59º Congresso Brasileiro de Genética
Resumos do 59o Congresso Brasileiro de Genética • 16 a 19 de setembro de 2013
Hotel Monte Real Resort • Águas de Lindóia • SP • Brasil
www.sbg.org.br - ISBN 978-85-89109-06-2
175
MAKING HEADWAY WITH THE NEONATAL
GENOMICS IN THE PUBLIC HEALTH: A
COMBINED STRATEGY USING MLPA AND
ARRAY
Dias, AT1,2; Zanardo, EA 1,2; Dutra, RL1,2; Montenegro, MM1,2; Novo-Filho, GM1,2; Costa, TVMM1,2; Nascimento, AM1,2;
Basso, MM1,2; Piazzon, FB1,2; Melaragno, MI3; Kim, CA1; Kulikowski, LD1,2
Departamento de Patologia, Laboratório de Citogenômica,Faculdade de Medicina da Universidade de São Paulo, São
Paulo, Brasil; 2Departamento de Pediatria, Instituto da Criança, Faculdade de Medicina da Universidade de São Paulo,
São Paulo, Brasil; 3Departamento de Morfologia e Genética,Universidade Federal de São Paulo, São Paulo, Brasil
1
[email protected]
Keywords: Congenital Malformation, Cytogenomic Methods, MLPA, Array, Health Public System
Congenital malformation (CM) is a major public health problem with substantial impacts on morbidity and
mortality, representing a constant challenge in pediatric hospitalizations. The conventional karyotyping (unique
test available in our Public Health System), often fails to detect submicroscopic chromosomal rearrangements and,
cytogenomic methods have become a very useful tool to identify genomic pathogenic copy number imbalances.
We investigate 348 patients with clinical phenotype and apparently normal karyotype applying a new combined
cytogenomic strategy using different kits by MLPA (Multiplex Ligation-dependent Probe Amplification) and similar
array platforms (Illumina, Agilent and Affymetrix). Our results using MLPA techniques showed 31% (106/348)
of patients presenting pathogenic genomic copy number changes, including Williams-Beuren Syndrome, 22q11.2
microdeletion syndrome and subtelomeric regions. Also array techniques revealed 80% (60/75) of the patients with
unexpected unbalanced genomic aberrations non-associated to known syndromes. Cytogenomic techniques have
greatly increased the ability to identify pathogenic genomic imbalances and our combined strategy has improved the
diagnostic success in our patients, disclosing several different microdeletions and microduplications associated with
multiple congenital anomalies. In conclusion, cytogenomic combined diagnosis (MLPA-ARRAYs) is essential for an
accurate analysis of patients with MC and genomic alterations indistinguishable by G-banding. Besides, knowing
the etiology of MC is of major importance in care and counseling of patients and families and provides insight
in co-morbidity, prognosis and recurrence risk. By careful clinical evaluation and using cytogenomic technologies,
we could find over 50% of pathogenic genomic abnormalities the patients selected for the present study, which
reveals a comprehensive and promising field for application of these new technologies in Public Health System.
Financial Support: FAPESP 2009-53105/9, CNPq 401910/10 and CAPES.