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A Spectrum of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT)—Diagnostic Utility of Perinatal Autopsy

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Abstract

Objective

To describe the spectrum of congenital renal anomalies and emphasize the critical role of comprehensive autopsy examination in identifying CAKUT, especially of lower urinary tract malformations correlating with prenatal imaging methods.

Methods

Retrospective analyses of CAKUT diagnosed at fetal autopsy were analyzed over a 7-y period and correlated with prenatal imaging findings.

Result

Among the 255 fetal autopsies, 45 cases were detected with CAKUT. Isolated (27%), syndromic CAKUT (51%), and CAKUT associated with other system anomalies (22%) were found. Hydronephrosis, followed by cystic renal diseases and agenesis were the common renal malformations. The gastrointestinal tract (GIT) was the commonest system associated with CAKUT. Among the syndromic CAKUT, the urorectal septum malformation (URSM) was the most frequent one, followed by VACTER-L, acrorenal syndrome, and OEIS complex. When correlating prenatal USG and autopsy findings, a significant change in final diagnosis was observed in 60% of cases.

Conclusion

Extrarenal malformations and syndromic associations of CAKUT predominated over isolated ones. Detection of lower urinary tract anomalies in CAKUT is difficult through antenatal imaging methods if associated with oligohydramnios. In these circumstances, the perinatal autopsy has a significant role in arriving at the final diagnosis which guides the clinician in predicting the recurrence risk and the need for genetic workup.

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Acknowledgements

The authors express their profound gratitude to Dr Ammu Sivaraman, Emeritus Professor, Department of Pathology for her constant motivation, endurance, and guidance.

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Authors and Affiliations

  1. Department of Pathology, PSG Institute of Medical Sciences and Research, Coimbatore, Tamil Nadu 641004, India

    Nidhya Ganesan, Umamaheswari Gurusamy, Chaitra Venkataswamy & Kavya Sankar

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  1. Nidhya Ganesan
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  2. Umamaheswari Gurusamy
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  3. Chaitra Venkataswamy
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  4. Kavya Sankar
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Contributions

NG, UG, and CV did Study conception and design; NG, UG, KS, and CV performed material preparation, data collection and analysis; NG, UG wrote the first draft of the manuscript and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript. UG will act as the guarantor for this paper.

Corresponding author

Correspondence to Umamaheswari Gurusamy.

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Approval was obtained from the Human Ethics Committee of the Institution. The procedures used in this study adhere to the tenets of the Declaration of Helsinki.

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Ganesan, N., Gurusamy, U., Venkataswamy, C. et al. A Spectrum of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT)—Diagnostic Utility of Perinatal Autopsy. Indian J Pediatr 90, 139–145 (2023). https://doi.org/10.1007/s12098-022-04305-x

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  • DOI: https://doi.org/10.1007/s12098-022-04305-x

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