2012, Number 1
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Revista Cubana de Obstetricia y Ginecología 2012; 38 (1)
Cytogenetic prenatal diagnosis by means of in situ hybridization with fluorescence
Méndez RLA, Nodarse RA, Morales RE, Barrios MA, Soriano TM, Castelvi LA
Language: Spanish
References: 14
Page: 1-10
PDF size: 201.84 Kb.
ABSTRACT
Fluorescence in situ hybridization applied to the cytogenetic prenatal diagnosis is a
rapid way to stablish a nexus between genes and chromosomes without celular
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
of aneuploidies in high risk pregnancies. Prenatal diagnosis was carried out in 40
high-risk pregnancies using fluorescence in situ hybridization, 34 had successuful
results. The 97 % the cases were confirmed by conventional cytogenetic results.
The diagnosis of 18, 21 and 13 chromosome aneuploidies showed three
hybridization signals in 80 % of the scored nuclei. The results of fluorescence in situ
hybridization were in conformity with the results of cytogenetic analysis in all the
normal cases (sex and autosomic chromosomes). This technique should be applied
in high risk cases of chromosomes aneuploidies (21,18, 13 and X), high maternal
anxiety, or when significant clinical situation is present. It should be employed as
an adjunctive tool to the examination of fetal chromosomes.
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