Carrier Testing
What's New
Last Posted: Jan 18, 2024
- Clinical utility of a genetic diagnosis in individuals with cerebral palsy and related motor disorders.
Alexandra Santana Almansa et al. Ann Clin Transl Neurol 2024 - Parental request for familial carrier testing in early childhood: The genetic counseling perspective.
Sabrina V Southwick et al. Clin Genet 2023 - Performance of single-gene noninvasive prenatal testing for autosomal recessive conditions in a general population setting.
Julia Wynn et al. Prenat Diagn 2023 - The completion of indicated paternal prenatal genetic and carrier testing at a public hospital in Los Angeles, California
MT Nguyen et al, Genet in Med Open, September 2023 - Multilevel barriers and facilitators to widespread use of preconception carrier screening in the United States
LE Hull et al, Genetics in Medicine, July 30, 2023 - Implementing preconception expanded carrier screening in a universal healthcare system: a model-based cost-effectiveness analysis
A Busnelli et al, Genet Med, July 2023 - Consanguineous couples’ experiences and views regarding expanded carrier screening: Barriers and facilitators in the decision-making process
S van der Hout et al, EJHG, June 6, 2023 - Human Genetics Society of Australasia Position Statement: Genetic Carrier Testing for Recessive Conditions.
Danya F Vears et al. Twin Res Hum Genet 2023 1-7 - Barriers to Completion of Expanded Carrier Screening in an Inner City Population.
Tirtza S Strauss et al. Genet Med 100858 - Economic evaluation of population-based expanded reproductive carrier screening for genetic diseases in Australia
D Schofield et al, Genetics in Medicine, February 12, 2023 - Community Genetics screening in a pandemic: solutions for pre-test education, informed consent, and specimen collection.
Terrill Bronwyn et al. European journal of human genetics : EJHG 2023 1 1-5 - Couple screening for recessively inherited disorders.
Sisterna Silvina et al. Journal of medical screening 2022 9691413221137039 - Genetic Counsellors play a key role in supporting ethically responsible expanded universal carrier screening
L Dive et al, EJHG, November 7, 2022 - Psychosocial Issues Related to Newborn Screening: A Systematic Review and Synthesis.
Tluczek Audrey et al. International journal of neonatal screening 2022 8(4) - Societal implications of expanded universal carrier screening: a scoping review
LM van der Heuvel el a, EJHG, September 12, 2022 - 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 - Allele-specific and multiplex PCR based tools for cost-effective and comprehensive genetic testing in Congenital Adrenal Hyperplasia.
Ravichandran Lavanya et al. MethodsX 2022 9101748 - Incorporating patient perspectives in the development of a core outcome set for reproductive genetic carrier screening: a sequential systematic review
E Richardson et al, EJHG, March 28, 2022 - [Increased use of genetic health care in Iceland 2012-2017].
Hognason Hakon Bjorn et al. Laeknabladid 2021 108(1) 11-16 - Evaluating the model of offering expanded genetic carrier screening to high school students within the Sydney Jewish community.
Barlow-Stewart Kristine et al. Journal of community genetics 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
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 Public Health Genomics Branch 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:Feb 1, 2024
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