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Revista Cubana de Pediatría
versão On-line ISSN 1561-3119
Resumo
MENDEZ ROSADO, Luis Alberto et al. Features of the prenatal diagnosis by fluorescence in situ hybridization in Cuba. Rev Cubana Pediatr [online]. 2020, vol.92, n.2 Epub 15-Abr-2020. ISSN 1561-3119.
Introduction:
Prenatal diagnosis by fluorescent in situ hybridization decreases the time of diagnosis not being necessary the cell culture.
Objective:
To describe the characteristics and experiences of prenatal diagnosis by fluorescent in situ hybridization in Cuba.
Method:
In in situ amniocytes CEP catheters were applied and LSI for the detection of aneuploidies of the 21,18,13, X and Y chromosomes, and LSI catheters for the detection of deletions associated with microdeletion syndromes.
Results:
629 cases of high genetic risk were referred to the National Center of Medical Genetics. There was a prevalence of the indication of fetal abnormalities detected by ultrasound. In 612 (97%) cases the diagnosis was achieved in a satisfactory form, among them 50 (8.1%) positive cases, with predominance of Down syndrome in 26 cases. There were corroborated 312 cases by conventional cytogenetics with 98% of agreement with the results obtained by fluorescent in situ hybridization. It was used the cooled amniotic fluid to corroborate cases of uncertain diagnosis obtained by cytogenetics and there were detected 3 fetuses with chromosomal mosaics, the origin of a marker chromosome and the definition of fetal sex in one case.
Conclusions:
With the technology by fluorescent in situ hybridization, the prenatal diagnosis achieved a safe analysis option in cases of genetic high-risk pregnancies. Due to technological limitations, the test by fluorescent in situ hybridization in amniotic cells in interphase has adapted to the conditions in order to always achieve a safe diagnosis with the less possible damage to the pregnant women, the fetus and its family.
Palavras-chave : prenatal diagnosis; molecular cytogenetics; fluorescence in situ hybridization; aneuploidy.