Carrier Testing
What's New
Last Posted: Sep 27, 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) - Prenatal genetic testing 1: screening tests.
Jenkins Morgan et al. Current opinion in pediatrics 2022 - Societal implications of expanded universal carrier screening: a scoping review
LM van der Heuvel el a, EJHG, September 12, 2022 - Outcomes of Importance to Patients in Reproductive Genetic Carrier Screening: A Qualitative Study to Inform a Core Outcome Set.
Richardson Ebony et al. Journal of personalized medicine 2022 12(8) - Duchenne expert physician perspectives on Duchenne newborn screening and early Duchenne care.
Armstrong Niki et al. American journal of medical genetics. Part C, Seminars in medical genetics 2022 - Genetic counseling and carrier screening in candidates for gamete donation at a Portuguese center.
Soares Célia Azevedo et al. JBRA assisted reproduction 2022 - Exploring informed choice in preconception reproductive genetic carrier screening by using a modified Multidimensional Measure of Informed Choice.
Van Steijvoort Eva et al. Patient education and counseling 2022 - Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders.
Boonsawat Paranchai et al. NPJ genomic medicine 2022 7 (1) 45 - Combined Preimplantation Genetic Testing for Genetic Kidney Disease: Genetic Risk Identification, Assisted Reproductive Cycle, and Pregnancy Outcome Analysis.
Xiao Min et al. Frontiers in medicine 2022 9936578 - Factors associated with US and Canadian genetic counselors' testing decisions during pregnancy.
Isaacs Alexandra E et al. Journal of genetic counseling 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
- COVID-19 (1)
- Human Genome Epidemiologic Studies (99)
- Human Genomics Translation/Implementation Studies (285)
- Genomic Tests Evidence Synthesis (21)
- Genomic Tests Guidelines (19)
- Tier-Classified Guidelines (5)
- State Public Health Genomics Programs (4)
- Reviews/Commentaries (108)
- Tools/Methods (6)
- Ethical/Legal and Social Issues (ELSI) (12)
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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