Birth Defects
What's New
Last Posted: Apr 19, 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 - Using Pharmacogenomics to Better Understand the Role of Selected Medications and Birth Defect Risk
M Jenkins et al, CDC Blog Post, April 12, 2022 - Diagnostic yield of patients with undiagnosed intellectual disability, global developmental delay and multiples congenital anomalies using karyotype, microarray analysis, whole exome sequencing from Central Brazil.
Leite Ana Julia da Cunha et al. PloS one 2022 17(4) e0266493 - Increased runs of homozygosity in the autosomal genome of Brazilian individuals with neurodevelopmental delay/intellectual disability and/or multiple congenital anomalies investigated by chromosomal microarray analysis.
Correia-Costa Gabriela Roldão et al. Genetics and molecular biology 2022 45(1) e20200480 - 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 - Clinical aspects of 22q11.2 microdeletion syndrome
Szumutku Fanni et al. Orvosi hetilap 2022 163(1) 21-30
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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 (355)
- 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 (390)
- Tools/Methods (19)
- 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:Oct 1, 2021
- Page last updated:May 25, 2022
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