"Newborn screening for cystic fibrosis has been universal in the U.S. since 2010; however, there is significant variation among newborn screening algorithms," Meghan E. McGarry, MD, of Seattle ...

Eliminating the ACHDNC creates a dangerous vacuum in the nation’s newborn screening system, stalling progress on adding life-saving tests to the RUSP and increasing the risk that diagnoses will ...

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 ...

An opportunity to fill a gap for newborn screening of neurodevelopmental disorders. Int J Neonatal Screen. 2024;10(2):33. Furnier SM, et al. Translating molecular technologies into routine newborn ...

In CF newborn screening programs with variant panels that do not include all CF-causing variants in CFTR2 or variant panels that do not achieve at least 95% sensitivity in all ancestral groups ...

The new guideline sets out to make newborn screening for CF more equitable by recommending that states test for all CF-causing gene variants. As of September 2024, 1,085 CF-causing gene variants ...

The story of newborn screening in the U.S. began with my disorder, PKU. Robert Guthrie, a microbiologist and pediatrician, devised the PKU blood test for babies in the 1960s and so launched the ...

In all, 12 states now align their newborn screening regimens with the RUSP, but Wisconsin is not among them. Haugstad insists it's only a matter of time. "We’re going to change this," she said.

Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselection. The American Journal of Human Genetics . doi ...

Newborn screening for vitamin B12 deficiency: benefits outweigh harms. In contrast to the preliminary report, in the final report IQWiG recommends screening for acquired vitamin B12 deficiency in ...

All states need to bring their newborn cystic fibrosis (CF) screening programs into line to ensure timely detection when intervention can do the most good, according to consensus guidelines from ...