Prenatal genomic profiling of abdominal wall defects through comparative genomic hybridization: perspectives for a new diagnostic tool.
OBJECTIVE
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.
Heinrich
Juliana Karina Ruiz
JK
Cell Culture and Cytogenetics Laboratory, Fetal Medicine Service, CAISM, Department of Obstetrics and Gynecology, School of Medicine, Universidade Estadual de Campinas (Unicamp), Campinas, Brazil.
Machado
Isabela Nelly
IN
Vivas
Luciana
L
Bianchi
Maria Otília
MO
Cursino Andrade
Kleber
K
Sbragia
Lourenço
L
Barini
Ricardo
R
D034861:Abdominal Wall / Q000002:abnormalities* / Q000502:physiology; D000649:Amniocentesis / Q000379:methods; D005260:Female; D020139:Gastroschisis / Q000175:diagnosis / Q000235:genetics; D020869:Gene Expression Profiling / Q000379:methods*; D006801:Humans; D009693:Nucleic Acid Hybridization / Q000235:genetics / Q000379:methods*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*