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Updated: Jul 14, 2026
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Prenatal genomic profiling of abdominal wall defects through comparative genomic hybridization: perspectives for a
Juliana Karina Ruiz Heinrich1, Isabela Nelly Machado, Luciana Vivas
1Cell Culture and Cytogenetics Laboratory, Fetal Medicine Service, CAISM, Department of Obstetrics and Gynecology, School of Medicine, Universidade Estadual de Campinas (Unicamp), Campinas, Brazil.
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.
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