Talk:Neonatal Diagnosis

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Cite this page: Hill, M.A. (2021, December 1) Embryology Neonatal Diagnosis. Retrieved from

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Note - This sub-heading shows an automated computer PubMed search using the listed sub-heading term. References appear in this list based upon the date of the actual page viewing. Therefore the list of references do not reflect any editorial selection of material based on content or relevance. In comparison, references listed on the content page and discussion page (under the publication year sub-headings) do include editorial selection based upon relevance and availability. (More? Pubmed Most Recent)

Neonatal Diagnosis

<pubmed limit=5>Neonatal Diagnosis</pubmed>

Guthrie Test

<pubmed limit=5>Guthrie Test</pubmed>


Screening for spinal muscular atrophy

Sampaio H, Wilcken B & Farrar M. (2018). Screening for spinal muscular atrophy. Med. J. Aust. , 209, 147-148. PMID: 30107765

Med J Aust. 2018 Aug 20;209(4):147-148.

Sampaio H1, Wilcken B2, Farrar M2. Author information KEYWORDS: Neuromuscular diseases PMID: 30107765


Pediatr Neurol. 2017 Dec;77:12-22. doi: 10.1016/j.pediatrneurol.2017.08.012. Epub 2017 Aug 25. A Historical and Current Review of Newborn Screening for Neuromuscular Disorders From Around the World: Lessons for the United States. Ross LF1, Clarke AJ2. Author information Abstract BACKGROUND: We aimed to review the history of newborn screening for three neuromuscular disorders (Duchenne muscular dystrophy, Pompe disease, and spinal muscular atrophy [SMA]) to determine best practices. METHODS: The history of newborn screening for Duchenne muscular dystrophy began in 1975 with the measurement of creatinine kinase on newborn male blood spots from two Midwestern hospitals in the United States. Over the next 40 years, ten programs were implemented around the globe although none currently remain. The first experimental pilot program for Pompe disease began in 2005 in Taiwan. In 2013, Missouri was the first US state to implement Pompe newborn screening before its inclusion in the Recommended Uniform Screening Panel (RUSP) in 2015 by the Advisory Committee on Heritable Disorders in Newborns and Children (United States). In 2008, SMA was reviewed and rejected for inclusion in the RUSP because no treatment existed. With the approval of nusinersen in late 2016, spinal muscular atrophy is being reconsidered for the RUSP. RESULTS: A condition should meet public health screening criteria to be included in the RUSP. Duchenne muscular dystrophy, Pompe, and SMA challenge traditional screening criteria: Duchenne muscular dystrophy does not present in infancy and lacks effective treatment; Pompe and SMA may not present until adulthood; and safety and efficacy of long-term intrathecal treatment for SMA is unknown. Potential reproductive benefit and improved research recruitment do not justify a public health screening program. CONCLUSIONS: This review provides lessons that could benefit US public health departments as they consider expanding screening to include neuromuscular disorders like Duchenne muscular dystrophy, Pompe, and SMA. Copyright © 2017 Elsevier Inc. All rights reserved. KEYWORDS: Duchenne muscular dystrophy; Pompe disease; consent; ethics; newborn screening; spinal muscular atrophy PMID: 29079012 DOI: 10.1016/j.pediatrneurol.2017.08.012



Cystic fibrosis newborn screening

Com G. J Ark Med Soc. 2010 Mar;106(9):210-2. Review. PMID: 20337169

Cystic fibrosis (CF) is a life-threatening autosomal recessive disease and affects about 1 in 3500 newborns in the United States. In the last decade, advances to detect the disease include development of newborn screening. CF newborn screening is a complex process and diagnosing a newborn with CF sometimes can be challenging even for an expert. In this article, we briefly discuss the pathogenesis of cystic fibrosis followed by a discussion of the need to conduct newborn screening and the screening algorithm. Finally, healthcare providers are directed to contact information to learn more about diagnosing and treating cystic fibrosis in Arkansas. Cystic fibrosis is the result of a mutant gene located on chromosome 7; the gene product is named cystic fibrosis transmembrane conductance regulator (CFTR). CFTR is located in the apical membranes of most of the cell lines and responsible for chloride ion conduction. In addition, CFTR influences the expression of several other gene products.

Lung maturation: the survival miracle of very low birth weight infants

Jobe AH. Pediatr Neonatol. 2010 Feb;51(1):7-13. Review. PMID: 20225532