PMID- 18841567
OWN - NLM
STAT- MEDLINE
DCOM- 20090325
LR  - 20081008
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 25
IP  - 5
DP  - 2008 Oct
TI  - [Rapid prenatal diagnosis of chromosome aneuploidies in 60 uncultured amniotic 
      fluid samples by fluorescence in situ hybridization].
PG  - 538-41
AB  - OBJECTIVE: To evaluate the feasibility of rapid prenatal diagnosis of chromosome 
      aneuploidies by interphase fluorescence in situ hybridization (FISH) using 
      uncultured amniotic fluid. METHODS: Bacterial artificial chromosome (BAC) DNA 
      probes were prepared and validated by using cultured peripheral blood. Interphase 
      FISH for chromosomes 13, 18, 21, X and Y was performed in 60 amniotic fluid 
      samples for the rapid prenatal diagnosis of chromosome aneuploidies, and the 
      results were compared with the karyotypes from conventional cytogenetic analysis. 
      RESULTS: Of all 60 cases, 58 were concordant with their karyotypes, and 1 case of 
      inv(9) and another case of t(2,12) were identified by karyotyping. Two cases of 
      trisomy 21 and 1 case of trisomy 18 were detected by FISH and confirmed with 
      conventional cytogenetics (sensitivity=100%). There were no false-positive or 
      false-negative results. CONCLUSION: This evaluation demonstrated that FISH 
      employing BAC DNA probes could accurately and rapidly detect aneuploidies 
      involving the above 5 chromosomes. However, as it does not identify structural 
      chromosome aberrations and aneuploidies involving other chromosomes, it is not a 
      substitute for conventional chromosome analysis, and the negative FISH result 
      should be carefully interpreted.
FAU - Wang, Hao
AU  - Wang H
AD  - State Key Lab of Medical Genetics of China, Central South University, Changsha, 
      Hunan 410078, P.R. China.
FAU - Li, Haibo
AU  - Li H
FAU - Wang, Huilin
AU  - Wang H
FAU - Wang, Hua
AU  - Wang H
FAU - Xia, Yan
AU  - Xia Y
FAU - Wen, Juan
AU  - Wen J
FAU - Long, Zhigao
AU  - Long Z
FAU - Dai, Heping
AU  - Dai H
FAU - Liang, Desheng
AU  - Liang D
FAU - Xia, Jiahui
AU  - Xia J
FAU - Wu, Lingqian
AU  - Wu L
LA  - chi
PT  - English Abstract
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
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  - Adult
MH  - Amniotic Fluid/cytology/*metabolism
MH  - *Aneuploidy
MH  - Culture Techniques
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Karyotyping
MH  - Male
MH  - Pregnancy
MH  - Prenatal Diagnosis/*methods
MH  - Time Factors
EDAT- 2008/10/09 09:00
MHDA- 2009/03/26 09:00
CRDT- 2008/10/09 09:00
PHST- 2008/10/09 09:00 [pubmed]
PHST- 2009/03/26 09:00 [medline]
PHST- 2008/10/09 09:00 [entrez]
AID - 940625117 [pii]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008 Oct;25(5):538-41.