UCSF Pediatrics Professor Jennifer Puck, MD, has spent decades pushing for universal newborn screening to detect severe combined immune deficiency (SCID), a rare but deadly genetic disorder. Today, ...

A comprehensive eight-year study examining audiological outcomes of newborns screened for congenital cytomegalovirus (cCMV) ...

The National Academies of Sciences, Engineering, and Medicine are private, nonprofit institutions that provide expert advice on some of the most pressing challenges facing the nation and world. Our ...

Adding genomic sequencing to newborn blood screening would detect hundreds of additional childhood conditions, providing much earlier diagnosis and treatment, according to a new study. A baby's genome ...

A team led by researchers at Baylor College of Medicine found that a screening method known as untargeted metabolomics profiling can improve the diagnostic rate for inborn errors of metabolism, a ...

I got a blood test as a newborn that changed the course of my life forever. The test, part of newborn screening performed on babies across the U.S. led to my being diagnosed with a rare inherited ...