PMID- 9793971
OWN - NLM
STAT- MEDLINE
DCOM- 19990107
LR  - 20190905
IS  - 0197-3851 (Print)
IS  - 0197-3851 (Linking)
VI  - 18
IP  - 9
DP  - 1998 Sep
TI  - A prospective comparative study on fluorescence in situ hybridization (FISH) of 
      uncultured amniocytes and standard karyotype analysis.
PG  - 901-6
AB  - Fluorescence in situ hybridization (FISH) on uncultured amniocytes and standard 
      cytogenetic analysis after amniocentesis have been performed for 904 samples. The 
      experience with the FISH method and its clinical relevance is described in a 
      large clinical pilot study. Commercially available chromosome-specific DNA probes 
      for chromosomes 13, 18, 21, X and Y were used. FISH assays were performed from 12 
      weeks of gestation to the third trimester. In 96 per cent of the cases, 
      hybridization was performed successfully. At least 50 nuclei for all probes could 
      be counted in 88 per cent of the cases and in 8 per cent between 10 and 49 nuclei 
      were scored. All trisomies 13, 18 and 21 and all cases with gonosomal aberrations 
      were detected by FISH analysis with the exception of one case of trisomy 21 in 
      which hybridization failed due to technical problems. Neither false-positive nor 
      false-negative results were obtained with the DNA probes, in complete agreement 
      with standard cytogenetics. In our experience, FISH is a valuable and reliable 
      method for rapid diagnosis. Consequences of FISH diagnosis are discussed.
FAU - Eiben, B
AU  - Eiben B
AD  - Institut fur Klinische Genetik und Frauenklinik am Evangelischen Krankenhaus 
      Oberhausen, Germany. eiben@cityweb.de
FAU - Trawicki, W
AU  - Trawicki W
FAU - Hammans, W
AU  - Hammans W
FAU - Goebel, R
AU  - Goebel R
FAU - Epplen, J T
AU  - Epplen JT
LA  - eng
PT  - Comparative Study
PT  - Journal Article
PL  - England
TA  - Prenat Diagn
JT  - Prenatal diagnosis
JID - 8106540
RN  - 0 (DNA Probes)
SB  - IM
MH  - *Amniocentesis
MH  - Amniotic Fluid/*cytology
MH  - *Chromosome Aberrations
MH  - Chromosomes, Human, Pair 13
MH  - Chromosomes, Human, Pair 18
MH  - DNA Probes
MH  - Down Syndrome/diagnosis
MH  - Female
MH  - Gestational Age
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Mosaicism
MH  - Pregnancy
MH  - Prospective Studies
MH  - Sex Chromosome Aberrations/diagnosis
MH  - Trisomy
EDAT- 1998/10/30 03:03
MHDA- 2000/06/20 09:00
CRDT- 1998/10/30 03:03
PHST- 1998/10/30 03:03 [pubmed]
PHST- 2000/06/20 09:00 [medline]
PHST- 1998/10/30 03:03 [entrez]
AID - 10.1002/(SICI)1097-0223(199809)18:9<901::AID-PD369>3.0.CO;2-L [pii]
AID - 10.1002/(sici)1097-0223(199809)18:9<901::aid-pd369>3.0.co;2-l [doi]
PST - ppublish
SO  - Prenat Diagn. 1998 Sep;18(9):901-6. doi: 
      10.1002/(sici)1097-0223(199809)18:9<901::aid-pd369>3.0.co;2-l.