Universal newborn hearing screening (UNHS) was begun in the United States in several geographic locations, the states of Rhode Island, Hawaii, and Colorado in the early 1990s. Since that time, evidence-based research indicates that universal newborn hearing screening results in earlier identification of congenital hearing loss leading to the provision of earlier intervention. Outcome data of ch...

OBJECTIVE The objective of the study was to evaluate the efficacy of national newborn screening for severe congenital adrenal hyperplasia (CAH) in New Zealand over the past 20 years. METHODS Newborn screening for CAH is performed through the estimation of 17-hydroxyprogesterone by a Delfia immunoassay. CAH cases diagnosed in the newborn period from 1994 to 2013 were identified from Newborn Me...

After newborn screening is completed, most states retain leftover dried bloodspots. These dried bloodspots are stored for varying lengths of time among different state newborn screening programs. Dried bloodspots are a unique and valuable resource for the development of new newborn screening tests, quality assurance and biomedical research. Recent changes to the 2014 Newborn Screening Reauthori...

OBJECTIVES Newborn screening for cystic fibrosis (CF) facilitates early diagnosis and genetic counselling for parents of affected infants. Many parents elect to use prenatal testing for subsequent pregnancies, and this may affect the prevalence of CF. The aim of this study was to assess the evidence for changes in the live-birth prevalence of CF since the introduction of newborn screening for C...

These newborn screening fact sheets were developed by the Committee on Genetics of the American Academy of Pediatrics (AAP) with considerable assistance and consultation from many individuals. It is hoped that the information contained in these fact sheets will assist the pediatrician in understanding the individual tests, their characteristics, and their strengths and weaknesses. Newborn scree...

Newborn screening for severe combined immunodeficiency (SCID) is currently being performed in many states. It is important to address diagnostic challenges while outcomes are emerging from the first several years of screening. We present the case of a premature infant whose initial newborn screen was strongly positive for SCID. Subsequent lymphocyte subset analysis by flow cytometry was difficu...

There are several important messages for pediatricians concerned with what happens to patients after identification through newborn screening. Particularly important in many of the disorders are the developmental aspects of outcome. There are certain basic assumptions that are essential in improving developmental outcome as a result of newborn screening: 1) newborn screening leads to early case...

In the 1970's, the government began to take steps for the treatment of congenital diseases. Mass newborn screening was started in October 1977 throughout Japan in order to detect five inborn errors of metabolism including phenylketonuria, maple syrup urine disease, homocystinuria, histidinemia, and galactosemia. In 1979, mass screening for congenital hypothyroidism was added to the original pro...

The present statement reviews the evidence for universal newborn hearing screening (UNHS). A systematic review of the literature was conducted using Medline and using search dates from 1996 to the third week of August 2009. The following search terms were used: neonatal screening AND hearing loss AND hearing disorders. The key phrase "universal newborn hearing screening" was also searched. The ...

In Indonesia, newborn screening is not yet a policy, and the incidence of preventable causes of mental retardation detected by newborn screening is not known. Congenital hypothyroidism (CH) is not infrequent. Without a screening program, unrecognized CH patients were neglected for years. Since May 1999, the International Atomic Energy Agency (IAEA) has assisted in starting a CH Newborn Screenin...