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  • Title: [Application of fluorescence in situ hybridization to prenatal diagnosis of Down syndrome].
    Author: Wang M, Li QF, Qiao FY.
    Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Jun; 22(3):317-9. PubMed ID: 15952125.
    Abstract:
    OBJECTIVE: Fluorescence in situ hybridization (FISH) was performed with specific probes to make the rapid prenatal diagnosis of Down syndrome. METHODS: 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. RESULTS: 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). CONCLUSION: FISH is a rapid and reliable method to detect Down syndrome in uncultured amniotic fluid.
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