Congenital CMV infection is a leading cause of childhood disability. Many children born with
congenital CMV infection are asymptomatic or have nonspecific symptoms and therefore are …

Inborn errors of metabolism (IEMs) are rare genetic or inherited disorders resulting from an
enzyme defect in biochemical and metabolic pathways affecting proteins, fats …

Objective To determine whether the benefits of universal newborn hearing screening
(UNHS) seen at age 8 years persist through the second decade. Design Prospective cohort …

Breastfeeding Management for the Clinician: Using the Evidence is the perfect tool for busy
clinicians who need a quick, accurate, and current reference. It provides the essentials of …

Newborn screening aims to achieve early presymptomatic diagnosis of treatable disorders
for which timely intervention is critical to improve the outcome. Many of the conditions …

Objectives Contrary to many western European countries, most south-eastern European
countries do not have an expanded newborn screening (NBS) program using tandem mass …

Methods: Tandem mass spectrometry was used for the screening of dried blood spot
samples. Next-generation sequencing was introduced for confirmatory testing. Existing …

Newborn screening has evolved to include an increasingly complex spectrum of diseases,
raising concerns that screening should be optional and require parental consent. Early …

Spinal muscular atrophy (SMA) is the most common genetic cause of infant mortality.
Children with type I SMA typically die by the age of 2 years. Recent progress in gene …

Newborn screening is a major aspect of public health success. Babies in every state are
tested for a recommended uniform screening panel of conditions not otherwise immediately …