Newborn screening has provided a model of a successful public health screening program for the past 40 years. However, the history of newborn screening is not without controversy. Many of these controversies have been rekindled with the introduction of tandem mass spectrometry, a technology that has greatly increased our ability to detect potential disease in asymptomatic newborns. This review ...

OBJECTIVE Mandated state newborn screening programs for the approximately 4 million infants born each year in the United States involves the following 5 components: 1) initial screening, 2) immediate follow-up testing of the screen-positive newborn, 3) diagnosis confirmation (true positive versus false positive), 4) immediate and long-term care, and 5) evaluation of all of the components of the...

Family physicians treat an increasing number of children with metabolic disorders identified through newborn screening, and they are often the first line of defense in responding to an abnormal screening result. How the family physician chooses to interpret information from the screening and what he or she chooses to tell the family affects the parent-child relationship, as well as the infant's...

Newborn screening for cystic fibrosis (CF) by examining the levels of immunoreactive trypsinogen was introduced in Victoria in 1989. This was modified by the addition of testing for the common CF gene mutation, delta F508, in 1990. Problems with the first newborn screening protocol were overcome with the addition of the DNA test as there was no need to contact the majority of families, there wa...

Newborn bloodspot screening has been operating successfully in Australia for almost 50 years. Recently, the development of new technologies and treatments has led to calls for the addition of new conditions to the screening programs. Internationally, it is recognized by governments that national policies for newborn screening should support transparent and evidence-based decision making, and pr...

BACKGROUND Economic evaluation of newborn screening poses specific methodological challenges. Amongst others, these challenges refer to the use of quality adjusted life years (QALYs) in newborns, and which costs and outcomes need to be considered in a full evaluation of newborn screening programmes. Because of the increasing scale and scope of such programmes, a better understanding of the meth...

Newborn screening is now integrated into routine neonatal practice in many parts of the world, and the overall ethical acceptability of newborn screening programmes is well recognised.1 Although the procedure corresponds in essence to genetic screening, it is seldom referred to as such and is often categorised as a public health disease prevention programme aimed at early detection and treatmen...

This statement endorses the implementation of universal newborn hearing screening. In addition, the statement reviews the primary objectives, important components, and recommended screening parameters that characterize an effective universal newborn hearing screening program.

TO THE EDITOR: We write to encourage policy debate over newborn screening for congenital adrenal hyperplasia (CAH). Classical CAH is a severe, life-threatening disease affecting about one in 15 000 liveborn infants in Australia.1 An inexpensive screening test for newborns is available, but this test is not included in the current newborn screening program in Australia. Three-quarters of childre...

Newborn screening should provide opportunities to improve clinical outcomes and prevent complications. Care in a cystic fibrosis (CF) specialist center and early referral to a specialist CF center are associated with improved lung function [1–3]. Guidelines have been published on the early management of infants diagnosed through newborn screening [4,5]. There is good evidence from randomized cl...