Prenatal diagnosis: the clinical usefulness of array comparative genomic hybridization.
Porto Biomed J
; 3(2): e13, 2018 Oct.
Article
en En
| MEDLINE
| ID: mdl-31595243
ABSTRACT
BACKGROUND:
Array comparative genomic hybridization (aCGH) has been replacing karyotype in neurodevelopment diseases or intellectual disability cases. Regarding prenatal diagnosis (PND) karyotyping is still the criterion standard technique; nevertheless, the application of aCGH in this field has been increasing dramatically and some groups recommended it as the first-tier prenatal genetic test in cases of fetal ultrasound abnormalities. Despite aCGH greater resolution, the detection of variants of unknown significance (VOUS) is not desirable, so it's need some reflexion before generalized application on PND.OBJECTIVE:
The aim of this study was to analyze the prevalence and type of copy number variants (CNVs) detected in the 55 PND samples collected from pregnancies with indication to perform aCGH.METHODS:
aCGH was performed using Agilent 4â×â180K microarrays and results were analyzed using CytoGenomics software. RESULTS ANDCONCLUSION:
Eight (14.5%) cases had pathogenic or likely pathogenic CNVs. VOUS were found in 21.8% of the cases, but this frequency could be minimized if only large CNVs above 1 million base pairs that are outside the clinically curated targeted regions were considered.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Tipo de estudio:
Diagnostic_studies
/
Risk_factors_studies
Idioma:
En
Revista:
Porto Biomed J
Año:
2018
Tipo del documento:
Article
País de afiliación:
Portugal