Sonner, Sarah, Reilly, Kelly, Woolf, Adrian S., Chandler, Natalie, Kilby, Mark D., Maher, Eamonn R., Flanagan, Cheryl, McKnight, Amy Jayne and Mone, Fionnuala (2024). When should we offer antenatal sequencing for urinary tract malformations? A systematic review, cohort study and meta-analysis. Prenatal diagnosis, 44 (2), pp. 187-195.
Abstract
OBJECTIVE: Determine the incremental yield of prenatal exome sequencing (PES) over chromosome microarray (CMA) and/or karyotype for urinary tract malformations (UTMs). METHOD: A prospective cohort study encompassing data from the English Genomic Medicine Service North Thames Laboratory Hub for fetuses with bilateral echogenic kidneys (BEKs) was combined with data from a systematic review. MEDLINE, EMBASE, Web of Science, MedRxiv and GreyLit were searched from 01/2010-02/2023 for studies reporting on the yield of PES over CMA or karyotype in fetuses with UTMs. Pooled incremental yield was determined using a random effects model. PROSPERO CRD42023364544. RESULTS: Fourteen studies (410 cases) were included. The incremental yield for multisystem UTMs, any isolated UTMs, and BEKs was 31% [95% CI, 18%-46%; I2 = 78%], 16% [95% CI, 6%-26%; I2 = 80%] and 51% [95% CI, 27%-75%; I2 = 34%]. The most common clinical diseases and syndromes identified, based on the variant genes detected, were Bardet-Biedl syndrome (BBS genes), dominant and recessive polycystic kidney diseases (PKD1, PKD2 and PKHD1) and renal cysts and diabetes syndrome (HNF1B). CONCLUSION: There was a notable incremental genetic diagnostic yield when PES was applied to multisystem UTMs and BEKs. There was a modest incremental yield when this technique was used for UTMs other than BEKs.
Publication DOI: | https://doi.org/10.1002/pd.6479 |
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Divisions: | College of Health & Life Sciences > Aston Medical School |
Funding Information: | The authors thank the Rapid fetal exomes sequencing, Bioinformatics team and the Translational research teams at North Thames Genomic Laboratory Hub. The work described here was partially funded by the NIHR Biomedical Research Centre at the Great Ormond S |
Additional Information: | Copyright © 2023 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes. |
Uncontrolled Keywords: | Cohort Studies,Female,Humans,Karyotyping,Kidney/diagnostic imaging,Polycystic Kidney Diseases,Pregnancy,Prospective Studies |
Publication ISSN: | 1097-0223 |
Last Modified: | 23 Dec 2024 08:58 |
Date Deposited: | 03 Jan 2024 16:52 |
Full Text Link: | |
Related URLs: |
http://www.scop ... tnerID=8YFLogxK
(Scopus URL) https://obgyn.o ... 10.1002/pd.6479 (Publisher URL) |
PURE Output Type: | Review article |
Published Date: | 2024-02 |
Published Online Date: | 2023-12-06 |
Accepted Date: | 2023-11-20 |
Authors: |
Sonner, Sarah
Reilly, Kelly Woolf, Adrian S. Chandler, Natalie Kilby, Mark D. Maher, Eamonn R. Flanagan, Cheryl McKnight, Amy Jayne Mone, Fionnuala |