Newborn Screening
What's New
Last Posted: Sep 29, 2022
- dbRUSP: An Interactive Database to Investigate Inborn Metabolic Differences for Improved Genetic Disease Screening.
Peng Gang et al. International journal of neonatal screening 2022 8(3) - Developing an Online Dashboard to Visualize Performance Data-Tennessee Newborn Screening Experience.
Lechner Charles et al. International journal of neonatal screening 2022 8(3) - Newborn screening and the recommended uniform screening panel: Optimal submissions and suggested improvements based on an advocacy organization's decade-long experience.
Ellinwood N Matthew et al. American journal of medical genetics. Part C, Seminars in medical genetics 2022 - Population-based screening of newborns: Findings from the newborn screening expansion study (part two).
Chan Kee et al. Frontiers in genetics 2022 13867354 - Long-term outcomes of very early treated infantile-onset Pompe disease with short-term steroid premedication: experiences from a nationwide newborn screening programme.
Yang Chia-Feng et al. Journal of medical genetics 2022 - Recommendations for Interpreting and Reporting Silent Carrier and Disease-Modifying Variants in SMA Testing Workflows.
Milligan John N et al. Genes 2022 13(9) - Diverse Parental Perspectives of the Social and Educational Needs for Expanding Newborn Screening through Genomic Sequencing
GT Timmins et al, Public Health Genomics, September 2022 - Newborn screening for propionic, methylmalonic acidemia and vitamin B12 deficiency. Analysis of 588,793 newborns.
Martín-Rivada Álvaro et al. Journal of pediatric endocrinology & metabolism : JPEM 2022 - Newborn screening research sponsored by the NIH: From diagnostic paradigms to precision therapeutics.
Minear Mollie A et al. American journal of medical genetics. Part C, Seminars in medical genetics 2022 - Proximal urea cycle defects are challenging to detect with newborn screening: Results of a prospective pilot study using post-analytical tools.
Hall Patricia Liane et al. American journal of medical genetics. Part C, Seminars in medical genetics 2022
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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 (25)
- NIH Information (2)
- COVID-19 (5)
- CDC Publications (34)
- Human Genome Epidemiologic Studies (213)
- GWAS Studies (1)
- Human Genomics Translation/Implementation Studies (885)
- Genomic Tests Evidence Synthesis (112)
- Genomic Tests Guidelines (40)
- Tier-Classified Guidelines (8)
- Non-Genomics Precision Health (2)
- Pathogen Advanced Molecular Detection (2)
- State Public Health Genomics Programs (85)
- Reviews/Commentaries (506)
- Tools/Methods (24)
- Ethical/Legal and Social Issues (ELSI) (38)
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:Jul 25, 2022
- Page last updated:Oct 01, 2022
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