PMID- 10420039
OWN - NLM
STAT- MEDLINE
DCOM- 19990902
LR  - 20171101
IS  - 1015-3837 (Print)
IS  - 1015-3837 (Linking)
VI  - 14
IP  - 4
DP  - 1999 Jul-Aug
TI  - Rapid prenatal diagnosis of aneuploidies in uncultured amniocytes by fluorescence 
      in situ hybridization. Evaluation of >3,000 cases.
PG  - 193-7
AB  - OBJECTIVE: A new method in prenatal diagnostics allows to demonstrate certain 
      numeric chromosomal aneuploidies in amniotic cells within 24 h in contrast to 
      conventional methods which take 1-3 weeks. MATERIALS: The experience with this 
      rapid fluorescence in situ hybridization (FISH) method is compared to standard 
      karyotyping and its clinical relevance is described in a large clinical pilot 
      study. FISH on uncultured amniocytes has been performed from 12 weeks of 
      gestation to the third trimester using commercially available chromosome-specific 
      DNA probes for chromosomes 13, 18, 21, X and Y. RESULTS: FISH was performed 
      successfully in 3,150 prenatal cases. All trisomies 13, 18 and 21 and all cases 
      with gonosomal aberrations were detected by FISH analysis. Neither false-positive 
      nor false-negative results were obtained using FISH. For all analyzable disorders 
      the FISH results were in complete agreement with standard cytogenetics. 
      CONCLUSIONS: In our experience, FISH is a valuable and reliable method for rapid 
      diagnosis of numeric chromosomal aneuploidies.
FAU - Eiben, B
AU  - Eiben B
AD  - Institut fur Klinische Genetik und Frauenklinik am Evangelischen Krankenhaus 
      Oberhausen, Deutschland, Germany. eiben@cityweb.de
FAU - Trawicki, W
AU  - Trawicki W
FAU - Hammans, W
AU  - Hammans W
FAU - Goebel, R
AU  - Goebel R
FAU - Pruggmayer, M
AU  - Pruggmayer M
FAU - Epplen, J T
AU  - Epplen JT
LA  - eng
PT  - Comparative Study
PT  - Journal Article
PL  - Switzerland
TA  - Fetal Diagn Ther
JT  - Fetal diagnosis and therapy
JID - 9107463
SB  - IM
MH  - Adult
MH  - Amniocentesis/*methods
MH  - *Aneuploidy
MH  - Evaluation Studies as Topic
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Karyotyping
MH  - Male
MH  - Mosaicism
MH  - Pilot Projects
MH  - Polyploidy
MH  - Pregnancy
MH  - Trisomy
MH  - X Chromosome
MH  - Y Chromosome
EDAT- 1999/07/27 00:00
MHDA- 1999/07/27 00:01
CRDT- 1999/07/27 00:00
PHST- 1999/07/27 00:00 [pubmed]
PHST- 1999/07/27 00:01 [medline]
PHST- 1999/07/27 00:00 [entrez]
AID - 20919 [pii]
AID - 10.1159/000020919 [doi]
PST - ppublish
SO  - Fetal Diagn Ther. 1999 Jul-Aug;14(4):193-7. doi: 10.1159/000020919.