The evolving landscape of expanded carrier screening: challenges and opportunities
Carrier screening allows individuals to learn their chance of passing on an autosomal or X-
linked condition to their offspring. Initially introduced as single-disease, ancestry-based …
linked condition to their offspring. Initially introduced as single-disease, ancestry-based …
Recent developments in genetics and medically-assisted reproduction: from research to clinical applications
Two leading European professional societies, the European Society of Human Genetics and
the European Society for Human Reproduction and Embryology, have worked together …
the European Society for Human Reproduction and Embryology, have worked together …
Feasibility of couple-based expanded carrier screening offered by general practitioners
Expanded carrier screening (ECS) aims to inform couples' reproductive choice, preferably
before conception. As part of an implementation study in which trained general practitioners …
before conception. As part of an implementation study in which trained general practitioners …
The more you do it, the easier it gets: using behaviour change theory to support health care professionals offering reproductive genetic carrier screening
Recent advances in genomic sequencing have improved the accessibility of reproductive
genetic carrier screening (RGCS). As awareness and interest grows, non-genetic health …
genetic carrier screening (RGCS). As awareness and interest grows, non-genetic health …
Current updates on expanded carrier screening: new insights in the omics era
Genetic carrier screening has been successfully used over the last decades to identify
individuals at risk of transmitting specific DNA variants to their newborns, thus having an …
individuals at risk of transmitting specific DNA variants to their newborns, thus having an …
Health practitioners' perceptions of the barriers and enablers to the implementation of reproductive genetic carrier screening: A systematic review
Background As interest in reproductive genetic carrier screening rises, with increased
availability, the role of healthcare practitioners is central in guiding uptake aligned with a …
availability, the role of healthcare practitioners is central in guiding uptake aligned with a …
[HTML][HTML] The views of people with a lived experience of deafness and the general public regarding genetic testing for deafness in the reproductive setting: A systematic …
Purpose Genes associated with nonsyndromic hearing loss are commonly included in
reproductive carrier screening panels, which are now routinely offered in preconception and …
reproductive carrier screening panels, which are now routinely offered in preconception and …
Stakeholder perspectives on the implementation of genetic carrier screening in a changing landscape
KCA Holtkamp, EM Vos, T Rigter, P Lakeman… - BMC Health Services …, 2017 - Springer
Background In most countries, genetic carrier screening is neither offered, nor embedded in
mainstream healthcare. Technological developments have triggered a two-fold transition in …
mainstream healthcare. Technological developments have triggered a two-fold transition in …
The uptake of pan‐ethnic expanded carrier screening is higher when offered during preconception or early prenatal genetic counseling
D Larsen, J Ma, M Strassberg… - Prenatal …, 2019 - Wiley Online Library
Objective To examine factors that influence uptake of expanded carrier screening (ECS)
among women undergoing preconception and prenatal genetic counseling. Methods We …
among women undergoing preconception and prenatal genetic counseling. Methods We …
Expanded carrier screening: a current survey of physician utilization and attitudes
A Briggs, PK Nouri, M Galloway, K O'Leary… - Journal of Assisted …, 2018 - Springer
Purpose Expanded carrier screening (ECS) is an available component of preconception and
prenatal care. There is complexity around offering, administering, and following-up test …
prenatal care. There is complexity around offering, administering, and following-up test …