The expansion of newborn screening programs to include multiplex testing by tandem mass spectrometry requires understanding and close monitoring of performance metrics. This is not done consistently because of lack of defined targets, and interlaboratory comparison is almost nonexistent. Between July 2004 and April 2006 (N = 176,185 cases), the…

Expansion of newborn screening (NBS) has been driven primarily by a combination of advances in technology and medical treatment, and the sustained advocacy efforts of consumers and voluntary health organizations. The longstanding leadership of the March of Dimes has been credited by many as a critical factor in the expansion and improvement of…

Recent changes in genetics research have created new opportunities to improve the scope and quality of newborn screening services. Changes in newborn screening should be supported and directed by an organized program of research. The NICHD Research Initiative in Newborn Screening includes the development of systematic methods to identify…

In an ideal world, each neonate should have a comprehensive neurological examination but in practice this is often difficult. In this review we will describe what a routine neurological evaluation in the full-term neonate should consist of and how the Dubowitz examination is performed. The examination has been used for over 20 years and can be…

The term "pilot study" has been used over the years to describe the evaluation of the many elements involved in deciding whether a proposed condition should be added to a newborn screening (NBS) panel, and until recently, was unilaterally used to describe the evaluation of the assay to be used before the condition was officially adopted by a state…

Newborn screening has existed as a state-based public health service since the early 1960s. Every state and most territorial jurisdictions have comprehensive newborn screening programs in place, but in the United States a national newborn screening policy does not exist. This results in different administrative infrastructures, screening…

Universal newborn screening programs for metabolic disorders are typically described as a triumph of medicine and public policy in the US over the last 50 years. Advances in science and technology, including the Human Genome Project, offer the opportunity to expand universal newborn screening programs to include many additional metabolic and…

The aim of newborn screening is to identify presymptomatic healthy infants that will develop significant metabolic or endocrine derangements if left undiagnosed and untreated. The goal of ultimately reducing or eliminating irreversible sequelae is reached by maximizing test sensitivity of the primary newborn screening that measures specific…

Newborn screening and genetic technologies are expanding and changing rapidly, increasing the demand for genetic specialty services. Because of the scarcity and geographic maldistribution of genetic specialty services, access to these services is a critical issue. This article discusses some of the efforts initiated by the Maternal and Child…

This review provides an overview and definition of the concept of neurobehavior in human development. Two neurobehavioral assessments used by the authors in current fetal and infant research are discussed: the NICU Network Neurobehavioral Assessment Scale and the Fetal Neurobehavior Coding System. This review will present how the two assessments…

The likelihood of benefit is fundamental to decision making about newborn screening. But benefit is construed in different ways by different stakeholders. This article begins with a review of benefit as considered historically by various expert panels and organizations. We then show how 78 conditions fared when experts recently rated them on…

Newborn screening for fragile X syndrome (FXS) is technically possible, and in the relatively near future accurate and inexpensive screening technologies are likely to be available. When that happens, will America's public health system adopt newborn screening for fragile X syndrome? This article addresses this issue by first placing screening for…

The Assessment of Preterm Infants' Behavior (APIB) is a newborn neurobehavioral assessment appropriate for preterm, at risk, and full-term newborns, from birth to 1 month after expected due date. The APIB is based in ethological--evolutionary thought and focuses on the assessment of mutually interacting behavioral subsystems in simultaneous…

Expanded newborn screening programs and subsequent detection of rare genetic disorders challenge parents and their medical providers to learn about the treatment and management of these disorders. Many people seek medical information on the Internet but may encounter requests for registration or fees, or find that resources are out of date,…