National Institute of Health and Medical Research (INSERM), UMR 1297, Institute of Metabolic and Cardiovascular Disease, Toulouse, France; University Paul Sabatier, Toulouse III, Toulouse, France.
National Institute of Health and Medical Research (INSERM), UMR 1297, Institute of Metabolic and Cardiovascular Disease, Toulouse, France; University Paul Sabatier, Toulouse III, Toulouse, France; Department of Pediatric Internal Medicine, Rheumatology and Nephrology, Toulouse University Hospital, Toulouse, France; Centre De Référence Des Maladies Rénales Rares du Sud-Ouest (SORARE), Toulouse University Hospital, Toulouse, France.
J Pediatr Urol. 2024 Jun;20(3):492-496. doi: 10.1016/j.jpurol.2024.01.011. Epub 2024 Jan 14.
Today, prenatal diagnosis of congenital urogenital malformations is mostly dependent on anatomical variations found on imaging. However, these findings can mislead us in telling us when to intervene, and about post-natal prognosis. Since many findings are dependent on multiple assessments, delayed diagnosis can occur, leading to less optimal outcomes compared to early intervention. Analyses of fetal urinary biomarkers have been proposed as a method of finding biological changes that are predictive for diagnosis and prognosis in fetuses at risk of kidney disease. We interviewed a group of researchers that have demonstrated that by combining multiple omics traits extracted from fetal urine, the biological variability found in single omics data can be circumvented. By analyzing multiple fetal urine peptides and metabolites at single time point, the prognostic power of postnatal renal outcome in fetuses with lower urinary tract obstruction is significantly increased. In this interview, we inquired about the technical aspects of the tests, challenges, and limitations the research group have come across, and how they envision the future for multi-omics fetal analysis in the clinic.
如今,先天性泌尿生殖系统畸形的产前诊断主要依赖于影像学发现的解剖学变异。然而,这些发现可能会误导我们,告诉我们何时进行干预,以及出生后的预后如何。由于许多发现取决于多次评估,因此可能会出现延迟诊断,导致与早期干预相比,结果不太理想。分析胎儿尿液生物标志物已被提议作为一种寻找生物学变化的方法,这些变化可预测有肾脏疾病风险的胎儿的诊断和预后。我们采访了一组研究人员,他们证明通过结合从胎儿尿液中提取的多种组学特征,可以避免单一组学数据中的生物学变异性。通过分析单个时间点的多个胎儿尿液肽和代谢物,可以显著提高下尿路梗阻胎儿出生后肾脏结局的预后能力。在本次访谈中,我们询问了测试的技术方面、研究小组遇到的挑战和局限性,以及他们如何设想多组学胎儿分析在临床中的未来。