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

Authors

  • Évelin Aline Zanardo Universidade de São Paulo; Departamento de Patologia, Faculdade de Medicina FMUSP; Laboratorio de Citogenomica
  • Roberta Lelis Dutra Universidade de São Paulo; Departamento de Patologia, Faculdade de Medicina FMUSP; Laboratorio de Citogenomica
  • Flavia Balbo Piazzon Universidade de São Paulo; Departamento de Patologia, Faculdade de Medicina FMUSP; Laboratorio de Citogenomica
  • Alexandre Torchio Dias Universidade de São Paulo; Departamento de Patologia, Faculdade de Medicina FMUSP; Laboratorio de Citogenomica
  • Gil Monteiro Novo-Filho Universidade de São Paulo; Departamento de Patologia, Faculdade de Medicina FMUSP; Laboratorio de Citogenomica
  • Amom Mendes Nascimento Universidade de São Paulo; Departamento de Patologia, Faculdade de Medicina FMUSP; Laboratorio de Citogenomica
  • Marília Moreira Montenegro Universidade de São Paulo; Departamento de Patologia, Faculdade de Medicina FMUSP; Laboratorio de Citogenomica
  • Jullian Gabriel Damasceno Universidade de São Paulo; Departamento de Patologia, Faculdade de Medicina FMUSP; Laboratorio de Citogenomica
  • Fabrícia Andreia Rosa Madia Universidade de São Paulo; Departamento de Patologia, Faculdade de Medicina FMUSP; Laboratorio de Citogenomica
  • Thaís Virgínia Moura Machado da Costa Universidade de São Paulo; Departamento de Patologia, Faculdade de Medicina FMUSP; Laboratorio de Citogenomica
  • Maria Isabel Melaragno Universidade Federal de São Paulo; Departamento de Morfologia e Genetica
  • Chong Ae Kim Universidade de São Paulo; Instituto da Crianca, Hospital das Clinicas HCFMUSP, Faculdade de Medicina; Unidade de Genetica, Departamento de Pediatria
  • Leslie Domenici Kulikowski Universidade de São Paulo; Departamento de Patologia, Faculdade de Medicina FMUSP; Laboratorio de Citogenomica

DOI:

https://doi.org/10.6061/clinics/2017(09)02

Keywords:

Cytogenomic Techniques, MLPA, Array, Developmental Delay, Multiple Congenital Abnormalities

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 ∼70.6% 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.

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Published

2017-10-01

Issue

Section

Clinical Sciences

How to Cite

Zanardo, Évelin A., Dutra, R. L., Piazzon, F. B., Dias, A. T., Novo-Filho, G. M., Nascimento, A. M., Montenegro, M. M., Damasceno, J. G., Madia, F. A. R., da Costa, T. V. M. M., Melaragno, M. I., Kim, C. A., & Kulikowski, L. D. (2017). Cytogenomic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities: The Brazilian experience. Clinics, 72(9), 526-537. https://doi.org/10.6061/clinics/2017(09)02