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 ...

Advances in technology and the expansion of screening programs has contributed to earlier detection of genetic and pregnancy associated health conditions and structural anomalies prenatally, ...

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 ...

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, ...

Every newborn undergoes screening in their first few days of life. It is a quick routine that mostly brings peace of mind. But for a small number of families, the results can be abnormal. An abnormal ...

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 ...

Atypical metabolic markers from routine newborn screening were associated with sudden infant death syndrome (SIDS), a case-control study suggested. Fourteen metabolic markers significantly correlated ...