Newborn Screening
What's New
Last Posted: Oct 14, 2021
- Combining First and Second-Tier Newborn Screening in a Single Assay Using High-Throughput Chip-Based Capillary Electrophoresis Coupled to High-Resolution Mass Spectrometry.
Austin Pickens C et al. Clinical chemistry 2021 - Health care practitioners' experience-based opinions on providing care after a positive newborn screen for Pompe disease.
Davids Laura et al. Molecular genetics and metabolism 2021 - Ontario Newborn Screening for Spinal Muscular Atrophy: The First Year.
Kernohan Kristin D et al. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2021 1-7 - Sweat testing in the modern era: A national survey of sweat testing practice in the Republic of Ireland.
Maguire Barrie et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2021 - Design and Validation of a Custom NGS Panel Targeting a Set of Lysosomal Storage Diseases Candidate for NBS Applications.
La Cognata Valentina et al. International journal of molecular sciences 2021 22(18) - Economic Evaluation of Different Screening Strategies for Severe Combined Immunodeficiency Based on Real-Life Data.
van den Akker-van Marle M Elske et al. International journal of neonatal screening 2021 7(3) - Editorial: Newborn Screening for Inborn Errors of Metabolism: Is It Time for a Globalized Perspective Based on Genetic Screening?
Elmonem Mohamed A et al. Frontiers in genetics 2021 12758142 - Evaluation of newborn screening for severe combined immunodeficiency (SCID).
Nightingale Rebecca et al. The British journal of general practice : the journal of the Royal College of General Practitioners 2021 71(711) 456-457 - Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydrogenase Deficiency-A Retrospective Nationwide Study.
Rücklová Kristina et al. Nutrients 2021 13(9) - Nationwide Newborn Screening Program for Mucopolysaccharidoses in Taiwan and an Update of the "Gold Standard" Criteria Required to Make a Confirmatory Diagnosis.
Chuang Chih-Kuang et al. Diagnostics (Basel, Switzerland) 2021 11(9)
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About RCH PHGKB
Reproductive and Child Health PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other materials that address the translation of genomic and other precision health discoveries into improved health care and prevention related to reproductive and child Health...more
Content Summary
- CDC Information (21)
- NIH Information (2)
- COVID-19 (5)
- CDC Publications (29)
- Human Genome Epidemiologic Studies (210)
- GWAS Studies (1)
- Human Genomics Translation/Implementation Studies (779)
- Genomic Tests Evidence Synthesis (106)
- Genomic Tests Guidelines (37)
- Tier-Classified Guidelines (8)
- Non-Genomics Precision Health (2)
- Pathogen Advanced Molecular Detection (2)
- State Public Health Genomics Programs (85)
- Reviews/Commentaries (461)
- Tools/Methods (19)
- Ethical/Legal and Social Issues (ELSI) (36)
Common RCH Related Topics
- Attention Deficit/Hyperactivity Disorder
- Autism
- Birth Defects
- Carrier Testing
- Cerebral Palsy
- Congenital heart defects
- Pregnancy loss
- Developmental Disabilities
- Gestational Diabetes
- Hearing loss
- Neural tube defects
- Infant Mortality
- Infertility
- Learning disability
- Newborn Screening
- Preeclampsia
- Prematurity
- Prenatal Testing
- Stillbirth
- Sudden Infant Death Syndrome
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Oct 1, 2021
- Page last updated:Oct 19, 2021
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