Screening for cystic fibrosis is highly controversial. Concerns have been expressed that newborn screening may cause mothers, who had considered their child to be healthy before diagnosis, to overprotect their child. Some critics of screening also suggest that a period of delay from onset of symptoms to diagnosis may help a mother adjust to the reality of the child's lethal condition. This stud...

In the last decade, universal newborn screening (NBS) has entered a new era of promise and controversy. With the use of tandem mass spectroscopy, states have substantially increased the number of conditions included in mandatory NBS programs.1 This expansion has mostly followed recommendations from an expert panel commissioned by theMaternal and Child Health Bureau, which proposed mandated scre...

The lack of a national policy on newborn screening (NBS) in the United States has resulted in 51 state-specific NBS policies (including 50 states and the District of Columbia). In 2000, a working group of the American Academy of Pediatrics provided a national NBS blueprint for the future. Using this guidance, the Health Resources and Services Administration contracted with the American College ...

Detection of reducing substances in urine has been a standard laboratory procedure for about 50 yr. It is used as a screening test for inborn errors of carbohydrate metabolism. Although the test has poor specificity and most states perform mandatory newborn screening for the common genetic defects, most clinical laboratories still perform this as a reflex test on all pediatric urine samples. We...

In the 1960s, newborn screening programs tested for a single very rare but serious disorder. In recent years, thanks to the development of new screening technology, they have expanded into panels of tests; a federally sponsored expert group has recommended that states test for twenty-nine core disorders and twenty-five secondary disorders. By the standards used to decide whether to introduce ne...

The year 2013 marks 50 years of both newborn screening and the Indian Academy of Pediatrics. India has seen a lot of change in terms of motivation, evolution and implementation of newborn screening as pilot projects for few disorders. Facilities for implementing screening using tandem mass spectrometry or what is termed as expanded newborn screening have also become available. We attempt to dis...

BACKGROUND AND OBJECTIVES There are conflicting views as to whether testing for biotinidase deficiency (BD) ought to be incorporated into universal newborn screening (NBS) programs. The aim of this study was to evaluate the cost-effectiveness of adding BD to the panel of conditions currently screened under the national NBS program in Spain. METHODS We used information from the regional NBS pr...

Professor Naruse has outlined (see article in this issue) the events that were the forerunners to the formation of the International Society for Neonatal Screening (ISNS). The first three meetings on newborn screening in Dubrovnik, Tel-Aviv (Cohen ef al, 1971) and Warsaw, were closed meetings for selected participants, and little information was generally available after the meetings. The next ...

Recent technological advances have made feasible universal newborn hearing screening and therefore early detection of permanent childhood hearing impairment. Over the past three years, new information has been published on whether early intervention is beneficial, the possibility of harm arising from newborn screening, and its cost. Dramatic progress has been made in the large scale implementat...

BACKGROUND With further expansion of the number of conditions for which newborn screening can be undertaken, it is timely to consider the impact of positive screening results and the confirmatory testing period on the families involved. This study was undertaken as part of a larger programme of work to evaluate the Expanded Newborn Screening (ENBS) programme in the United Kingdom (UK). It was a...