1. Nelson HD, Bougatsos C, Nygren P. Universal newborn Hearing screening: systematic review to update the 2001 US Preventive Services Task Force Recommendation. Pediatrics. 2008;122:e266-76. 2. American Academy of Pediatrics, Joint Committee on Infant Hearing Year 2007 position statement: Principles and guidelines for early hearing detection and intervention programs. Pediatrics. 2007;120:898-9...

OBJECTIVE The Alpha-1 Foundation convened a workshop to consider the appropriateness of newborn screening for α-1-antitrypsin (AAT) deficiency. METHODS A review of natural history and technical data was conducted. RESULTS Homozygous ZZ AAT deficiency is a common genetic disease occurring in 1 in 2000 to 3500 births; however, it is underrecognized and most patients are undiagnosed. AAT defic...

BACKGROUND Although octanoylcarnitine (C8) concentrations measured from newborn screening dried blood spots are used to identify those at high risk of medium-chain acyl-CoA dehydrogenase deficiency (MCADD), age-related reference values are currently not available for unaffected newborn populations. Because age at sampling may vary within and between screening programs, variations in C8 concentr...

BACKGROUND Medium Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency is an autosomal recessive disorder of fatty acid oxidation, with potential fatal outcome. MCAD deficiency is diagnosed by acylcarnitine analysis on newborn screening blood spot cards by tandem mass spectrometry. Early diagnosis of MCAD and presymptomatic treatment can potentially reduce morbidity and mortality. OBJECTIVES To eva...

We developed a video and an app for obtaining consent about allowing newborn blood spots (NBS) to be used as biospecimen resources biobanking. Newborn screening programs test treatable diseases leave residual biospecimens that can in future research activities. conducted focus groups interviews with three diverse communities determine (a) how well the tools worked (b) participant familiarity NB...

A survey related to universal newborn hearing screening was created with permission granted, based on the following study and adapted to the Italian situation: Primary Care Physicians’ Knowledge, Attitudes, and Practices Related to Newborn Hearing Screening (Mary Pat Moeller, PhD, Karl R. White, PhD and Lenore Shisler, MS). First distributed in October, 2008, the survey was given to 300 pediatr...

Newborn screening for critical congenital heart defects (CCHD) was added to the US Recommended Uniform Screening Panel in 2011. Within 4 years, 46 states and the District of Columbia had adopted it into their newborn screening program, leading to CCHD screening being nearly universal in the United States. This rapid adoption occurred while there were still questions about the effectiveness of t...

OBJECTIVE Universal newborn hearing screening focuses on providing the earliest possible diagnosis for infants with permanent hearing loss. The goal is to prevent or minimize the consequences of sensorineural hearing loss on speech and language development through timely and effective diagnosis and interventions. Pediatricians are in a key position to educate families about the importance of fo...

OBJECTIVE To evaluate newborn screening by tandem mass spectrometry for detection of medium chain acyl-CoA dehydrogenase (MCAD) deficiency, a fatty acid oxidation disorder with significant mortality in undiagnosed patients. DESIGN The following were studied: (a) 13 clinically detected MCAD deficient subjects, most homozygous for the common A985G mutation, whose newborn screening sample was av...

Scientific and technological advances are lending pressure to expand the scope of newborn screening. Whereas this has great potential for improving child health, it also challenges our current perception of such programmes. Standard newborn screening programmes are clearly justified by the fact that early detection and treatment of affected individuals avoids significant morbidity and mortality...