PMID- 10416971
OWN - NLM
STAT- MEDLINE
DCOM- 19991202
LR  - 20061115
IS  - 0197-3851 (Print)
IS  - 0197-3851 (Linking)
VI  - 19
IP  - 6
DP  - 1999 Jun
TI  - Two years' prospective experience using fluorescence in situ hybridization on 
      uncultured amniotic fluid cells for rapid prenatal diagnosis of common 
      chromosomal aneuploidies.
PG  - 546-51
AB  - A probe was generated from the YAC clone 831B9 that was suitable for the prenatal 
      detection of trisomy 21 using fluorescence in situ hybridization (FISH). This 
      probe was initially tested on a series of 650 unselected amniotic fluid samples 
      prior to the karyotype being available. 630 were correctly identified as having 
      two copies and 13 samples were correctly scored as having three copies of 
      chromosome 21. Seven samples failed to produce a result. A trial was then 
      initiated, reporting to clinicians the interphase FISH results before cytogenetic 
      analysis had been performed. During the first 18 months of this trial 1504 
      samples were tested: 1467 were correctly identified as disomic and 35 samples 
      were correctly scored as trisomic for chromosome 21. Two samples failed to 
      produce a result. A chromosome 18 specific probe (LI.84) was employed where there 
      was a relevant clinical indication (181 samples) and 10 samples were correctly 
      scored as having three copies of chromosome 18. Thus, this approach appears to be 
      reliable and is popular with both clinicians and patients due to the speed of the 
      result. However, it does not replace chromosomal analysis on cultured cells, 
      which detected a range of abnormalities besides the trisomies and triploidies 
      detected by FISH.
FAU - Morris, A
AU  - Morris A
AD  - West of Scotland Regional Genetics Service, Yorkhill NHS Trust, Glasgow, UK.
FAU - Boyd, E
AU  - Boyd E
FAU - Dhanjal, S
AU  - Dhanjal S
FAU - Lowther, G W
AU  - Lowther GW
FAU - Aitken, D A
AU  - Aitken DA
FAU - Young, J
AU  - Young J
FAU - Menzies, A L
AU  - Menzies AL
FAU - Imrie, S J
AU  - Imrie SJ
FAU - Connor, J M
AU  - Connor JM
LA  - eng
PT  - Clinical Trial
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  - *Chromosomes, Human, Pair 18
MH  - Down Syndrome/*diagnosis
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Microscopy, Fluorescence/methods
MH  - Prenatal Diagnosis
MH  - Prospective Studies
MH  - Trisomy/*diagnosis
EDAT- 1999/07/23 10:00
MHDA- 2000/06/20 09:00
CRDT- 1999/07/23 10:00
PHST- 1999/07/23 10:00 [pubmed]
PHST- 2000/06/20 09:00 [medline]
PHST- 1999/07/23 10:00 [entrez]
AID - 10.1002/(SICI)1097-0223(199906)19:6<546::AID-PD589>3.0.CO;2-8 [pii]
PST - ppublish
SO  - Prenat Diagn. 1999 Jun;19(6):546-51.