Last Posted: May 18, 2022
- Ethically robust reproductive genetic carrier screening needs to measure outcomes that matter to patients
L Dive et al, EJHG, May 18, 2022
- Reasons affecting the uptake of reproductive genetic carrier screening among nonpregnant reproductive-aged women in Flanders (Belgium).
Van Steijvoort Eva et al. Journal of genetic counseling 2022
- Incorporating patient perspectives in the development of a core outcome set for reproductive genetic carrier screening: a sequential systematic review.
Richardson Ebony et al. European journal of human genetics : EJHG 2022
- Significance of borderline HbA levels in β thalassemia carrier screening.
Colaco Stacy et al. Scientific reports 2022 12(1) 5414
- Current Updates on Expanded Carrier Screening: New Insights in the Omics Era.
Veneruso Iolanda et al. Medicina (Kaunas, Lithuania) 2022 58(3)
- Pathogenic Variant-Based Preconception Carrier Screening in the Israeli Jewish Population.
Davidov Bella et al. Clinical genetics 2022
- Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.
Chau Jeffrey Fong Ting et al. NPJ genomic medicine 2022 7(1) 23
- Reflex single-gene non-invasive prenatal testing is associated with markedly better detection of fetuses affected with single-gene recessive disorders at lower cost.
Riku Shan et al. Journal of medical economics 2022 1-29
- The clinical utility of a risk-modifying SNP to detect carriers for spinal muscular atrophy with increased sensitivity.
Ware Gardenier et al. Molecular genetics & genomic medicine 2022 e1897
- Knowledge, attitudes and preferences regarding reproductive genetic carrier screening among reproductive-aged men and women in Flanders (Belgium).
Van Steijvoort Eva et al. European journal of human genetics : EJHG 2022
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
- COVID-19 (1)
- Human Genome Epidemiologic Studies (99)
- Human Genomics Translation/Implementation Studies (272)
- Genomic Tests Evidence Synthesis (20)
- Genomic Tests Guidelines (18)
- Tier-Classified Guidelines (5)
- State Public Health Genomics Programs (4)
- Reviews/Commentaries (107)
- Tools/Methods (6)
- Ethical/Legal and Social Issues (ELSI) (12)
Common RCH Related Topics
- Attention Deficit/Hyperactivity Disorder
- Birth Defects
- Carrier Testing
- Cerebral Palsy
- Congenital heart defects
- Pregnancy loss
- Developmental Disabilities
- Gestational Diabetes
- Hearing loss
- Neural tube defects
- Infant Mortality
- Learning disability
- Newborn Screening
- Prenatal Testing
- 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.