PMID- 15952125
OWN - NLM
STAT- MEDLINE
DCOM- 20090319
LR  - 20050613
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 22
IP  - 3
DP  - 2005 Jun
TI  - [Application of fluorescence in situ hybridization to prenatal diagnosis of Down 
      syndrome].
PG  - 317-9
AB  - 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 samplesiand 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.
FAU - Wang, Ming
AU  - Wang M
AD  - Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, 
      310006, PR China.
FAU - Li, Qing-feng
AU  - Li QF
FAU - Qiao, Fu-yuan
AU  - Qiao FY
LA  - chi
PT  - English Abstract
PT  - Journal Article
PL  - China
TA  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi
JT  - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese 
      journal of medical genetics
JID - 9425197
SB  - IM
MH  - Down Syndrome/*diagnosis/*genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Karyotyping
MH  - Pregnancy
MH  - Prenatal Diagnosis/*methods
MH  - Reproducibility of Results
EDAT- 2005/06/14 09:00
MHDA- 2009/03/20 09:00
CRDT- 2005/06/14 09:00
PHST- 2005/06/14 09:00 [pubmed]
PHST- 2009/03/20 09:00 [medline]
PHST- 2005/06/14 09:00 [entrez]
AID - 940622078 [pii]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Jun;22(3):317-9.