Abstract
Background
The objective of our study was to examine the risk for submicroscopic chromosomal aberrations among fetuses with apparently isolated solitary kidney.
Methods
Data acquisition was performed retrospectively by searching Israeli Ministry of Health-computerized database. All cases having chromosomal microarray analysis (CMA), referred because of an indication of isolated unilateral kidney agenesis between January 2013 and September 2016, were included. Rate of clinically significant CMA findings in these pregnancies was compared to pregnancies with normal ultrasound, based on a systematic review encompassing 9,792 cases and local data of 5,541 pregnancies undergoing CMA because of maternal request.
Results
Of the 81 pregnancies with isolated solitary kidney, 2 (2.47%) loss-of-copy number variants compatible with well-described deletion syndromes were reported (16p11.2–16p12.2 and 22q11.21 microdeletion syndromes). In addition, one variant of unknown significance was demonstrated. The relative risk for pathogenic CMA findings among pregnancies with isolated unilateral renal agenesis was not significantly different compared with the control population.
Conclusion
CMA analysis in pregnancies with unilateral renal agenesis might still be useful, to the same degree as it can be in the general population.
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Acknowledgements
We are grateful to all Israeli genetic counselors and laboratory workers engaged in prenatal evaluation of fetal malformations, who made this study possible.
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Sagi-Dain, L., Maya, I., Peleg, A. et al. Microarray analysis in pregnancies with isolated unilateral kidney agenesis. Pediatr Res 83, 825–828 (2018). https://doi.org/10.1038/pr.2018.3
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DOI: https://doi.org/10.1038/pr.2018.3
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