aCGH en la consulta de neuropediatríasignificado clínico e implicación pronóstica

Abstract

Background: aCGH is a molecular method utilized for detecting chromosomal alterations or copy number variations. aCGH has emerged as a premier diagnostic tool for investigating the genetic underpinnings of neurodevelopmental disorders. The aim of this study was to construct a database derived from aCGH analysis, facilitating systematic comparisons with prior studies and enabling periodic evaluations of its clinical relevance. Patients and methods: a descriptive retrospective study was conducted to analyze the results obtained from aCGH analyses requested for patients at a second-level hospital neuropediatric clinic, spanning from November 2016 to March 2020. A total of 365 aCGH studies were reviewed. Subsequently, genomic variants identified were cross-referenced with information available in relevant repositories and databases, aiming to construct a dedicated database comprising the identified variants. This database served the purpose of evaluating potential changes in their clinical significance over the study period. Results: the most prevalent reasons for study were language delay (38.36%), autism spectrum disorders (27.95%), and learning difficulties (18.08%). Normal results were obtained in 74% of analyses. Pathogenic CNVs were initially detected in 5.48% of cases, of which 4 were reclassified after further examination (3 as benign and 1 as a VOUS). Uncertain significance variants were found in 10.4% of studies, with the majority being reclassified subsequently, resulting in a total of 10 patients with VOUS (2.7%) by the study's conclusion. Benign variants were present in 10.68% of cases, while aneuploidies were detected in 1.64%. No reclassifications were performed in these subgroups.