Literature DB >> 29428288

Ethnicity-Based Carrier Screening.

Jennifer R King1, Susan Klugman2.   

Abstract

Ethnicity-based carrier screening for single-gene disorders is an integral part of preconception and prenatal care. The role of ethnicity-based carrier screening has expanded over time with advancing technology. Patients and providers should understand the benefits and limitations of their screening options and engage in appropriate pretest and posttest counseling. The future management of single-gene disorders is changing and a time may be approaching when ethnicity-based carrier screening will be replaced with expanded carrier screening.
Copyright © 2017 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Autosomal recessive; Carrier screening; Ethnicity; Preconception

Mesh：

Year:  2018        PMID： 29428288     DOI： 10.1016/j.ogc.2017.10.010

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


  4 in total

1.  Pathogenic variants carrier screening in New Brunswick: Acadians reveal high carrier frequency for multiple genetic disorders.

Authors:  Philippe Pierre Robichaud; Eric P Allain; Sarah Belbraouet; Claude Bhérer; Jean Mamelona; Jason Harquail; Stéphanie Crapoulet; Nicolas Crapoulet; Mathieu Bélanger; Mouna Ben Amor
Journal:  BMC Med Genomics       Date:  2022-04-29       Impact factor: 3.622

2.  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

Review 3.  The future of cystic fibrosis care: a global perspective.

Authors:  Scott C Bell; Marcus A Mall; Hector Gutierrez; Milan Macek; Susan Madge; Jane C Davies; Pierre-Régis Burgel; Elizabeth Tullis; Claudio Castaños; Carlo Castellani; Catherine A Byrnes; Fiona Cathcart; Sanjay H Chotirmall; Rebecca Cosgriff; Irmgard Eichler; Isabelle Fajac; Christopher H Goss; Pavel Drevinek; Philip M Farrell; Anna M Gravelle; Trudy Havermans; Nicole Mayer-Hamblett; Nataliya Kashirskaya; Eitan Kerem; Joseph L Mathew; Edward F McKone; Lutz Naehrlich; Samya Z Nasr; Gabriela R Oates; Ciaran O'Neill; Ulrike Pypops; Karen S Raraigh; Steven M Rowe; Kevin W Southern; Sheila Sivam; Anne L Stephenson; Marco Zampoli; Felix Ratjen
Journal:  Lancet Respir Med       Date:  2019-09-27       Impact factor: 30.700

4.  Evaluating the model of offering expanded genetic carrier screening to high school students within the Sydney Jewish community.

Authors:  Kristine Barlow-Stewart; Kayley Bardsley; Elle Elan; Jane Fleming; Yemima Berman; Ron Fleischer; Krista Recsei; Daniel Goldberg; John Tucker; Leslie Burnett
Journal:  J Community Genet       Date:  2021-11-30
  4 in total

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