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- Title
Prenatal Genomic Profiling of Abdominal Wall Defects through Comparative Genomic Hybridization: Perspectives for a New Diagnostic Tool.
- Authors
Ruiz Heinrich, Juliana Karina; Machado, Isabela Nelly; Vivas, Luciana; Bianchi, Maria Otília; Andrade, Kleber Cursino; Sbragia, Lourenço; Barini, Ricardo
- Abstract
Objectives: To describe the molecular analysis through comparative genomic hybridization (CGH) of fetuses with gastroschisis, and to observe if this technique could improve the resolution of the conventional cytogenetic techniques. Methods: Amniotic analysis of fetuses with gastroschisis, using both conventional (G-banding) and molecular (CGH) cytogenetics assays. Results: All of the seven fetuses studied displayed a normal G-band karyotype. Six fetuses displayed a normal disomic profile through CGH and one sample has displayed ish cgh enh 3q26→qter result (ICSN). The fetus with this imbalance of chromosome 3 was re-classified as a ruptured omphalocele, instead of gastroschisis, after birth. Conclusions: The molecular investigation through CGH technique can improve the resolution of the conventional karyotye analysis in cases of abdominal wall defects. Copyright © 2007 S. Karger AG, Basel
- Subjects
UMBILICAL hernia; KARYOTYPES; GENOMES; COMPARATIVE genomic hybridization; CHROMOSOMES
- Publication
Fetal Diagnosis & Therapy, 2007, Vol 22, Issue 5, p361
- ISSN
1015-3837
- Publication type
Article
- DOI
10.1159/000103297