Cytogenomic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities: The Brazilian experience

Cytogenomic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities: The Brazilian experience

Author Zanardo, Evelin Aline Google Scholar
Dutra, Roberta Lelis Google Scholar
Piazzon, Flavia Balbo Google Scholar
Dias, Alexandre Torchio Google Scholar
Novo-Filho, Gil Monteiro Google Scholar
Nascimento, Amom Mendes Google Scholar
Montenegro, Marilia Moreira Google Scholar
Damasceno, Jullian Gabriel Google Scholar
Rosa Madia, Fabricia Andreia Google Scholar
Moura Machado da Costa, Thais Virginia Google Scholar
Melaragno, Maria Isabel Autor UNIFESP Google Scholar
Kim, Chong Ae Google Scholar
Kulikowski, Leslie Domenici Google Scholar
Abstract OBJECTIVE: The human genome contains several types of variations, such as copy number variations, that can generate specific clinical abnormalities. Different techniques are used to detect these changes, and obtaining an unequivocal diagnosis is important to understand the physiopathology of the diseases. The objective of this study was to assess the diagnostic capacity of multiplex ligation-dependent probe amplification and array techniques for etiologic diagnosis of syndromic patients. METHODS: We analyzed 93 patients with developmental delay and multiple congenital abnormalities using multiplex ligation-dependent probe amplifications and arrays. RESULTS: Multiplex ligation-dependent probe amplification using different kits revealed several changes in approximately 33.3% of patients. The use of arrays with different platforms showed an approximately 53.75% detection rate for at least one pathogenic change and a 46.25% detection rate for patients with benign changes. A concomitant assessment of the two techniques showed an approximately 97.8% rate of concordance, although the results were not the same in all cases. In contrast with the array results, the MLPA technique detected B70.6% of pathogenic changes. CONCLUSION: The obtained results corroborated data reported in the literature, but the overall detection rate was higher than the rates previously reported, due in part to the criteria used to select patients. Although arrays are the most efficient tool for diagnosis, they are not always suitable as a first-line diagnostic approach because of their high cost for large-scale use in developing countries. Thus, clinical and laboratory interactions with skilled technicians are required to target patients for the most effective and beneficial molecular diagnosis.
Keywords Cytogenomic Techniques
Developmental Delay
Multiple Congenital Abnormalities
xmlui.dri2xhtml.METS-1.0.item-coverage Sao Paulo
Language English
Sponsor Coordenacao de Aperfeicoamento de Pessoal de Nivel Superior (CAPES)
Fundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP)
Date 2017
Published in Clinics. Sao Paulo, v. 72, n. 9, p. 526-537, 2017.
ISSN 1807-5932 (Sherpa/Romeo, impact factor)
Publisher Hospital Clinicas, Univ Sao Paulo
Extent 526-537
Access rights Open access Open Access
Type Article
Web of Science ID WOS:000413649800002
SciELO ID S1807-59322017000900516 (statistics in SciELO)

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