engleski

Fluorescence in situ Hybridization in prenatal diagnosis

Samples of amniotic fluid from 49 patients were analyzed using Fluorescence in situ Hybridization (FISH) technique, applied on cultured and uncultured amniotic cells. Indications for FISH analysis on uncultured amniotic cells were: late weeks of gestation, abnormal ultrasound markers, abnormal serum-screening test, chromosome reciprocal translocation in parents and sex-chromosome related diseases. Analyses on 17 samples of uncultured amniocytes revealed two pathological karyotypes (11, 8 %). FISH analysis on 32 cultured samples was used as adjunct technique after classical cytogenetical analysis. Indications for 24 samples were suspected chromosomal structural de novo and numerical aberrations, 5 were investigated for population variants of acrocentric chromosomes and 3 for parents carriers of reciprocal translocation. From total number of 32 samples, 14 karyotypes were pathological (43, 8 %) and 18 karyotypes were normal (56, 2 %). Following analyses on cultured amniocytes, 4 medically indicated abortions were recommended as well as 1 medically indicated abortion after uncultured amniocytes analysis. FISH is a fast, powerful molecular cytogenetic technique used as an supplement to conventional chromosomal analysis.

FISH; Prenatal diagnosis

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