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)
- The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study.
Märtner E M Charlotte et al. Scientific reports 2021 11(1) 19300
- Immunological Findings and Clinical Outcomes of Infants With Positive Newborn Screening for Severe Combined Immunodeficiency From a Tertiary Care Center in the U.S.
Mantravadi Vasudha et al. Frontiers in immunology 2021 12734096
- Outcomes of early repeat sweat testing in infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome (CRMS)/CF screen-positive, inconclusive diagnosis (CFSPID).
Terlizzi Vito et al. Pediatric pulmonology 2021
- Recommendations for uniform definitions used in newborn screening for severe combined immunodeficiency.
Blom Maartje et al. The Journal of allergy and clinical immunology 2021
- Genetic counseling in the time of COVID-19: The Philippine experience with telegenetics.
Tumulak Ma-Am Joy R et al. Journal of genetic counseling 2021
- BABY STEPS
Sequencing every newborn’s genome to detect diseases faces ethical and practical obstacles, but the United Kingdom is pushing ahead with a major test
J Kaiser, Science, September 23,2021
- Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis.
D'Annibale Olivia M et al. Molecular genetics and metabolism 2021
- Absorbing it all: A meta-ethnography of parents' unfolding experiences of newborn screening.
White Ashley L et al. Social science & medicine (1982) 2021 287114367
- Operational analysis of the national sickle cell screening programme in the Republic of Uganda.
Hernandez Arielle G et al. African journal of laboratory medicine 2021 10(1) 1303
- Challenging the dogma of the healthy heterozygote: Implications for newborn screening policies and practices.
Farrell Philip M et al. Molecular genetics and metabolism 2021
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Disclaimer: Articles listed in the Public Health Genomics and Precision 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.