Application of fluorescence in situ hybridization to prenatal diagnosis of Down syndrome / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>Fluorescence in situ hybridization (FISH) was performed with specific probes to make the rapid prenatal diagnosis of Down syndrome.</p><p><b>METHODS</b>FISH was performed respectively with locus-specific probe (LSI) 21 and centromeric probe (CEP) X/Y on the uncultured amniotic fluid samplesìand the cultured samples were analyzed by traditional cytogenetics to find the concordance rate between FISH and standard cytogenetics.</p><p><b>RESULTS</b>Amniocentesis was performed in 23 pregnant women. Two samples were discarded because of contamination by maternal blood; one case of culture failed. A typical trisomy 21 found by FISH was in accordance with the result of traditional cytogenetics. A case with abnormal karyotype (X/XY) found by CEPX/Y probe was proved to be normal (46, XY) by cytogenetics. So the concordance rate was 95% (19/20).</p><p><b>CONCLUSION</b>FISH is a rapid and reliable method to detect Down syndrome in uncultured amniotic fluid.</p>