PMID- 11288114
OWN - NLM
STAT- MEDLINE
DCOM- 20010705
LR  - 20041118
IS  - 0197-3851 (Print)
IS  - 0197-3851 (Linking)
VI  - 21
IP  - 4
DP  - 2001 Apr
TI  - Fluorescence in situ hybridization (FISH) for rapid detection of aneuploidy: 
      experience in 911 prenatal cases.
PG  - 262-9
AB  - Fluorescence in situ hybridization (FISH) was performed with probes specific for 
      chromosomes 13, 18, 21, X and Y on 911 of 11123 (8.2%) amniotic fluid samples 
      submitted to the present authors' laboratory for cytogenetic analysis over an 
      8-year period. Altogether 3516 hybridizations were performed with an 
      interpretable FISH result on all chromosomes requested in 884/911 (97%) of cases. 
      An uninformative FISH result occurred in 44 hybridizations among 27 cases (3%). 
      Of a total of 89 karyotypically proven cases with aneuploidy that might have been 
      detected by FISH, the overall detection rate was 84%. An inconclusive or 
      incomplete FISH result occurred in 9/89 (10%) of these proven aneuploid cases. In 
      the remaining 80 informative proven aneuploid cases, correct detection of 
      aneuploidy was accomplished in 75/80 (94%) of samples. A false-negative result 
      occurred in the remaining 5/80 (6%) of such informative cases. Eighteen cases had 
      karyotypically proven abnormalities that could not have been detected by the 
      targeted FISH. Aside from these 18 cases, FISH allowed correct detection of 
      normal disomy in 785/804 (98%) of such cases. An incomplete FISH result occurred 
      in 18 normal disomic cases. There was a single possible 'false-positive' FISH 
      result for chromosome 21. Interphase FISH analysis of uncultured amniotic fluid 
      cells has been shown to be a useful laboratory tool for rapid fetal aneuploidy 
      screening during pregnancy. As with all clinical laboratory diagnostic tests, 
      incomplete or inconclusive results (or even interpretive errors) occur in a small 
      percentage of cases. Nevertheless, FISH results accompanied by other data and by 
      appropriate counseling provide clinicians and patients with valuable information 
      for clinical decision-making surrounding family planning and pregnancy 
      management.
CI  - Copyright 2001 John Wiley & Sons, Ltd.
FAU - Weremowicz, S
AU  - Weremowicz S
AD  - Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115, USA. 
      sweremowic@bics.bwh.harvard.edu
FAU - Sandstrom, D J
AU  - Sandstrom DJ
FAU - Morton, C C
AU  - Morton CC
FAU - Niedzwiecki, C A
AU  - Niedzwiecki CA
FAU - Sandstrom, M M
AU  - Sandstrom MM
FAU - Bieber, F R
AU  - Bieber FR
LA  - eng
PT  - Journal Article
PL  - England
TA  - Prenat Diagn
JT  - Prenatal diagnosis
JID - 8106540
RN  - 0 (DNA Probes)
SB  - IM
CIN - Prenat Diagn. 2001 Aug;21(8):702-4. PMID: 11536276
MH  - Amniocentesis
MH  - Amniotic Fluid/cytology
MH  - *Aneuploidy
MH  - Chromosomes, Human, Pair 18
MH  - Cytogenetic Analysis
MH  - DNA Probes
MH  - Down Syndrome/diagnosis/genetics
MH  - False Negative Reactions
MH  - False Positive Reactions
MH  - Female
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Maternal Age
MH  - Pregnancy
MH  - Pregnancy, High-Risk
MH  - *Prenatal Diagnosis
MH  - Trisomy
EDAT- 2001/04/05 10:00
MHDA- 2001/07/06 10:01
CRDT- 2001/04/05 10:00
PHST- 2001/04/05 10:00 [pubmed]
PHST- 2001/07/06 10:01 [medline]
PHST- 2001/04/05 10:00 [entrez]
AID - 10.1002/pd.39 [doi]
PST - ppublish
SO  - Prenat Diagn. 2001 Apr;21(4):262-9. doi: 10.1002/pd.39.