Journal article

Dealing with uncertain results from chromosomal microarray and exome sequencing in the prenatal setting: An international cross-sectional study with healthcare professionals

Celine Lewis, Jennifer Hammond, Jasmijn E Klapwijk, Eleanor Harding, Stina Lou, Ida Vogel, Emma J Szepe, Lisa Hui, Charlotta Ingvoldstad-Malmgren, Maria J Soller, Kelly E Ormond, Mahesh Choolani, Melissa Hill, Sam Riedijk

Prenatal Diagnosis | WILEY | Published : 2021


OBJECTIVES: 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 ..

View full abstract


Awarded by Wellcome Trust

Funding Acknowledgements

Wellcome Trust, Grant/Award Number: 211288/Z/18/Z