Screening for phenylketonuria (PKU) and congenital hypothyroidism (CH) is of concern to parents, physicians, and public health professionals. Parents have an abiding interest in a predictive activity that can prevent disease in their offspring. Physicians and their consultants must counsel parents and interpret a positive screening test. Public health personnel are concerned with the specificit...

The hemoglobinopathies encompass a heterogeneous group of disorders associated with mutations in both the alpha-globin and beta-globin genes. Increased immigration of high-risk populations has prompted the implementation of prenatal and newborn screening programs for hemoglobinopathies across Europe and North America. In Canada, the UK, and other European countries, prenatal screening to identi...

ewborn screening has substantially changed the geneticmetabolic world and greatly expanded the concept of preventive medicine. This expansion has been marked by two major milestones in the 50-year history of newborn screening: the first, pre-tandem mass spectrometry, included the early detection of phenylketonuria (PKU), galactosemia, homocystinuria, maple syrup urine disease, congenital hypoth...

The four traditional criteria for newborn screening originated in 1963 with the development of the Guthrie test for phenylketonuria (PKU). The first criterion was that there be a disease, not simply a laboratory variation; for example, PKU and congenital hypothyroidism are examples of laboratory abnormalities which are associated with pathological states. The second criterion was that the disea...

Introduction On December 13-14, 2010, the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), the National Human Genome Research Institute (NHGRI), and the NIH Office of Rare Diseases Research sponsored a workshop, Newborn Screening in the Genomic Era: Setting a Research Agenda. The purpose of the meeting was to identify elements of a trans-NIH research agen...

There may be compelling reasons to return to parents a limited subset of results from research conducted using residual newborn screening dried blood samples (DBS). This article explores the circumstances under which research results might be returned, as well as the mechanisms by which state newborn screening programs might facilitate the return of research results. The scope of any responsibi...

Newborn screening began in the early 1960s and during the four decades it has existed, has become a recognized vital public health prevention program. It has evolved conceptually from a laboratory test for a single disorder, phenylketonuria, to a comprehensive 6-part public health system of education, screening, follow-up, diagnosis, management, and evaluation. Newborn screening in different co...

Births in Singapore are almost exclusively in hospitals and this is conducive to mass newborn screening. Mass newborn screeningbegan in 1965 for G6PD deficiency and has led to successful eradication of the complicating kernicterus. Screening has also identified the distinct ethnic and sex linked variations in incidence. The predominant molecular abnormality is the Canton variant. Congenital hyp...