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Analyse chromosomique sur puce à ADN (CGH array) : principe et application en diagnostic prénatal

Chromosomal microarray analysis (array CGH): principle and application in prenatal diagnosis

  • Article Original / Original Article
  • Published:
Revue de médecine périnatale

Résumé

La CGH array est une nouvelle méthode d’exploration des chromosomes automatisable qui s’affranchit des cultures cellulaires et a un pouvoir de résolution de 10 à 1000 fois supérieur à celui du caryotype. En postnatal, l’étude par CGH array des patients présentant une déficience intellectuelle et/ou des malformations congénitales (DI et/ou MC) a conduit à la mise en évidence d’environ 10 à 15 % d’anomalies chromosomiques non visibles sur le caryotype. Ainsi, la CGH array est devenue aujourd’hui l’examen de première intention pour l’analyse génomique de ces patients.

L’application de la CGH array en prénatal est plus délicate du fait de la détection d’anomalies chromosomiques dont l’impact clinique est difficile à prédire. Cependant, les progrès dans la connaissance du génome et le développement d’outils (puces à ADN) adaptés permettront d’envisager dans l’avenir l’application de cette technique comme examen de première intention pour l’étude des chromosomes en prénatal.

Abstract

Array CGH is a new automated exploration method that overcomes cell cultures, and his resolution power is 10 to 1000 times higher than the karyotype one’s. In postnatal diagnosis, the study by array CGH of patients with intellectual disabilities and/or congenital malformations led to the identification of about 10% to 15% of chromosomal anomalies that are not visible on the karyotype. Thus, array CGH has become the first-line test for genomic analysis of these patients. The application of array CGH in prenatal diagnosis is more difficult because of the detection of chromosomal anomalies whose clinical impact is difficult to predict. However, advances in knowledge of the genome and the development of appropriate tools (DNA chips) will allow to consider, in the future, the application of this technique as first-line test for the study of chromosomes in prenatal diagnosis.

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Authors and Affiliations

  1. Service de cytogénétique, hôpital Necker-Enfants Malades, 149, rue de sèvres, F-75015, Paris, France

    V. Malan & S. Romana

  2. Université Paris Descartes, Paris, France

    V. Malan & S. Romana

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  1. V. Malan
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  2. S. Romana
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Correspondence to S. Romana.

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Malan, V., Romana, S. Analyse chromosomique sur puce à ADN (CGH array) : principe et application en diagnostic prénatal. Rev. med. perinat. 4, 67–73 (2012). https://doi.org/10.1007/s12611-012-0181-9

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  • DOI: https://doi.org/10.1007/s12611-012-0181-9

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