Original Paper

Array Comparative Genomic Hybridization in Prenatal Diagnosis: Another Experience
F. Vialard^{a, d}, D. Molina Gomes^{a, d}, B. Leroy^b, E. Quarello^c, A. Escalona^a, C. Le Sciellour^{a, d}, V. Serazin^{a, d}, J. Roume^a, Y. Ville^c, P. de Mazancourt^{a, d}, J. Selva<sup>a, d

a</sup>Federation of Genetics,
^bFetopathology Unit,
^cService of Gynaecology and Obstetrics, CHI Poissy Saint Germain, Poissy, and
^dEA2493 UVSQ, Versailles, France

Address of Corresponding Author

Fetal Diagn Ther 2009;25:277-284 (DOI: 10.1159/000224112)

  Key Words

• Array comparative genomic hybridization
• Multiple congenital abnormality
• Deletion 1p36

  Abstract

Objectives: Etiologic diagnosis of multiple congenital abnormalities (MCAs) is often lacking. Large chromosome abnormalities can be detected by conventional cytogenetic methods, but more subtle chromosome micro-rearrangements and/or de novo abnormalities require multi-FISH analysis, which is hampered by the amount of material available in prenatal testing. Methods: We used the comparative genomic hybridization (CGH) array, Genosensor™ Array 300, to screen for classic microdeletion syndromes and subtelomeric rearrangements in 39 consecutive fetuses with MCAs, after termination of pregnancy, in a prospective study. Thirty-seven of them had a normal karyotype, and two had a de novo unbalanced karyotype that could not be characterized with conventional cytogenetic methods. Results: Two de novo unbalanced karyotypes were characterized by array CGH, and four additional abnormalities were diagnosed: an unbalanced inherited cryptic translocation, a deletion in band 22q11.2, a 1p36 deletion, and a 6p12.1–21.2 duplication. Conclusion: Chromosomal imbalances were therefore detected and/or characterized in 6 of 39 (15.4%) fetuses, indicating the value of routine array CGH in cases of MCAs and in uncharacterized chromosome rearrangements. Extension to all prenatal diagnoses may be warranted when copy number variation is identified and all FISH probes are commercially available.

Copyright © 2009 S. Karger AG, Basel

  Author Contacts

Dr. François Vialard
Department of Cytogenetics
CHI Poissy Saint Germain, 10, rue du Champs Gaillard
FR–78303 Poissy (France)
Tel. +33 1 39 27 47 00, Fax +33 1 39 27 44 25, E-Mail fvialard@hotmail.com

  Article Information

Received: March 11, 2008
Accepted after revision: August 8, 2008
Published online: June 11, 2009
Number of Print Pages : 8
Number of Figures : 5, Number of Tables : 1, Number of References : 35