JAMA Network | JAMA | Newborn Screening for Severe Combined Immunodeficiency: Progress and Challenges

JAMA Network | JAMA | Newborn Screening for Severe Combined Immunodeficiency:  Progress and Challenges

Newborn Screening

Comprehensive CFTR gene analysis of the French cystic fibrosis screened newborn cohort: implications for diagnosis, genetic counseling, and mutation-specific therapy 
Audrezet MP, et al. Genet Med 2014 Aug

Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. 
Antonia Kwan, et al. JAMA, August 20, 2014

Editorial: Newborn screening for severe combined immunodeficiency:  Progress and challenges 
Neil A. Holtzman. JAMA. 2014;312(7):701-702. 

SCID prevalence double previous estimates, Medscape, Aug 19 [by free subscription only]

Newborn screening for Pompe disease? A qualitative study exploring professional views 
van El CG, et al. BMC Pediatr 2014 Aug;14(1):203

NIH News: Test reliably detects inherited immune deficiency in newborns
NIH-supported study suggests that early diagnosis of severe combined immunodeficiency leads to high survival rates, Aug 20

Newborn screening now in 21 states for life-threatening immune disease, Advanced Healthcare Network, Aug 17