Newborn screening has become an integral part of the evaluation of more than 4 million newborns a year in the United States and of most newborns in industrialized countries and many in developing countries. Because the term "newborn screening" refers to many procedures performed in a nursery such as screening for hearing loss or congenital heart disease, this discussion is limited to screening for genetic or congenital disorders with blood spotted on filter paper cards. This discussion reflects primarily the experiences and current status of NBS programs in the United States.
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http://dx.doi.org/10.1016/j.pcl.2009.03.002 | DOI Listing |
Acta Med Philipp
December 2024
Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila.
Background: As social media continue to grow as popular and convenient tools for acquiring and disseminating health information, the need to investigate its utilization by laypersons encountering common medical issues becomes increasingly essential.
Objectives: This study aimed to analyze the content posted in Facebook groups for Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency and how these engage the members of the group.
Methods: This study employed an inductive content analysis of user-posted content in both public and private Facebook groups catering specifically to G6PD deficiency.
Background: Cardiovascular diseases are the primary cause of nonobstetric morbidity and mortality in pregnant women worldwide. Pakistan's high maternal and neonatal mortality rates underscore the need for effective screening protocols to detect cardiovascular diseases during pregnancy.
Objectives: The objective of this study was to assess the prevalence and factors associated with structural heart disease among pregnant women without active cardiorespiratory symptoms (no symptoms or symptoms attributed to pregnancy) attending routine antenatal appointments.
Mol Genet Metab Rep
March 2025
Department of Pediatrics, University of Iowa, Iowa City, IA, USA.
Background: Immediately after birth, adaptation to the extrauterine environment includes an upregulation of fatty acid catabolism. Cystic fibrosis and untreated hypothyroidism exert a life-long impact on fatty acid metabolism, but their influence during this transitional period is unknown. Children and adults with cystic fibrosis exhibit unbalanced fatty acid composition, most prominently a relative deficit of linoleic acid.
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March 2025
Newborn Screening Center, Xuzhou Maternity and Child Health Care Hospital, Xuzhou, China.
Background: Very long-chain acyl-coenzyme A dehydrogenase deficiency (VLCADD) is a rare autosomal recessive disease associated with variants in the gene.
Methods: In December 2021, a neonate with VLCADD was identified via newborn screening in Xuzhou, China. Genetic testing and genetic family verification were performed via high-throughput sequencing combined with Sanger sequencing.
Front Child Adolesc Psychiatry
January 2024
Department of Paediatrics I, Neonatology, Paediatric Intensive Care, Paediatric Neurology, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.
Background And Aims: Close autonomic emotional connections with others help infants reach and maintain homoeostasis. In recent years, infant regulatory problems (RPs, i.e.
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