Literature DB >> 21453058

Cystic fibrosis carrier screening in obstetric clinical practice: knowledge, practices, and barriers, a decade after publication of screening guidelines.

Diana Darcy1, Lu Tian, Joanne Taylor, Iris Schrijver.   

Abstract

PURPOSE: Cystic fibrosis (CF) carrier screening guidelines have been in place for almost a decade. The purpose of this study was to determine the current awareness by obstetricians of the existence and content of practice guidelines, the variety in practice regarding CF carrier screening, and the level of knowledge regarding CF genetics and screening result interpretation. We also explored potential barriers to offering screening and whether academic affiliation or type of practice influenced outcome.
METHODS: An online survey program was used to deliver a questionnaire to obstetricians throughout the United States. One hundred fifty-six respondents participated, with 143 answering all questions in the survey.
RESULTS: Although most obstetricians are aware of screening guidelines and have accurate knowledge about CF carrier screening, 12.3% were not aware of carrier screening guidelines, 17.7% were unable to interpret basic results, 16.5% experienced barriers to offering screening, and 43% lacked information regarding carrier rates, screening sensitivity, and residual risk.
CONCLUSION: Most obstetricians offer CF carrier screening and will refer to genetic counseling services at times. However, we identified a deficiency of information in a concerning percentage of practitioners. This deficiency could be improved by targeted and readily accessible educational efforts, especially for obstetricians not affiliated with academia.

Entities:  

Mesh:

Year:  2011        PMID: 21453058     DOI: 10.1089/gtmb.2010.0228

Source DB:  PubMed          Journal:  Genet Test Mol Biomarkers        ISSN: 1945-0257


  13 in total

1.  Expanded carrier screening panels-does bigger mean better?

Authors:  Sara Wienke; Kimberly Brown; Meagan Farmer; Charlie Strange
Journal:  J Community Genet       Date:  2013-09-24

2.  Creation of a National, At-home Model for Ashkenazi Jewish Carrier Screening.

Authors:  Karen Arnovitz Grinzaid; Patricia Zartman Page; Jessica Johnson Denton; Jessica Ginsberg
Journal:  J Genet Couns       Date:  2014-12-12       Impact factor: 2.537

3.  A theory-informed systematic review of clinicians' genetic testing practices.

Authors:  Jean L Paul; Hanna Leslie; Alison H Trainer; Clara Gaff
Journal:  Eur J Hum Genet       Date:  2018-06-11       Impact factor: 4.246

4.  Attitudes of health care professionals toward carrier screening for cystic fibrosis. A review of the literature.

Authors:  S Janssens; A De Paepe; P Borry
Journal:  J Community Genet       Date:  2012-12-29

5.  The changing landscape of carrier screening: expanding technology and options?.

Authors:  Michelle L McGowan; Deborah Cho; Richard R Sharp
Journal:  Health Matrix Clevel       Date:  2013

6.  Experiences among Women with Positive Prenatal Expanded Carrier Screening Results.

Authors:  Erin Rothwell; Erin Johnson; Amber Mathiesen; Kylie Golden; Audrey Metcalf; Nancy C Rose; Jeffrey R Botkin
Journal:  J Genet Couns       Date:  2016-10-29       Impact factor: 2.537

7.  Evaluation of a novel electronic genetic screening and clinical decision support tool in prenatal clinical settings.

Authors:  Emily A Edelman; Bruce K Lin; Teresa Doksum; Brian Drohan; Vaughn Edelson; Siobhan M Dolan; Kevin Hughes; James O'Leary; Lisa Vasquez; Sara Copeland; Shelley L Galvin; Nicole DeGroat; Setul Pardanani; W Gregory Feero; Claire Adams; Renee Jones; Joan Scott
Journal:  Matern Child Health J       Date:  2014-07

8.  Health practitioners' perceptions of the barriers and enablers to the implementation of reproductive genetic carrier screening: A systematic review.

Authors:  Stephanie Best; Janet Long; Tahlia Theodorou; Sarah Hatem; Rebecca Lake; Alison Archibald; Lucinda Freeman; Jeffrey Braithwaite
Journal:  Prenat Diagn       Date:  2021-03-05       Impact factor: 3.050

9.  Responsible implementation of expanded carrier screening.

Authors:  Lidewij Henneman; Pascal Borry; Davit Chokoshvili; Martina C Cornel; Carla G van El; Francesca Forzano; Alison Hall; Heidi C Howard; Sandra Janssens; Hülya Kayserili; Phillis Lakeman; Anneke Lucassen; Sylvia A Metcalfe; Lovro Vidmar; Guido de Wert; Wybo J Dondorp; Borut Peterlin
Journal:  Eur J Hum Genet       Date:  2016-03-16       Impact factor: 4.246

10.  The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.

Authors:  Anne Girardet; Victoria Viart; Stéphanie Plaza; Gemma Daina; Martine De Rycke; Marie Des Georges; Francesco Fiorentino; Gary Harton; Aliya Ishmukhametova; Joaquima Navarro; Caroline Raynal; Pamela Renwick; Florielle Saguet; Martin Schwarz; Sioban SenGupta; Maria Tzetis; Anne-Françoise Roux; Mireille Claustres
Journal:  Eur J Hum Genet       Date:  2015-05-27       Impact factor: 4.246

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