The US Food and Drug Administration (FDA) has cleared for marketing the first screening test for severe combined immunodeficiency (SCID) in newborns. The EnLite Neonatal TREC Kit, manufactured by ...

The earlier diseases are diagnosed, the earlier they can be treated. Unfortunately, time is often of the essence for those with rare genetic disorders. For example, the few therapies that exist for ...

While the challenges in affordability and accessibility emphasize the importance of early awareness and interventions, equitable access to the screening itself poses a crucial hindrance. A new study ...

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 ...

Early results from 4,000 babies show that genome sequencing picks up many more serious health conditions than standard newborn screening and is favored by most parents. Early results from a study of ...

Arizona is expanding its newborn health screening program, even as the federal process for adding new disorders has stalled. The state plans to screen for 39 different rare disorders by 2027, up from ...

States screen for cystic fibrosis (CF) but with significant variation among their screening algorithms. The Cystic Fibrosis Foundation group conducted a systematic review, leading to seven ...

Yet, the effectiveness of genetic sequencing as an alternative method for NBS has not previously been studied. To evaluate the outcomes of applying gene panel sequencing as a first-tier newborn ...

The United States Cystic Fibrosis Foundation released the first guideline on newborn screening for cystic fibrosis (CF), in order to improve timely detection of CF in infants from all racial and ...

We were unable to process your request. Please try again later. If you continue to have this issue please contact [email protected]. A little over 40% of parents did not know about the ...

Newborn screening, which represents one of the major advances in child health of the past century, has been carried out in all fifty U.S. states since the 1970s. New-born screening programs are ...