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2011, Number 1

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Rev Cub Gen 2011; 5 (1)

Application of a prenatal strategy for the diagnosis of chromosomal mosaicism for the elimination of false positives

Méndez RLA, Lantigua CA, Quiñones MO, Barrios MA, Soriano TM, González GN, Morales RE, García RM

Language: Spanish
References: 31
Page:
PDF size: 128.90 Kb.


ABSTRACT

Chromosomal mosaicism is an event having an occurrence from 0,10% to 0,30% in cytogenetic prenatal diagnosis by amniocytes culture. This is a limiting factor of this type of prenatal diagnosis since there are confounding events that may hinder the absolute confidence in the diagnosis of those cases suspected of chromosomal mosaicism. A total of 16 950 cases of the cytogenetics laboratory of the National Center of Medical Genetics and the reports published in the international literature were analyzed.. Two work periods of the same laboratory were compared (1984 - 1999 and 2003 - 2007). The improvement in diagnosis efficiency in the period when the strategy was applied, mainly due to the elimination of false positive cases of structural aberrations pseudomosaicism, was demonstrated. The results of this study support the recommendation of generalizing this strategy to the rest of the cytogenetics laboratories in the country.


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