Microarray-based comparative genomic hybridization analysis in neonates with congenital anomalies: detection of chromosomal imbalances
Journal Title: Jornal de Pediatria - Year 2015, Vol 91, Issue 1
Abstract
Objective To identify chromosomal imbalances by whole-genome microarray-based comparative genomic hybridization (array-CGH) in DNA samples of neonates with congenital anomalies of unknown cause from a birth defects monitoring program at a public maternity hospital. Methods A blind genomic analysis was performed retrospectively in 35 stored DNA samples of neonates born between July of 2011 and December of 2012. All potential DNA copy number variations detected (CNVs) were matched with those reported in public genomic databases, and their clinical significance was evaluated. Results Out of a total of 35 samples tested, 13 genomic imbalances were detected in 12/35 cases (34.3%). In 4/35 cases (11.4%), chromosomal imbalances could be defined as pathogenic; in 5/35 (14.3%) cases, DNA CNVs of uncertain clinical significance were identified; and in 4/35 cases (11.4%), normal variants were detected. Among the four cases with results considered causally related to the clinical findings, two of the four (50%) showed causative alterations already associated with well-defined microdeletion syndromes. In two of the four samples (50%), the chromosomal imbalances found, although predicted as pathogenic, had not been previously associated with recognized clinical entities. Conclusions Array-CGH analysis allowed for a higher rate of detection of chromosomal anomalies, and this determination is especially valuable in neonates with congenital anomalies of unknown etiology, or in cases in which karyotype results cannot be obtained. Moreover, although the interpretation of the results must be refined, this method is a robust and precise tool that can be used in the first-line investigation of congenital anomalies, and should be considered for prospective/retrospective analyses of DNA samples by birth defect monitoring programs.
Authors and Affiliations
Mariluce Riegel
Keywords
Related Articles
- EP ID EP561133
- DOI 10.1016/j.jped.2014.05.007
- Views 88
- Downloads 0
One-year adolescent bone mineral density and bone formation marker changes through the use or lack of use of combined hormonal contraceptives
Objective The objective of this study was to evaluate the effects of two low-dose combined oral contraceptives on bone metabolism in adolescents for one year. Methods This was a quasi-experimental study. The adolescents...
Glucose alteration and insulin resistance in asymptomatic obese children and adolescents
Objective Obesity is associated with the abnormal glucose metabolism preceding type 2 diabetes mellitus. Thus, further investigation on the prediction of this lethal outcome must be sought. The objective was the profile...
Factors related to the association of social anxiety disorder and alcohol use among adolescents: a systematic review
Objective To identify the risk factors related to the association between social anxiety disorder and alcohol use in adolescents. Source of data The PICO research strategy was used to perform a systematic review in Medl...
Study of the profile of behavioral problems and quality of life indexes in a pediatric cohort of monosymptomatic enuresis
Objective To evaluate and correlate, before and after the therapeutic intervention, the behavioral problem scores evaluated by the CBCL/6-18 questionnaire and the quality of life indexes evaluated by the PedsQL™ 4.0 in p...
Translation and validation of the Brazilian version of the Cerebral Palsy Quality of Life Questionnaire for Children – child report
Objective To verify the psychometric properties of the Cerebral Palsy: Quality of Life Questionnaire Children – child report (CPQol-Child) questionnaire, after it was translated and culturally adapted into Brazilian Port...