Detection of numerical chromosome aberrations by comparative genomic hybridization.
Prenat Diagn
; 19(2): 100-4, 1999 Feb.
Article
em En
| MEDLINE
| ID: mdl-10215063
ABSTRACT
At least 50 per cent of all first-trimester spontaneous abortions are cytogenetically abnormal, including trisomy, monosomy X, triploidy, tetraploidy and structural chromosome anomalies. Traditionally, the detection of aneuploidy in fetal tissues is performed by tissue sampling, cell culturing, metaphase spread preparation, and conventional banding analyses. This is a tedious, laborious and time-consuming process, prone to errors due to external contamination, culture failure and selective growth of maternal cells. In the present study, we applied the CGH technique in the detection of numerical chromosome abnormalities in 50 placentae of spontaneously aborted fetuses. CGH detected six different types of trisomy (trisomy 8, 15, 16, 18, 22 and 21), one double trisomy (involving chromosomes 14 and 21), and one monosomy X. Overall, nine samples (18 per cent) harboured numerical chromosome aberrations. Aneuploidy was detected in eight samples by CGH and in six samples by conventional cytogenetic analysis. In only one case, CGH failed to detect a mosaic for trisomy revealed by conventional cytogenetic analysis. The successful application of the CGH technique to the detection of aneuploidy in spontaneous abortions, demonstrates the utility of using this technique to screen prenatally for numerical chromosome abnormalities. Our preliminary data support the application of CGH to the clinical genetics setting, at least as a complementary tool to the traditional cytogenetic techniques.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Diagnóstico Pré-Natal
/
DNA
/
Doenças Fetais
/
Aneuploidia
/
Hibridização de Ácido Nucleico
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Female
/
Humans
/
Pregnancy
Idioma:
En
Revista:
Prenat Diagn
Ano de publicação:
1999
Tipo de documento:
Article
País de afiliação:
Israel