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The Indian Journal of Pediatrics, 2004
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 ...
Shaik Mohammad Naushad +1 more
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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 ...
Shaik Mohammad Naushad +1 more
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Advances in Neonatal Care, 2004
Metabolic disorders are individually rare, but when considered together as a disease entity are relatively frequent, occurring in 1 in 1000 to 1 in 3000 infants. Some disorders can have devastating and irreversible outcomes if not diagnosed early and treated promptly.
Nicola Longo +3 more
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Metabolic disorders are individually rare, but when considered together as a disease entity are relatively frequent, occurring in 1 in 1000 to 1 in 3000 infants. Some disorders can have devastating and irreversible outcomes if not diagnosed early and treated promptly.
Nicola Longo +3 more
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Archives of Pediatrics & Adolescent Medicine, 1982
Sir .—In their article "Newborn Thyroid Screening in a Municipal Hospital" (Journal1982;136:248-250), Harris and Dreyfus pointed out the following problems that arise from the process of recall of newborns with abnormal screening results: the cost of recall of patients in the overall program, the anxiety for individual families, and the success rate in
J. P. Farriaux, Jean Louis Dhondt
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Sir .—In their article "Newborn Thyroid Screening in a Municipal Hospital" (Journal1982;136:248-250), Harris and Dreyfus pointed out the following problems that arise from the process of recall of newborns with abnormal screening results: the cost of recall of patients in the overall program, the anxiety for individual families, and the success rate in
J. P. Farriaux, Jean Louis Dhondt
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Genomic newborn screening for rare diseases
Nature reviews genetics, 2023Zornitza Stark, R. Scott
semanticscholar +1 more source
Genetic Testing, 2003
Newborn screening aims at the earliest possible recognition of disorders so that intervention with effective treatment can prevent the most serious consequences of the disorder. However, of several thousand known genetic disorders, therapy is presently available for only a small proportion of them. Newborn screening was first applied to phenylketonuria
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Newborn screening aims at the earliest possible recognition of disorders so that intervention with effective treatment can prevent the most serious consequences of the disorder. However, of several thousand known genetic disorders, therapy is presently available for only a small proportion of them. Newborn screening was first applied to phenylketonuria
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The Importance of Newborn Screening
Pediatrics, 2000To the Editor. The commentary by Howse and Katz1 commendably calls for equity in access to newborn screening tests and uniform quality of those tests. However, they miss the mark in downplaying economic and cost-benefit considerations and in stating that “a test (even for a rare disease)—as long [as] its early discovery makes a difference to the ...
Jennifer L. Howse, Michael Katz
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Pediatric Annals, 2003
The advent of expanded newborn screening has resulted in huge advances in the ability to detect presymptomatic infants with a large number of inborn errors of metabolism. Widespread implementation of this type of screening will ultimately lead to reduced mortality and morbidity from these diseases and also will increase our knowledge of the frequency ...
Deborah Marsden, Marsha K Fearing
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The advent of expanded newborn screening has resulted in huge advances in the ability to detect presymptomatic infants with a large number of inborn errors of metabolism. Widespread implementation of this type of screening will ultimately lead to reduced mortality and morbidity from these diseases and also will increase our knowledge of the frequency ...
Deborah Marsden, Marsha K Fearing
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Religion and Newborn Screening
The American Journal of Bioethics, 2016Hom and colleagues (2016) argue in favor of allowing religious exemptions to congenital critical heart disease (CCHD) newborn screening, but the logic of their position is at odds with the moral ju...
Richard H. Dees, Jennifer M. Kwon
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Screening Newborns for Hemoglobinopathies
JAMA: The Journal of the American Medical Association, 1988To the Editor. —The recent CONSENSUS CONFERENCE report on newborn screening for hemoglobinopathies 1 skipped one potential screening strategy, namely, prenatal maternal hemoglobin electrophoresis. If the mother has hemoglobin AA, there is no way the newborn could inherit any serious hemoglobinopathy.
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Newborn screening for neuroblastoma
Current Opinion in Pediatrics, 1997Following favorable reports of infant screening for neuroblastoma, mass screening was introduced throughout Japan in 1985. Since then, reports from Japan, North America, and Europe have all confirmed that screening is associated with substantial overdiagnosis.
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