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Peer-reviewedCC BYPediatric Nephrology

Prenatal body fluid analysis in the evaluation of CAKUT

Abstract

Congenital anomalies of the kidney and urinary tract (CAKUT) are the leading cause of chronic kidney disease in children. Although prenatal ultrasound enables early detection, its ability to predict postnatal renal outcome, particularly in bilateral cases, remains limited due to substantial phenotypic variability and the inability of imaging to capture ongoing disease processes. Genetic testing improves etiological classification but shows weak genotype-phenotype correlations and limited prognostic value, reflecting the multifactorial nature of CAKUT and prompting investigation of molecular biomarkers in prenatal body fluids. This review summarizes current prenatal prognostic strategies in CAKUT, including imaging, genetics, and downstream molecular approaches such as transcriptomics, metabolomics, and proteomics, with particular emphasis on peptide-based profiling. Among these, prenatal peptide signatures derived from fetal urine or amniotic fluid have demonstrated strong prognostic performance for predicting postnatal renal outcome and may capture early molecular processes related to tissue remodeling and inflammation. However, translation into clinical practice remains challenging. Validation requires large prospective multicenter studies that are difficult to conduct in rare diseases and often lack sustained funding. In addition, implementation will likely rely on mass spectrometry-based assays in clinical laboratories. Despite these hurdles, integrating molecular peptide profiling with improved and standardized imaging approaches may enhance prenatal counselling and clinical decision-making in CAKUT.

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BibTeX
@article{simon2026prenatal,
  title = {{Prenatal body fluid analysis in the evaluation of CAKUT}},
  author = {Thomas Simon and Bénédicte Buffin-Meyer and Julie Klein and Stéphane Decramer and Joost Schanstra},
  journal = {Pediatric Nephrology},
  year = {2026},
  month = jun,
  doi = {10.1007/s00467-026-07375-7},
  url = {https://hal.science/hal-05834553v1},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - Prenatal body fluid analysis in the evaluation of CAKUT
AU  - Thomas Simon
AU  - Bénédicte Buffin-Meyer
AU  - Julie Klein
AU  - Stéphane Decramer
AU  - Joost Schanstra
PY  - 2026
DA  - 2026/06/05
JO  - Pediatric Nephrology
DO  - 10.1007/s00467-026-07375-7
UR  - https://hal.science/hal-05834553v1
AB  - Congenital anomalies of the kidney and urinary tract (CAKUT) are the leading cause of chronic kidney disease in children. Although prenatal ultrasound enables early detection, its ability to predict postnatal renal outcome, particularly in bilateral cases, remains limited due to substantial phenotypic variability and the inability of imaging to capture ongoing disease processes. Genetic testing improves etiological classification but shows weak genotype-phenotype correlations and limited prognostic value, reflecting the multifactorial nature of CAKUT and prompting investigation of molecular biomarkers in prenatal body fluids. This review summarizes current prenatal prognostic strategies in CAKUT, including imaging, genetics, and downstream molecular approaches such as transcriptomics, metabolomics, and proteomics, with particular emphasis on peptide-based profiling. Among these, prenatal peptide signatures derived from fetal urine or amniotic fluid have demonstrated strong prognostic performance for predicting postnatal renal outcome and may capture early molecular processes related to tissue remodeling and inflammation. However, translation into clinical practice remains challenging. Validation requires large prospective multicenter studies that are difficult to conduct in rare diseases and often lack sustained funding. In addition, implementation will likely rely on mass spectrometry-based assays in clinical laboratories. Despite these hurdles, integrating molecular peptide profiling with improved and standardized imaging approaches may enhance prenatal counselling and clinical decision-making in CAKUT.
SN  - 0931-041X
SN  - 1432-198X
ER  -