Literature DB >> 17556825

Prenatal genomic profiling of abdominal wall defects through comparative genomic hybridization: perspectives for a new diagnostic tool.

Juliana Karina Ruiz Heinrich1, Isabela Nelly Machado, Luciana Vivas, Maria Otília Bianchi, Kleber Cursino Andrade, Lourenço Sbragia, Ricardo Barini.   

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.

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Mesh:

Year:  2007        PMID: 17556825     DOI: 10.1159/000103297

Source DB:  PubMed          Journal:  Fetal Diagn Ther        ISSN: 1015-3837            Impact factor:   2.587


  2 in total

Review 1.  A clinical-pathogenetic approach on associated anomalies and chromosomal defects supports novel candidate critical regions and genes for gastroschisis.

Authors:  Victor M Salinas-Torres; Rafael A Salinas-Torres; Ricardo M Cerda-Flores; Hugo L Gallardo-Blanco; Laura E Martínez-de-Villarreal
Journal:  Pediatr Surg Int       Date:  2018-08-09       Impact factor: 1.827

2.  Current progress in neonatal surgery.

Authors:  Tomoaki Taguchi
Journal:  Surg Today       Date:  2008-04-30       Impact factor: 2.549

  2 in total

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