Méndez RLA, Llanusa RC, Nodarse RA, García RM, Molina GO, Huertas PG, Suárez MU, de León ON

Language: Spanish
References: 11
Page: 12-16
PDF size: 455.34 Kb.

ABSTRACT

Fluorescence in situ hybridization applied to the cytogenetic prenatal diagnosis is a rapid way to establish a nexus between genes and chromosomes without cellular culture and allows detection of chromosomal abnormalities on interphase cells. The aim of the present study was to evaluate this method as a tool in prenatal diagnosis in high risk pregnancies. Prenatal diagnosis was carried out in 104 high-risk pregnancies, in which the indication of fetal alterations through echography predominated. There were diagnosed 11 positive cases, from which 6 were Down syndrome, 2 Patau syndrome, one Edward syndrome, one X polysomie and a 22q11.2 delection. Corroboration studies through conventional cytogenetic methods was not carried out in the half of these positive cases due to several reasons: First, there was a correlation between echographic finding and FISH analyses. Second, the advanced pregnancy age did not allow amniocytes culture. Last, in certain cases it was impossible to carry out a cordocentesis due to the location of the placenta. A normal case diagnosed through FISH was born with several abnormalities and the clinical analysis of the newborn suggest a chromosome 4 short arm deletion. To conclude, FISH technique applied on interface cells combined with the right management of genetic risk indications and conventional karyotype, when it is possible to be carried out, constitute a new strategy for prenatal diagnosis in Cuba.

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