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RCH PHGKB

Specific PHGKB|Reproductive and Child Health PHGKB|PHGKB
Last Posted: Sep 17, 2021
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Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing
CL van Eyk et al, NPJ Genomic Medicine, September 16, 2021

Despite increasing evidence for a major contribution of genetics to CP aetiology, genetic testing is currently not performed systematically. We assessed the diagnostic rate of genome sequencing (GS) in a clinically unselected cohort of 150 singleton CP patients, with CP confirmed at >4 years of age. Clinical grade GS was performed on the proband and variants were filtered, and classified according to American College of Medical Genetics and Genomics–Association for Molecular Pathology (ACMG-AMP) guidelines. Variants classified as pathogenic or likely pathogenic (P/LP) were further assessed for their contribution to CP. In total, 24.7% of individuals carried a P/LP variant(s) causing or increasing risk of CP, with 4.7% resolved by copy number variant analysis and 20% carrying single nucleotide or indel variants.

Muscular Dystrophy
CDC, 2021

Muscular dystrophies are a group of genetic disorders that result in muscle weakness over time. Each type of muscular dystrophy is different from the others. It is important to get help as early as possible. Muscular dystrophy has no cure, but acting early may help an individual with muscular dystrophy get the services and treatments he or she needs to lead a full life.

Health Equity and Genetic Disorders
CDC, August 2021

Public health efforts to achieve health equity need to include people with genetic disorders. Thousands of inherited genetic disorders affect millions of people in the United States. Genetic disorders include both single-gene disorders, such as cystic fibrosis and sickle cell disease, and conditions that make people more likely to develop common chronic diseases, such as hereditary breast and ovarian cancer syndrome, Lynch syndrome, and familial hypercholesterolemia.

Talking to Patients with Intellectual and Developmental Disabilities about COVID-19 Vaccination- Tips for Healthcare Providers & Clinical Staff
CDC, August 2021

There are an estimated 7.38 million people with intellectual and developmental disabilities in the United States. When you’re talking with patients who have intellectual and developmental disabilities, it’s especially important to make sure your message about COVID-19 vaccination is simple and clear. People with ID/DDs may: Have limited mobility; Difficulty accessing information; Require close contact with a care provider; Have trouble understanding information; Have difficulties with changes in routines; Have other concerns related to their disability.


news Latest News and Publications
(Lack of) knowledge of mothers about sickle cell trait and disease: a qualitative study. External Web Site Icon
Rocha Rafael et al. Revista brasileira de enfermagem 2021 75(1) e20201217
[Current developments in hemostatic treatment for patients with hemophilia]. External Web Site Icon
Nogami Keiji et al. [Rinsho ketsueki] The Japanese journal of clinical hematology 2021 62(8) 1213-1221
[Treating inherited bone marrow failure syndromes and primary immunodeficiency diseases]. External Web Site Icon
Ishimura Masataka et al. [Rinsho ketsueki] The Japanese journal of clinical hematology 2021 62(8) 1327-1333
A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships. External Web Site Icon
Houston Brendan J et al. Human reproduction update 2021
A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis. External Web Site Icon
Fung Jasmine L F et al. NPJ genomic medicine 2021 5(1) 37
A two-year prospective study assessing the performance of fetal chromosomal microarray analysis and next-generation sequencing in high-risk pregnancies. External Web Site Icon
Ridnõi Konstantin et al. Molecular genetics & genomic medicine 2021 e1787
Challenging the dogma of the healthy heterozygote: Implications for newborn screening policies and practices. External Web Site Icon
Farrell Philip M et al. Molecular genetics and metabolism 2021
Clinical Utility of Rapid Exome Sequencing Combined With Mitochondrial DNA Sequencing in Critically Ill Pediatric Patients With Suspected Genetic Disorders. External Web Site Icon
Ouyang Xuejun et al. Frontiers in genetics 2021 12725259
Cost-effectiveness Analysis of Genotype-Specific Surveillance and Preventive Strategies for Gynecologic Cancers Among Women With Lynch Syndrome. External Web Site Icon
Wright Jason D et al. JAMA network open 2021 4(9) e2123616
Development and evaluation of a machine learning-based point-of-care screening tool for genetic syndromes in children: a multinational retrospective study. External Web Site Icon
Porras Antonio R et al. The Lancet. Digital health 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

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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.

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