Congenital Anomalies of the Kidney and the Urinary Tract during pregnancy, genotype-phenotype correlations

The objective of this case report study is to unravel the genotype-phenotype correlations in a number of pregnancies during which a renal or urinary tract malformation, either isolated or together with other congenital abnormalities, was identified at routine prenatal US screening. The data concerning this kind of malformation encompass a time lapse of three years (2015-2018) and 20 cases, for which some kind of genetic investigation was requested, have been taken into consideration. The genetic analysis methods applied were Array-CGH and Next generation sequencing, the choice to use one, the other or both depended on the clinical presentation of fetuses. A definitive genetic diagnosis was obtained for a limited number of the cases considered, thus underlying the importance of further research in the complex field of CAKUT (Congenital Abnormalities of Kidney and Urinary Tract), as well as the importance of publicly reporting any new case for which a causative genetic alteration is identified.

Anomalie congenite dei reni e del tratto urinario durante la gravidanza, correlazioni genotipo-fenotipo.