Peer-Reviewed Publication
Prenat Diagn2024;44(6-7):821-831.June 1, 2024Systematic Review
The incremental yield of prenatal exome sequencing over chromosome microarray for congenital heart abnormalities: A systematic review and meta-analysis.
K Reilly1, S Sonner1, N McCay2, D L Rolnik3, F Casey2,4, A N Seale5,6, C J Watson4, A Kan7, T H T Lai7, B H Y Chung8, K E M Diderich9, M I Srebniak9, E Dempsey10,11, S Drury12, J Giordano13,14, R Wapner13,14, M D Kilby15,16,17, L S Chitty18,19, F Mone1
1Centre for Public Health, Queens University Belfast, Belfast, UK.
2Department of Paediatric Cardiology, Royal Belfast Hospital for Sick Children, Belfast, UK.
3Department of Obstetrics and Gynaecology, Monash University, Melbourne, Victoria, Australia.
4Wellcome-Wolfson Institute for Experimental Medicine, Queen's University Belfast, Belfast, UK.
5Department of Paediatric Cardiology, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
6Institute of Cardiovascular Science, University of Birmingham, Birmingham, UK.
7Department of Obstetrics and Gynaecology, Queen Mary Hospital, Hong Kong, China.
8Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, China.
9Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
10South West Thames Regional Genetics Service, London, UK.
11School of Biological and Molecular Sciences, St George's University of London, London, UK.
12Congenica Ltd, Biodata Innovation Centre, Wellcome Trust Genome Campus, Hinxton, UK.
13Institute for Genomic Medicine, Columbia University Medical Center, New York, New York, USA.
14Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Columbia University Medical Center, New York, New York, USA.
15Fetal Medicine Center, Birmingham Women's & Children's Foundation Trust, Birmingham, UK.
16College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.
17Medical Genomics Research Group, Illumina, Cambridge, UK.
18Great Ormond Street NHS Foundation Trust, London, UK.
19UCL Great Ormond Street Institute of Child Health, London, UK.
Abstract
OBJECTIVES: To determine the incremental yield of prenatal exome sequencing (PES) over standard testing in fetuses with an isolated congenital heart abnormality (CHA), CHA associated with extra-cardiac malformations (ECMs) and CHA dependent upon anatomical subclassification.
METHODS: A systematic review of the literature was performed using MEDLINE, EMBASE, Web of Science and grey literature Janu…
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