PMID- 10721179
OWN - NLM
STAT- MEDLINE
DCOM- 20000419
LR  - 20061115
IS  - 0948-2393 (Print)
IS  - 0948-2393 (Linking)
VI  - 204
IP  - 1
DP  - 2000 Jan-Feb
TI  - [Diagnosis of aneuploidy with fluorescence in situ hybridization (FISH); value in 
      pregnancies with increased risk for chromosome aberrations].
PG  - 1-7
AB  - BACKGROUND: In the case of abnormal ultrasound findings, abnormal serum-screening 
      and age-risk in advanced pregnancy a rapid diagnosis or exclusion of a 
      chromosomal aneuploidy of the fetus is of great value for the clinical 
      management. With fluorescence in situ hybridization (FISH) on uncultured amniotic 
      fluid cells the detection of the most common aneuploidies, which account for 
      about 2/3 of all chromosomal aberrations [1], is possible within 24 hours. The 
      aim was to evaluate if the FISH-technique in combination with karyotyping after 
      cell culturing could replace other methods like diagnostics form umbilical cord 
      blood or placental biopsies. MATERIALS AND METHODS: For the FISH assays 
      commercially available directly with fluorochromes labelled DNA-probes (Vysis, 
      Stuttgart) were used. FISH assays were performed on amniotic fluid samples from 
      pregnancies at risk for fetal chromosome aberrations parallel to standard 
      cytogenetic analysis. The method was performed on 230 samples of amniotic fluid. 
      We tried to optimize the method concerning preparation of the cell material, the 
      denaturation- and hybridization-steps and well as stringency of 
      post-hybridization washes. RESULTS: All trisomies 13, 18, 21 and the sex 
      chromosome aneuploidies (n = 34) which were diagnosed by conventional 
      cytogenetics were identified correctly by FISH analysis with the exception of one 
      case of trisomy 21 mosaicism, in which hybridization failed. As structural 
      chromosome aberrations and mosaicisms cannot be detected with this method, six 
      additional chromosome aberrations were identified exclusively by cytogenetic 
      analysis. The mean frequency of nuclei with abnormal signal pattern in the 
      aneuploid cases was 89%. A minimum of 50 nuclei for each DNA-probe could be 
      counted in 86% of the samples. The results of 12 cases were classified as 
      uninformative, because only less than 15 hybridized nuclei or no hybridization 
      signals could be scored. Maternal contamination was found in 17.4% of the 
      samples. CONCLUSIONS: In clinical cases with a high risk for an abnormal fetal 
      karyotype and the need of quick clinical consequences, methods which make 
      possible a karyotyping within shortest time should be preferred to amniocentesis 
      and FISH-analysis, because Chromosomal mosaicism and structural aberrations, 
      which represent up to 20% of all chromosomal abnormalities in this group, cannot 
      be detected, uninformative cases can occur in up to 15% of all investigated 
      samples and There is a risk for false-negative results through contamination of 
      the sample with cells of maternal origin. In comparison with methods which permit 
      rapid karyotyping from umbilical cord blood or placental biopsies, a delay in the 
      diagnostic procedure has to be accepted, when the result of the FISH-analysis has 
      to be confirmed by cell culturing and standard cytogenetic analysis.
FAU - Ulmer, R
AU  - Ulmer R
AD  - Institut fur Humangenetik der Friedrich-Alexander-Universitat Erlangen-Nurnberg.
FAU - Pfeiffer, R A
AU  - Pfeiffer RA
FAU - Kollert, A
AU  - Kollert A
FAU - Beinder, E
AU  - Beinder E
LA  - ger
PT  - English Abstract
PT  - Journal Article
TT  - Aneuploidiediagnostik mittels Fluoreszenz-in-situ-Hybridisierung (FISH); 
      Stellenwert bei Schwangerschaften mit erhohtem Risiko fur 
      Chromosomenaberrationen.
PL  - Germany
TA  - Z Geburtshilfe Neonatol
JT  - Zeitschrift fur Geburtshilfe und Neonatologie
JID - 9508901
SB  - IM
MH  - *Amniocentesis
MH  - *Aneuploidy
MH  - Chromosome Aberrations/*diagnosis/genetics
MH  - Chromosome Disorders
MH  - Female
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Mosaicism/genetics
MH  - Predictive Value of Tests
MH  - Pregnancy
MH  - Risk Factors
MH  - Sex Chromosome Aberrations/diagnosis/genetics
MH  - Trisomy/genetics
MH  - Ultrasonography, Prenatal
EDAT- 2000/03/18 09:00
MHDA- 2000/04/25 09:00
CRDT- 2000/03/18 09:00
PHST- 2000/03/18 09:00 [pubmed]
PHST- 2000/04/25 09:00 [medline]
PHST- 2000/03/18 09:00 [entrez]
AID - 10.1055/s-2000-10188 [doi]
PST - ppublish
SO  - Z Geburtshilfe Neonatol. 2000 Jan-Feb;204(1):1-7. doi: 10.1055/s-2000-10188.