A committee of experts will conduct a study examining the current landscape of newborn screening (NBS) systems, processes, and research in the United States and consider sustainable adoption of ...

Congenital CMV is the most common nongenetic cause of hearing loss in children and a leading cause of other neurologic ...

There are 2 methods of screening for disorders on the RUSP: dried bloodspot screening and point of care screening, both of which are generally performed prior to discharge at the hospital where the ...

September is Newborn Screening Awareness Month, highlighting the importance of early detection and intervention for newborns. Here, Dr. Joshua Baker, attending physician in genetics, genomics and ...

Every year, millions of newborns undergo routine screening as a preventive strategy to detect inherited disorders before ...

An updated report on cystic fibrosis (CF) from Ann & Robert H. Lurie Children's Hospital of Chicago, in partnership with the ...

It could be years before Wisconsin begins testing for a rare but potentially deadly disease in newborns. The test would be for Krabbe, a recessive genetic condition that belongs to a group of ...

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 ...

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, ...

February is Rare Disease month, and two Utah families are leading the way in newborn screening for Creatine Deficiency.