[Application of fluorescence in situ hybridization to prenatal diagnosis of Down syndrome].
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).


CONCLUSIONS
FISH is a rapid and reliable method to detect Down syndrome in uncultured amniotic fluid.
Wang
Ming
M
Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, 310006, PR China.
Li
Qing-feng
QF
Qiao
Fu-yuan
FY
D004314:Down Syndrome / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D007621:Karyotyping; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D015203:Reproducibility of Results