Birth Defects
What's New
Last Posted: Sep 30, 2022
- Reduced resource utilization with early use of next-generation sequencing in rare genetic diseases in an Asian cohort.
Nazeha Nuraini et al. American journal of medical genetics. Part A 2022 - Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil.
Krepischi Ana C V et al. Scientific reports 2022 12(1) 15184 - Investigation of Genetic Causes in Patients with Congenital Heart Disease in Qatar: Findings from the Sidra Cardiac Registry.
Okashah Sarah et al. Genes 2022 13(8) - CHDbase: A comprehensive knowledgebase for congenital heart disease-related genes and clinical manifestations.
Zhou Wei-Zhen et al. Genomics, proteomics & bioinformatics 2022 - Chromosome 2q12.3-q13 copy number variants in patients with neurodevelopmental disorders: genotype-phenotype correlation and new hotspots.
Aarabi Mahmoud et al. Psychiatric genetics 2022 - Find a Genetic Clinic
ACMG, 2022 - Carrier detection probabilities for autosomal recessive variants in unrelated and consanguineous couples - an evaluation of the 86 genes of the ACMG 'Tier 3' panel.
Schmidtke Jörg et al. Journal of community genetics 2022 - Critical Appraisal of Droplet Digital Polymerase Chain Reaction (ddPCR) Application for Non-Invasive Prenatal testing.
Shekhawat Dolat Singh et al. Congenital anomalies 2022 - Health economic evaluation of noninvasive prenatal testing and serum screening for down syndrome.
Xiao Gefei et al. PloS one 2022 17(4) e0266718 - Clinical Utility of Genetic Testing in the Precision Diagnosis and Management of Pediatric Patients with Kidney and Urinary Tract Diseases.
Bekheirnia Nasim et al. Kidney360 2022 2(1) 90-104
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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 (26)
- NIH Information (6)
- COVID-19 (6)
- CDC Publications (25)
- Human Genome Epidemiologic Studies (479)
- GWAS Studies (12)
- Human Genomics Translation/Implementation Studies (360)
- Genomic Tests Evidence Synthesis (38)
- Genomic Tests Guidelines (30)
- Tier-Classified Guidelines (12)
- Non-Genomics Precision Health (11)
- Pathogen Advanced Molecular Detection (1)
- State Public Health Genomics Programs (47)
- Reviews/Commentaries (391)
- Tools/Methods (20)
- Ethical/Legal and Social Issues (ELSI) (5)
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 03, 2022
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