced mortality associated with CCHDs, researchers highlight that the technology’s reliance on light absorption through hemoglobin introduces bias, as the algorithms were primarily developed and tested on lighter skin tones.

Amirtahà Taebi, an assistant professor of bioengineering at Lehigh University’s P.C. Rossin College of Engineering and Applied Science, explains that pulse oximetry can overestimate oxygen saturation in infants with darker skin, potentially leading to delayed or missed diagnoses. “In the U.S., about 50 percent of newborns have darker skin tones,” Taebi states, underscoring the demographic relevance of the limitation.

some forms of CCHD do not alter blood oxygen levels sufficiently to be detected by pulse oximetry, creating a blind spot in the current screening protocol. Taebi notes that while the method has had a significant impact on reducing mortality, its critical flaws necessitate the development of more effective and equitable screening approaches.

To address these shortcomings, Taebi is leading research into a novel screening method based on detecting chest vibrations rather than blood oxygen saturation. This approach aims to identify structural heart abnormalities through mechanical signals generated by the heart’s activity, potentially offering a more consistent assessment across diverse skin tones and a broader range of defect types.

In 2024, while serving as an assistant professor at Mississippi State University, Taebi received a Faculty Early Career Development (CAREER) award from the National Science Foundation to support this work. The CAREER program recognizes early-career faculty who demonstrate excellence in integrating research and education, providing five years of stable funding to advance innovative projects with broad impact.

The research focuses on creating a screening tool that is both more accurate and more equitable, particularly for populations historically underserved by existing diagnostic technologies. By shifting the physiological signal measured—from oxygenation to vibrational patterns—the method seeks to overcome the inherent limitations of optical sensing in biomedical devices.

As of now, all babies born in U.S. Hospitals continue to receive pulse oximetry screening for CCHD as part of standard newborn care. However, ongoing efforts like Taebi’s reflect a growing recognition within the medical and bioengineering communities that technological equity must be embedded in the design of public health screening programs from the outset.