PMID- 7877952
OWN - NLM
STAT- MEDLINE
DCOM- 19950406
LR  - 20190904
IS  - 0197-3851 (Print)
IS  - 0197-3851 (Linking)
VI  - 14
IP  - 11
DP  - 1994 Nov
TI  - Prenatal detection of trisomy 21 in uncultured amniocytes by fluorescence in situ 
      hybridization: a prospective study.
PG  - 1049-54
AB  - A prospective study was undertaken to evaluate the use of fluorescence in situ 
      hybridization (FISH) for the detection of trisomy 21 in interphase nuclei of 
      uncultured amniotic fluid cells. Five hundred cases were analysed in situ and 
      classified as normal or abnormal; the results were subsequently checked against 
      the cytogenetic findings. Four hundred and ninety-three were correctly identified 
      as normal with an 86.6 per cent average frequency of scored nuclei exhibiting two 
      signals; six cases were correctly identified as trisomic for chromosome 21 with 
      81.7 per cent of scored nuclei exhibiting three signals; and one abnormal case 
      involving an unbalanced chromosome 21:21 translocation was falsely scored as 
      normal due to poor hybridization/detection efficiency. The method has been 
      substantially improved and simplified so that it is suitable for the rapid 
      detection of trisomy 21. As aneuploidy detection in interphase does not identify 
      structural chromosome aberrations, it is not a substitute for fetal chromosome 
      analysis.
FAU - Spathas, D H
AU  - Spathas DH
AD  - Department of Pathology, University of Cambridge, U.K.
FAU - Divane, A
AU  - Divane A
FAU - Maniatis, G M
AU  - Maniatis GM
FAU - Ferguson-Smith, M E
AU  - Ferguson-Smith ME
FAU - Ferguson-Smith, M A
AU  - Ferguson-Smith MA
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Prenat Diagn
JT  - Prenatal diagnosis
JID - 8106540
SB  - IM
MH  - Amniotic Fluid/*cytology
MH  - Cells, Cultured
MH  - Down Syndrome/*diagnosis/genetics
MH  - Female
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Pregnancy
MH  - Prenatal Diagnosis/*methods
MH  - Prospective Studies
EDAT- 1994/11/01 00:00
MHDA- 1994/11/01 00:01
CRDT- 1994/11/01 00:00
PHST- 1994/11/01 00:00 [pubmed]
PHST- 1994/11/01 00:01 [medline]
PHST- 1994/11/01 00:00 [entrez]
AID - 10.1002/pd.1970141107 [doi]
PST - ppublish
SO  - Prenat Diagn. 1994 Nov;14(11):1049-54. doi: 10.1002/pd.1970141107.