Newborn screening for biliary atresia in the United States

2017 ◽  
Vol 33 (12) ◽  
pp. 1315-1318 ◽  
Author(s):  
Cat Goodhue ◽  
Michael Fenlon ◽  
Kasper S. Wang
Keyword(s):  
United States ◽  
Newborn Screening ◽  
Biliary Atresia ◽  
The United States

Donors for Liver Transplantation

PEDIATRICS ◽  
1983 ◽  
Vol 71 (5) ◽  
pp. 856-857
Author(s):  
THOMAS E. STARZL ◽  
THOMAS R. HAKALA ◽  
J. THOMAS ROSENTHAL ◽  
DON DENNY
Keyword(s):  
United States ◽  
Liver Transplantation ◽  
Biliary Atresia ◽  
Inborn Errors Of Metabolism ◽  
The United States ◽  
Good Evidence ◽  
Full Potential ◽  
Inborn Errors ◽  
Infancy And Childhood ◽  
Liver Replacement

There is good evidence that the decade of the 1980s will witness an expansion of efforts to transplant extrarenal organs. This will have a profound effect in pediatrics, and particularly in the field of hepatology. The number of infants born with biliary atresia is not known with certainty, but it is likely that there are approximately 500 new cases each year in the United States. The number of lethal hepatic based inborn errors of metabolism that can be effectively treated with liver replacement has steadily grown. Other acquired hepatic disorders are not uncommon in infancy and childhood. If transplantation of the liver (or of the kidney, heart, intestine, pancreas, and possibly other organs) is to reach its full potential, pediatricians will have to be more acutely aware of the need for organs, and will need to collaborate actively in the procurement process.

scholarly journals Newborn Screening for Congenital Adrenal Hyperplasia: Review of Factors Affecting Screening Accuracy

2020 ◽  
Vol 6 (3) ◽  
pp. 67 ◽  
Author(s):  
Patrice K. Held ◽  
Ian M. Bird ◽  
Natasha L. Heather
Keyword(s):  
United States ◽  
Congenital Adrenal Hyperplasia ◽  
Newborn Screening ◽  
False Positive ◽  
Primary Care Physicians ◽  
The United States ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
21 Hydroxylase Deficiency ◽  
Screening Accuracy

Newborn screening for 21-hydroxylase deficiency (21OHD), the most common form of congenital adrenal hyperplasia, has been performed routinely in the United States and other countries for over 20 years. Screening provides the opportunity for early detection and treatment of patients with 21OHD, preventing salt-wasting crisis during the first weeks of life. However, current first-tier screening methodologies lack specificity, leading to a large number of false positive cases, and adequate sensitivity to detect all cases of classic 21OHD that would benefit from treatment. This review summarizes the pathology of 21OHD and also the key stages of fetal hypothalamic-pituitary-adrenal axis development and adrenal steroidogenesis that contribute to limitations in screening accuracy. Factors leading to both false positive and false negative results are highlighted, along with specimen collection best practices used by laboratories in the United States and worldwide. This comprehensive review provides context and insight into the limitations of newborn screening for 21OHD for laboratorians, primary care physicians, and endocrinologists.

scholarly journals Newborn Screening for SCD in the USA and Canada

2018 ◽  
Vol 4 (4) ◽  
pp. 36 ◽  
Author(s):  
Nura El-Haj ◽  
Carolyn Hoppe
Keyword(s):  
United States ◽  
Newborn Screening ◽  
The United States ◽  
Historical Background ◽  
Current Status ◽  
The Usa ◽  
Abnormal Hemoglobin ◽  
Hb S ◽  
Laboratory Procedures ◽  
Canadian Provinces

Sickle cell disease (SCD) encompasses a group of inherited red cell disorders characterized by an abnormal hemoglobin, Hb S. The most common forms of SCD in the United States and Canada are identified through universal newborn screening (NBS) programs. Now carried out in all fifty U.S. states and 8 Canadian provinces, NBS for SCD represents one of the major public health advances in North America. The current status of NBS programs for hemoglobinopathies and the screening techniques employed in many regions worldwide reflect in large part the U.S. and Canadian experiences. Although the structure, screening algorithms and laboratory procedures, as well as reporting and follow up, vary between NBS programs, the overall workflow is similar. The current review summarized the historical background, current approaches, and methods used to screen newborns for SCD in the United States and Canada.

scholarly journals Erythrocyte uridine diphosphate galactose-4-epimerase deficiency identified by newborn screening for galactosemia in the United States

Screening ◽  
1993 ◽  
Vol 2 (4) ◽  
pp. 179-186 ◽  
Author(s):  
Won G. Ng ◽  
Yan-Kang Xu ◽  
Tina M. Cowan ◽  
Miriam G. Blitzer ◽  
Richard J. Allen ◽  
...  
Keyword(s):  
United States ◽  
Newborn Screening ◽  
The United States ◽  
Uridine Diphosphate ◽  
Uridine Diphosphate Galactose

scholarly journals Epidemiology of Mucopolysaccharidoses (MPS) in the United States: A Need for Newborn Screening

2019 ◽  
Vol 2 (1) ◽  
Author(s):  
Puckett Yana ◽  
Pham Theophilus ◽  
Bui Eileen ◽  
Turner Laurie ◽  
Zelicoff Alan
Keyword(s):  
United States ◽  
Newborn Screening ◽  
The United States
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