Prenatal chromosome microarray: ‘The UK experience’. A survey of reporting practices in UK genetic services (2012–2019)

Background The value of chromosome microarray (CMA) in the prenatal detection of significant chromosome anomalies is well‐established. To guide the introduction of this technique in routine clinical practice, the Joint Committee on Genomics in Medicine developed national UK guidelines for reporting...

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Bibliographic Details
Published in:Prenatal diagnosis Vol. 41; no. 6; pp. 661 - 667
Main Authors: Patterson, Jenny, Wellesley, Diana, Morgan, Sian, Cilliers, Deirdre, Allen, Stephanie, Gardiner, Carol A
Format: Journal Article
Language:English
Published: England Wiley Subscription Services, Inc 01.05.2021
Subjects:
Adult
Anomalies
Chromosomes
Chromosomes - genetics
Copy number
Diagnostic systems
Female
Genetic Testing - methods
Genetic Testing - statistics & numerical data
Genetics
Humans
Polls & surveys
Pregnancy
Prenatal Diagnosis - methods
Surveys and Questionnaires
Tissue Array Analysis - methods
Tissue Array Analysis - statistics & numerical data
United Kingdom
United Kingdom
United Kingdom > UK
ISSN:0197-3851, 1097-0223, 1097-0223
Online Access:Get full text
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Summary:Background The value of chromosome microarray (CMA) in the prenatal detection of significant chromosome anomalies is well‐established. To guide the introduction of this technique in routine clinical practice, the Joint Committee on Genomics in Medicine developed national UK guidelines for reporting prenatal CMA in 2015. Objective To evaluate the UK experience of utilising prenatal CMA. Method A 36‐item survey was distributed to all UK clinical genetics services (n = 23) in March 2019 requesting information pertaining to experience since diagnostic testing commenced and current practice (March 2018 to March 2019). Results Eighteen UK genetics services currently offer prenatal CMA. A total of 14,554 tests had been performed. A pathogenic copy number variant was identified in 7.8% of tests overall, though the diagnostic rate increased to 8.4% in the final year of the survey. Variants of uncertain significance (VUS) were reported in 0.7% of tests, and ‘actionable’ incidental findings in 0.12%. Conclusion Diagnostic rate has improved over time, while reporting of VUS has decreased. Reviewing survey responses at a national level highlights variation in testing experience and practice, raising considerations both for future guideline development and implementation of other novel techniques including prenatal whole exome sequencing. Key Points What's already known about this topic? Clinical utility of chromosome microarray (CMA) is well established in current prenatal genetic diagnosis, with a trend over time towards improving diagnostic yield What does this study add? This study collates the total UK experience of prenatal CMA since implementation, confirming a favourable diagnostic yield versus low rates of incidental or ambiguous results in the largest sample yet reported. Data also highlight areas for future development of clinical guidance
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ISSN:0197-3851
1097-0223
1097-0223
DOI:10.1002/pd.5944