Literature DB >> 29428278

Expanded Carrier Screening.

Anthony R Gregg1.   

Abstract

Prenatal carrier screening has expanded to include a larger number of genes and variants offered to all couples considering or with an ongoing pregnancy. Panethnic screening for cystic fibrosis and spinal muscular atrophy and screening for a limited number of conditions based on ethnicity are recommended by the American College of Obstetricians and Gynecologists. Residual risk calculations have become an obsolete part of posttest counseling when expanded carrier screening (ECS) is selected. The Perception of Uncertainties in Genome Sequencing scale offers a useful understanding of the pretest and posttest counseling concerns that should be considered as part of ECS implementation.
Copyright © 2017 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Expanded carrier screening; Genetic counseling; Perceptions of Uncertainties in Genome Sequencing (PUGS) scale; Prenatal carrier screening

Mesh:

Year:  2018        PMID: 29428278     DOI: 10.1016/j.ogc.2017.10.005

Source DB:  PubMed          Journal:  Obstet Gynecol Clin North Am        ISSN: 0889-8545            Impact factor:   2.844


  3 in total

1.  Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data.

Authors:  Simon Easteal; Ruth M Arkell; Renzo F Balboa; Shayne A Bellingham; Alex D Brown; Tom Calma; Matthew C Cook; Megan Davis; Hugh J S Dawkins; Marcel E Dinger; Michael S Dobbie; Ashley Farlow; Kylie G Gwynne; Azure Hermes; Wendy E Hoy; Misty R Jenkins; Simon H Jiang; Warren Kaplan; Stephen Leslie; Bastien Llamas; Graham J Mann; Brendan J McMorran; Rebekah E McWhirter; Cliff J Meldrum; Shivashankar H Nagaraj; Saul J Newman; Jack S Nunn; Lyndon Ormond-Parker; Neil J Orr; Devashi Paliwal; Hardip R Patel; Glenn Pearson; Greg R Pratt; Boe Rambaldini; Lynette W Russell; Ravi Savarirayan; Matthew Silcocks; John C Skinner; Yassine Souilmi; Carola G Vinuesa; Gareth Baynam
Journal:  Am J Hum Genet       Date:  2020-08-06       Impact factor: 11.025

2.  A data-driven evaluation of the size and content of expanded carrier screening panels.

Authors:  Rotem Ben-Shachar; Ashley Svenson; James D Goldberg; Dale Muzzey
Journal:  Genet Med       Date:  2019-02-28       Impact factor: 8.822

3.  Lessons learned from expanded reproductive carrier screening in self-reported Ashkenazi, Sephardi, and Mizrahi Jewish patients.

Authors:  Gidon Akler; Ashley H Birch; Nicole Schreiber-Agus; Xiaoqiang Cai; Guiqing Cai; Lisong Shi; Chunli Yu; Anastasia M Larmore; Geetu Mendiratta-Vij; Lama Elkhoury; Mitchell W Dillon; Jun Zhu; Andrew S Mclellan; Funda E Suer; Bryn D Webb; Eric E Schadt; Ruth Kornreich; Lisa Edelmann
Journal:  Mol Genet Genomic Med       Date:  2019-12-27       Impact factor: 2.183

  3 in total

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