Fetal diagnosis and therapy · 2007
Prenatal genomic profiling of abdominal wall defects through comparative genomic hybridization: perspectives for a new diagnostic tool.
Сравнительное исследованиеСтатьяНазвание и аннотация: Перевод в очереди
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Heinrich Juliana Karina Ruiz, Machado Isabela Nelly, Vivas Luciana, Bianchi Maria Otília, Cursino Andrade Kleber, Sbragia Lourenço, Barini Ricardo
Аннотация
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.
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.