Literature DB >> 23331496

Current practice and attitudes of Australian obstetricians toward population-based carrier screening for inherited conditions.

Zornitza Stark1, John Massie, Belinda McClaren, Liane Ioannou, Nicole Cousens, Sharon Lewis, Sylvia Metcalfe, Martin B Delatycki.   

Abstract

An anonymous survey of Australian Fellows of the Royal Australian and New Zealand College of Obstetricians and Gynaecologists was conducted with the aim of understanding current practice and attitudes toward population-based carrier screening for inherited conditions in the setting of routine pregnancy care. Of 1,121 Fellows invited to complete the online questionnaire by e-mail, 237 (21%) responded, and of these 156 were practicing obstetricians and completed the whole survey. Of the respondents, 83% expressed support for population-based carrier screening for at least some conditions, with 97% supporting carrier screening for β-thalassaemia, and 83% supporting carrier screening for cystic fibrosis (CF). A small proportion of obstetricians reported offering carrier screening as part of routine pregnancy care (20% for β-thalassaemia, 8% for CF, 5% for fragile X syndrome, and 2% for spinal muscular atrophy). The main practical barriers identified for screening were cost, time constraints, and availability of supporting services. Addressing these issues is crucial for the successful implementation of population-based carrier screening programs in Australia and internationally.

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Year:  2013        PMID: 23331496     DOI: 10.1017/thg.2012.152

Source DB:  PubMed          Journal:  Twin Res Hum Genet        ISSN: 1832-4274            Impact factor:   1.587


  8 in total

1.  Invasive Prenatal Diagnostic Testing Recommendations are Influenced by Maternal Age, Statistical Misconception and Perceived Liability.

Authors:  Talya Miron-Shatz; Sivan R Rapaport; Naama Srebnik; Yaniv Hanoch; Jonina Rabinowitz; Glen M Doniger; Linda Levi; Jonathan J Rolison; Avi Tsafrir
Journal:  J Genet Couns       Date:  2017-06-14       Impact factor: 2.537

Review 2.  A Review on Spinal Muscular Atrophy: Awareness, Knowledge, and Attitudes.

Authors:  Rebecca R Moultrie; Julia Kish-Doto; Holly Peay; Megan A Lewis
Journal:  J Genet Couns       Date:  2016-04-16       Impact factor: 2.537

3.  'No thanks'-reasons why pregnant women declined an offer of cystic fibrosis carrier screening.

Authors:  L Ioannou; J Massie; S Lewis; B McClaren; V Collins; M B Delatycki
Journal:  J Community Genet       Date:  2013-05-29

4.  Attitudes of cystic fibrosis patients and parents toward carrier screening and related reproductive issues.

Authors:  Sandra Janssens; Davit Chokoshvilli; Carmen Binst; Inge Mahieu; Lidewij Henneman; Anne De Paepe; Pascal Borry
Journal:  Eur J Hum Genet       Date:  2015-07-29       Impact factor: 4.246

5.  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

Review 6.  Tay-Sachs disease: current perspectives from Australia.

Authors:  Raelia M Lew; Leslie Burnett; Anné L Proos; Martin B Delatycki
Journal:  Appl Clin Genet       Date:  2015-01-21

7.  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

8.  First French study relative to preconception genetic testing: 1500 general population participants' opinion.

Authors:  Maud Jourdain; Bertrand Isidor; Valérie Bonneau; Mathilde Nizon; Xenia Latypova; Aurélie Gaultier; Eugénie Hoarau; Stéphane Bézieau; Guy Minguet; Mauro Turrini
Journal:  Orphanet J Rare Dis       Date:  2021-03-12       Impact factor: 4.123

  8 in total

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