title: Prenatal genomic profiling of abdominal wall defects through comparative genomic hybridization: perspectives for a new diagnostic tool.
abstract: 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.
authors.affiliation: Cell Culture and Cytogenetics Laboratory, Fetal Medicine Service, CAISM, Department of Obstetrics and Gynecology, School of Medicine, Universidade Estadual de Campinas (Unicamp), Campinas, Brazil.
authors.forename: Juliana Karina Ruiz
authors.initials: JK
authors.lastname: Heinrich
authors.forename: Isabela Nelly
authors.initials: IN
authors.lastname: Machado
authors.forename: Luciana
authors.initials: L
authors.lastname: Vivas
authors.forename: Maria Otília
authors.initials: MO
authors.lastname: Bianchi
authors.forename: Kleber
authors.initials: K
authors.lastname: Cursino Andrade
authors.forename: Lourenço
authors.initials: L
authors.lastname: Sbragia
authors.forename: Ricardo
authors.initials: R
authors.lastname: Barini
mesh_terms: 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*