Newborn Screening Disorders

Common Name(s)

Newborn Screening Disorders

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Newborn Screening Disorders" for support, advocacy or research.

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Newborn Screening Disorders" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Newborn Screening Disorders" returned 22 free, full-text research articles on human participants. First 3 results:

Newborn screening of metabolic disorders.
 

Author(s): Maria Arélin, Skadi Beblo

Journal: J. Pediatr. Endocrinol. Metab.. 2016 Jan;29(1):1-3.

 

Last Updated: 13 Jan 2016

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Diagnostic applications of newborn screening for α-thalassaemias, haemoglobins E and H disorders using isoelectric focusing on dry blood spots.
 

Author(s): Punyanuch Jindatanmanusan, Suchada Riolueang, Waraporn Glomglao, Yaowapa Sukontharangsri, Sangkae Chamnanvanakij, Kitti Torcharus, Vip Viprakasit

Journal: Ann. Clin. Biochem.. 2014 Mar;51(Pt 2):237-47.

 

Neonatal screening for haemoglobin (Hb) disorders is a standard of care in several developed countries with the main objective to detect Hb S. Such practice has not been established in Thailand where α-thalassaemia and haemoglobin E (Hb E) are highly prevalent. Early identification ...

Last Updated: 7 Feb 2014

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[Prevalence of disorders detected by newborn screening in Santa Catarina].
 

Author(s): Adriana Kleist Clark Nunes, Regiane Gutjahr Wachholz, Marina R M Rover, Liliete Canes Souza

Journal: Arq Bras Endocrinol Metabol. 2013 Jul;57(5):360-7.

 

To evaluate the prevalence of the diseases phenylketonuria (PKU), congenital hypothyroidism (CH), cystic fibrosis (CF), hemoglobinopathies (HB), and congenital adrenal hyperplasia (CAH), in the state of Santa Catarina, in order to delineate the local population profile for these diseases.

Last Updated: 30 Jul 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Newborn Screening Disorders" returned 5 free, full-text review articles on human participants. First 3 results:

Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.
 

Author(s): Martina Huemer, Viktor Kožich, Piero Rinaldo, Matthias R Baumgartner, Begoña Merinero, Elisabetta Pasquini, Antonia Ribes, Henk J Blom

Journal: J. Inherit. Metab. Dis.. 2015 Nov;38(6):1007-19.

 

Newborn screening (NBS) is justified if early intervention is effective in a disorder generally not detected early in life on a clinical basis, and if sensitive and specific biochemical markers exist. Experience with NBS for homocystinurias and methylation disorders is limited. However, ...

Last Updated: 30 Oct 2015

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Newborn screening for lysosomal storage disorders and other neuronopathic conditions.
 

Author(s): Dietrich Matern, Devin Oglesbee, Silvia Tortorelli

Journal: Dev Disabil Res Rev. 2013 ;17(3):247-53.

 

Newborn screening (NBS) is a public health program aimed at identifying treatable conditions in presymptomatic newborns to avoid premature mortality, morbidity, and disabilities. Currently, every newborn in the Unites States is screened for at least 29 conditions where evidence suggests ...

Last Updated: 26 Jun 2013

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The case for newborn screening for severe combined immunodeficiency and related disorders.
 

Author(s): Jennifer M Puck

Journal: Ann. N. Y. Acad. Sci.. 2011 Dec;1246():108-17.

 

Early detection of primary immunodeficiency is recognized as important for avoiding infectious complications that compromise outcomes. In particular, severe combined immunodeficiency (SCID) is fatal in infancy unless affected infants can be diagnosed before the onset of devastating ...

Last Updated: 12 Jan 2012

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 26 Oct 2016

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Neonatal Screening of Severe Combined Immunodeficiencies
 

Status: Not yet recruiting

Condition Summary: Severe Combined Immunodeficiency; Neonatal Screening

 

Last Updated: 27 Oct 2015

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Genomic Sequencing for Childhood Risk and Newborn Illness
 

Status: Recruiting

Condition Summary: Hereditary Disease; Genetic Predisposition to Disease

 

Last Updated: 25 Oct 2015

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