In The Lancet, Shakila Thangaratinam and colleagues report fi ndings from a systematic review and metaanalysis of pulse oximetry screening for critical congenital heart defects in asymptomatic newborn babies. The investigators note that the overall sensitivity of pulse oximetry (76·5%, 95% CI 67·7–83·5) compared with other methods of detection (eg, prenatal ultrasound and routine physical exam)...

All newborn screening laboratories in the United States and many worldwide screen for cystic fibrosis. Most laboratories use a second-tier genotyping assay to identify a panel of mutations in the CF transmembrane regulator (CFTR) gene. Centers for Disease Control and Prevention's Newborn Screening Quality Assurance Program houses a dried blood spot repository of samples containing CFTR mutation...

This thesis explores decision-making and perceptions of decisional quality in parents whose children have undergone newborn bloodspot screening. Newborn bloodspot screening is the programme through which newborn babies are screened for a variety of conditions shortly after birth. In the UK babies are screened for phenylketonuria (PKU), congenital hypothyroidism (CH), sickle cell diseases (SCD),...

Expanded newborn screening (NBS) is aimed for early detection and intervention of treatable inborn errors of metabolism and also to establish incidence of these disorders in this part of the globe. The first expanded NBS programme initiated in the capital city of Andhra Pradesh to screen all the newborns born in four major Government Maternity Hospitals in Hyderabad by heel prick capillary bloo...

These newborn screening fact sheets were developed by the Committee on Genetics of the Amencan Academy of Pediatrics with considerable assistance and consultation from many individuals. The fact sheets were not designed to advocate specific newborn screening tests but rather to inform pediatricians about these tests. Many states are considering addition of new tests to their screening batteries...

These newborn screening fact sheets were developed by the Committee on Genetics of the Amencan Academy of Pediatrics with considerable assistance and consultation from many individuals. The fact sheets were not designed to advocate specific newborn screening tests but rather to inform pediatricians about these tests. Many states are considering addition of new tests to their screening batteries...

Congenital hearing loss is estimated to affect one in every 1,000 newborns. Causes of hearing loss can be conductive, sensorineural, mixed, or central. Known risk factors for congenital hearing loss include cytomegalovirus infection and premature birth necessitating a stay in the neonatal intensive care unit. However, up to 42 percent of profoundly hearing-impaired children will be missed using...

Newborn screening started in Bangladesh in 1999. The programme started as part of a regional project of the International Atomic Energy Agency (IAEA) to screen for congenital hypothyroidism (CH). In the beginning the IAEA helped the country with equipment, filter papers, reagents, training and expert services. Since 1999, 2 pilot projects to screen newborns for CH were completed. Under these pr...

Newborn screening, which represents one of the major advances in child health of the past century, has been carried out in all fifty U.S. states since the 1970s. Newborn screening programs are state-run, and decisions are left to the individual states regarding the conditions to be screened for, the mechanism for confirmatory testing, follow-up care, and financing of the programs. Laboratory ad...

The primary justification for early identification of hearing impairment in infants relates to the impact of hearing impairment on speech and language acquisition, academic achievement, and social and emotional development [1-3]. The first three years of life are most important for speech and language acquisition. Animal studies have shown that early auditory deprivation interferes with the dev...