Birth Defects
What's New
Last Posted: Dec 06, 2022
- High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations
RB Deloge et al, EJHG, December 6, 2022 - Analysis results of 579 cases of genomic copy number variation sequencing of pregnant women in prenatal diagnosis.
Huang L-L et al. European review for medical and pharmacological sciences 2022 26(20) 7572-7579 - Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy.
Sakamoto Masamune et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 10 - 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 - 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 - Using Pharmacogenomics to Better Understand the Role of Selected Medications and Birth Defect Risk
M Jenkins et al, CDC Blog Post, April 12, 2022 - Factors associated with maternal consent for use of residual newborn bloodspots in the National Birth Defects Prevention Study.
Wong Eugene C et al. Birth defects research 2022 - Precision Public Health in Action: New CDC Pilot Projects Integrating Human Genomics into Public Health Surveillance and Applied Research
M Clyne et al, CDC Blog Post, February 14, 2022 - Using Innovative Machine Learning Methods to Screen and Identify Predictors of Congenital Heart Diseases.
Qu Yanji et al. Frontiers in cardiovascular medicine 2022 8797002 - Children with genetic conditions in the United States: Prevalence estimates from the 2016-2017 National Survey of Children's Health.
Lichstein Jesse et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021 12 - Awareness of Birth Defects Across the Lifespan
CDC, January 3, 2022 - Genomics elucidates both common and rare disease aetiology
A McNeil, EJHG, November 26, 2021 - Catalogue for Transmission Genetics in Arabs (CTGA) Database: Analysing Lebanese Data on Genetic Disorders.
Bizzari Sami et al. Genes 2021 12(10) - Genetics of diaphragmatic hernia.
Schreiner Yannick et al. European journal of human genetics : EJHG 2021 10 - Perinatal health predictors using artificial intelligence: A review.
Ramakrishnan Rema et al. Women's health (London, England) 2021 1717455065211046132 - Clinical trials in skeletal dysplasia: a paradigm for treating rare diseases.
Sabir Ataf et al. British medical bulletin 2021
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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 (4)
- COVID-19 (2)
- CDC Publications (25)
- Human Genome Epidemiologic Studies (370)
- GWAS Studies (12)
- Human Genomics Translation/Implementation Studies (288)
- Genomic Tests Evidence Synthesis (33)
- Genomic Tests Guidelines (26)
- Tier-Classified Guidelines (11)
- Non-Genomics Precision Health (7)
- Pathogen Advanced Molecular Detection (1)
- State Public Health Genomics Programs (47)
- Reviews/Commentaries (362)
- Tools/Methods (20)
- Ethical/Legal and Social Issues (ELSI) (4)
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:Dec 07, 2022
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