BACKGROUND Five diseases are currently screened on dried blood spots in France through the national newborn screening programme. Tandem mass spectrometry (MS/MS) is a technology that is increasingly used to screen newborns for an increasing number of hereditary metabolic diseases. Medium chain acyl-CoA dehydrogenase deficiency (MCADD) is among these diseases. We sought to evaluate the cost-effe...

OBJECTIVES The purpose of this study was to identify what stakeholders considered best practices for parent-provider communication regarding newborn hearing screening and diagnosis. We used consensus data to develop educational materials for parents. METHODS We conducted 29 focus groups and 23 individual interviews between October 2003 and May 2004. Participants included (1) English- and Span...

Biotinidase deficiency is an inherited metabolic disorder that, if untreated, can result in neurological and cutaneous symptoms. If treated with the vitamin biotin, individuals with the disorder can markedly improve, but still may have some irreversible problems if therapy is delayed. If treated at birth, biotin therapy can prevent the development of symptoms as indicated by long-term outcomes....

BACKGROUND Neonatal screening for 21 hydroxylase deficiency is designed to detect classical form of congenital adrenal hyperplasia (CAH). It is still unclear whether newborns who result false positives at neonatal screening might later develop signs of androgen excess. The aim of this study is to verify whether a slightly elevated 17-OHP at newborn screening is a predictive factor for premature...

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...

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...

OBJECTIVE Newborn bloodspot screening is an internationally established public health measure. Despite this, there is a paucity of information relating to the decision-making process that parents go through when accepting newborn screening. This is important as screening panels are expanding; potentially leading to an increasing amount of complex information. This study sought to understand the...

The rapid introduction of new technologies for newborn screening is affecting decisions about the disorders (conditions) that are required or offered as an option through public and private newborn screening. An American College of Medical Genetics report to the Health Resources and Services Administration summarized an extensive effort by a group of experts, with diverse expertise within the n...

We report the cases of 3 infants with congenital hypothyroidism detected with the use of our newborn screening program, with evidence supporting excess maternal iodine ingestion (12.5 mg/d) as the etiology. Levels of whole blood iodine extracted from their newborn screening specimens were 10 times above mean control levels. Excess iodine ingestion from nutritional supplements is often unrecogni...

Introduction: Congenital hypothyroidism is the most common endocrine disease and is a major cause of preventable mental retardation. In most cases, it seems quite natural born at birth with delayed diagnosis, complications will cause irreparable brain. Now almost all industrialized countries and many developing countries the newborn screening program to systematically do. Khorasan Province neon...