Detection of genomic instability by Comparative Genomic Hybridisation (CGH) in dysmorphic fetuses

• Grant number: 07/04684-0
• Support Opportunities: Regular Research Grants
• Start date: January 01, 2008
• End date: December 31, 2009
• Field of knowledge: Health Sciences - Medicine - Maternal and Child Health
• Principal Investigator: Ricardo Barini
• Grantee: Ricardo Barini
• Host Institution: Faculdade de Ciências Médicas (FCM). Universidade Estadual de Campinas (UNICAMP). Campinas , SP, Brazil

Abstract

A great number of fetuses with structural abnormalities and normal chromosomal results on routine G-banding, even after detailed physical examination and complementary exams, remain without definitive diagnosis. The principal molecular genetic techniques' limitation is the incapacity of short sequence copy number changes detection. To overcome this limitation, a novel molecular cytogenetic method is rising. This method, the Comparative Genomic Hybridization (CGH), does not require cellular culture or prior knowledge of the involved genomic region. Objective: To evaluate the applicability of the CGH method on fetal material for genomic gains and losses in malformed fetuses with normal karyotype. Methods: On a prospective descriptive study, fetal blood or amniotic fluid samples will be collected from malformed fetuses with normal G-banding karyotype, at the Fetal Medicine Unit of the Centro de Atenção Integral à Saúde da Mulher (CAISM), at the Universidade Estadual de Campinas (UNICAMP). After the sample characterization (estimated in 90 fetuses), a descriptive analysis of the CGH-based technique on fetal material will be accomplished. The additional cytogenetic diagnosis obtained from CGH-method over the routine G-banding will be achieved. (AU)

Scientific publications

(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)

MACHADO, I. N.; HEINRICH, J. K.; CAMPANHOL, C.; RODRIGUES-PERES, R. M.; OLIVEIRA, F. M.; BARINI, R.. Prenatal diagnosis of a partial trisomy 13q (q14 -> qter): phenotype, cytogenetics and molecular characterization by spectral karyotyping and array comparative genomic hybridization. Genetics and Molecular Research, v. 9, n. 1, p. 441-448, 2010. (07/04684-0)

MACHADO, ISABELA NELLY; HEINRICH, JULIANA KARINA; BARINI, RICARDO. Instabilidades genômicas detectadas através de array CGH em fetos com holoprosencefalia. Arquivos de Neuro-Psiquiatria, v. 69, n. 1, p. 3-8, FEB 2011. (07/04684-0)

MACHADO, I. N.; HEINRICH, J. K.; BARINI, R.; PERALTA, C. F. A.. Copy number imbalances detected with a BAC-based array comparative genomic hybridization platform in congenital diaphragmatic hernia fetuses. Genetics and Molecular Research, v. 10, n. 1, p. 261-267, 2011. (07/04684-0)