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Newborn screening
MeSH
D015997
MedlinePlus
007257
[edit on Wikidata]
Newborn screening (NBS) is a public health program of screening in infants shortly after birth for conditions that are treatable, but not clinically evident in the newborn period. The goal is to identify infants at risk for these conditions early enough to confirm the diagnosis and provide intervention that will alter the clinical course of the disease and prevent or ameliorate the clinical manifestations. NBS started with the discovery that the amino acid disorder phenylketonuria (PKU) could be treated by dietary adjustment, and that early intervention was required for the best outcome. Infants with PKU appear normal at birth, but are unable to metabolize the essential amino acid phenylalanine, resulting in irreversible intellectual disability. In the 1960s, Robert Guthrie developed a simple method using a bacterial inhibition assay that could detect high levels of phenylalanine in blood shortly after a baby was born. Guthrie also pioneered the collection of blood on filter paper which could be easily transported, recognizing the need for a simple system if the screening was going to be done on a large scale. Newborn screening around the world is still done using similar filter paper. NBS was first introduced as a public health program in the United States in the early 1960s, and has expanded to countries around the world.
Screening programs are often run by state or national governing bodies with the goal of screening all infants born in the jurisdiction for a defined panel of treatable disorders. The number of diseases screened for is set by each jurisdiction, and can vary greatly. Most NBS tests are done by measuring metabolites or enzyme activity in whole blood samples collected on filter paper. Bedside tests for hearing loss using automated auditory brainstem response and congenital heart defects using pulse oximetry are included in some NBS programs. Infants who screen positive undergo further testing to determine if they are truly affected with a disease or if the test result was a false positive. Follow-up testing is typically coordinated between geneticists and the infant's pediatrician or primary care physician.
Newbornscreening (NBS) is a public health program of screening in infants shortly after birth for conditions that are treatable, but not clinically evident...
countries test all newborns for SCID as a part of routine newbornscreening. As of September 2022, the known percentage of newborns screened has increased...
parents to improve state newbornscreening programs and to make comprehensive newbornscreening programs available to every newborn throughout the country...
Padilla is a leading advocate for newbornscreening. She and her colleagues helped to establish the NewbornScreening System (NBS) in the Philippines,...
Edinburgh, Scotland, eight 47,XYY boys born 1967–1972 and identified in a newbornscreening programme had an average height of 188.1 cm (6 ft 2 in) at age 18—their...
PMID 36788231. "New Jersey - Baby's First Test - NewbornScreening". babysfirsttest. "NewbornScreening - Use and Storage of Dried Blood Spots after NBS"...
acidemia, but is rarely diagnosed due to slippage through routine newbornscreening, wide symptom variety and, in some cases, symptoms only appearing...
asymptomatic stage of the disease. In 2018, newbornscreening for SMA was added to the US list of recommended newbornscreening tests and as of April 2020 it has...
"Whole-genome sequencing in newbornscreening? A statement on the continued importance of targeted approaches in newbornscreening programmes". European Journal...
mutated gene typically do not have symptoms. Many countries have newbornscreening programs for the disease. Treatment is with a diet that (1) is low...
immunoreactive trypsinogen (IRT) in blood of newborn babies is an assay in rapidly increasing use as a screening test for cystic fibrosis (CF). In CF, there...
Hemolytic disease of the newborn, also known as hemolytic disease of the fetus and newborn, HDN, HDFN, or erythroblastosis fetalis, is an alloimmune condition...
widely used throughout North America and Europe as one of the core newbornscreening tests since the late 1960s. The test was initially a bacterial inhibition...
This phenomenon wreaks havoc with traditional approaches to NewbornScreening so new screening methods are being developed.[citation needed] Clinical examination...
to a wide range of clinical symptoms and largely slipping through newbornscreening programs, CMAMMA is thought to be an under-recognized condition. Because...
research in the role of GJB2 variants in hearing loss may lead to newbornscreening for them. As early intervention is crucial to prevent developmental...
a heel prick from the newborn 24–48 hours after birth and sent to the lab for analysis. In the United States, newbornscreening procedure varies state...
diseases". National Library of Medicine. Retrieved 27 July 2015. "NewbornScreening". MedlinePlus. Retrieved 27 July 2015. "Metabolic Disorders: MedlinePlus"...
prenatal screening. Newbornscreening screens infants a few days after birth to evaluate for evidence of treatable diseases. Most newbornscreening uses tandem...
York, Missouri and Kentucky include Krabbe in the newbornscreening panel. Indiana started screening in 2020. Although there is no known cure for Krabbe...
Galactosemia was the second disorder found to be detectable through newbornscreening methods by Robert Guthrie. Its incidence is about 1 per 60,000 births...
hypothyroidism in newborn babies, to prevent growth and development abnormalities in later life, many countries have newbornscreening programs at birth...
fragmentation of oligonucleotide ions has been proposed. Newbornscreening is the process of testing newborn babies for treatable genetic, endocrinologic, metabolic...
developmental delay. It is the most widely used newbornscreening test worldwide. While TSH-based screening will identify the most common causes, the addition...
partially funded by Sheikh Hassan Enany. In 2005, KSCDR launched the NewbornScreening program in partnership with the Ministry of Health, King Faisal Specialist...
done through standardized newbornscreening tests for a range of congenital diseases, including ADA deficiency. Most newborns with SCID, including those...
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