Pediatrics

Focus on quality ups newborn screening follow-up

(HealthDay) -- Primary care pediatric practices can improve short-term newborn screening (NBS) follow-up through quality-improvement processes, according to a study published online Aug. 6 in Pediatrics.

Diseases, Conditions, Syndromes

Newborn screening may miss adrenal-gland disorder

(HealthDay) -- Routine newborn screening failed to identify about one-fifth of infants with an adrenal gland disorder called congenital adrenal hyperplasia, a new study has found.

Neuroscience

Newborn screening for DMD shows promise as an international model

Investigators at Nationwide Children's Hospital, working with the DNA Sequencing Core Facility at the University of Utah, have developed an approach to newborn screening (NBS) for the life-threatening genetic disorder, Duchenne ...

Genetics

BabySeq 2.0: Bringing equity to genomic sequencing in newborns

Today, nearly 900 disorders caused by a single gene are known to be treatable. Yet the recommended "heel stick" testing for newborns only covers about 60 inherited, treatable disorders, and many individual states screen for ...

Diseases, Conditions, Syndromes

Is the cure for genetic beta thalassemia finally within reach?

UCSF Benioff Children's Hospital Oakland is the first hospital in the West to administer a newly approved gene therapy to treat beta thalassemia, a rare, genetic blood disorder that causes severe anemia, with a need for lifelong ...

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