Please use this identifier to cite or link to this item: https://doi.org/10.1002/pd.5932
DC FieldValue
dc.titleDealing with uncertain results from chromosomal microarray and exome sequencing in the prenatal setting: An international cross-sectional study with healthcare professionals
dc.contributor.authorLewis, Celine
dc.contributor.authorHammond, Jennifer
dc.contributor.authorKlapwijk, Jasmijn E.
dc.contributor.authorHarding, Eleanor
dc.contributor.authorLou, Stina
dc.contributor.authorVogel, Ida
dc.contributor.authorSzepe, Emma J.
dc.contributor.authorHui, Lisa
dc.contributor.authorIngvoldstad-Malmgren, Charlotta
dc.contributor.authorSoller, Maria J.
dc.contributor.authorOrmond, Kelly E.
dc.contributor.authorChoolani, Mahesh
dc.contributor.authorHill, Melissa
dc.contributor.authorRiedijk, Sam
dc.date.accessioned2022-10-13T01:19:34Z
dc.date.available2022-10-13T01:19:34Z
dc.date.issued2021-03-30
dc.identifier.citationLewis, Celine, Hammond, Jennifer, Klapwijk, Jasmijn E., Harding, Eleanor, Lou, Stina, Vogel, Ida, Szepe, Emma J., Hui, Lisa, Ingvoldstad-Malmgren, Charlotta, Soller, Maria J., Ormond, Kelly E., Choolani, Mahesh, Hill, Melissa, Riedijk, Sam (2021-03-30). Dealing with uncertain results from chromosomal microarray and exome sequencing in the prenatal setting: An international cross-sectional study with healthcare professionals. Prenatal Diagnosis 41 (6) : 720-732. ScholarBank@NUS Repository. https://doi.org/10.1002/pd.5932
dc.identifier.issn0197-3851
dc.identifier.urihttps://scholarbank.nus.edu.sg/handle/10635/232931
dc.description.abstractObjectives: To conduct qualitative interviews with healthcare providers working in different countries to understand their experiences of dealing with uncertain results from prenatal chromosome microarray analysis (CMA) and exome sequencing (ES). Methods: Semi-structured interviews with 31 healthcare providers who report or return prenatal CMA and/or ES results (clinicians, genetic counsellors and clinical scientists) in six countries with differing healthcare systems; Australia (4), Denmark (5), Netherlands (6), Singapore (4), Sweden (6) and United Kingdom (6). The topic guide explored the main sources of uncertainty and their management. Results: There was variation in reporting practices both between and across countries for variants of uncertain significance, however, there was broad agreement on reporting practices for incidental findings. There was also variation in who decides what results are reported (clinical scientists or clinicians). Technical limitations and lack of knowledge (to classify variants and of prenatal phenotypes) were significant challenges, as were turnaround times and lack of guidelines. Conclusion: Health professionals around the globe are dealing with similar sources of uncertainty, but managing them in different ways, Continued dialogue with international colleagues on ways of managing uncertain results is important to compare and contrast the benefits and limitations of the different approaches. © 2021 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd.
dc.publisherJohn Wiley and Sons Ltd
dc.rightsAttribution 4.0 International
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.sourceScopus OA2021
dc.typeArticle
dc.contributor.departmentOBSTETRICS & GYNAECOLOGY
dc.description.doi10.1002/pd.5932
dc.description.sourcetitlePrenatal Diagnosis
dc.description.volume41
dc.description.issue6
dc.description.page720-732
Appears in Collections:Elements
Staff Publications

Show simple item record
Files in This Item:
File Description SizeFormatAccess SettingsVersion 
10_1002_pd_5932.pdf308.77 kBAdobe PDF

OPEN

NoneView/Download

Google ScholarTM

Check

Altmetric


This item is licensed under a Creative Commons License Creative Commons