PMID- 11288120
OWN - NLM
STAT- MEDLINE
DCOM- 20010705
LR  - 20061115
IS  - 0197-3851 (Print)
IS  - 0197-3851 (Linking)
VI  - 21
IP  - 4
DP  - 2001 Apr
TI  - Prenatal diagnosis using interphase fluorescence in situ hybridization (FISH): 
      2-year multi-center retrospective study and review of the literature.
PG  - 293-301
AB  - Since 1993, the position of the American College of Medical Genetics (ACMG) has 
      been that prenatal interphase fluorescence in situ hybridization (FISH) is 
      investigational. In 1997, the FDA cleared the AneuVysion assay (Vysis, Inc.) to 
      enumerate chromosomes 13, 18, 21, X and Y for prenatal diagnosis. Data is 
      presented from the clinical trial that led to regulatory clearance (1379 
      pregnancies) and from retrospective case review on 5197 new pregnancies. These 
      studies demonstrated an extremely high concordance rate between FISH and standard 
      cytogenetics (99.8%) for specific abnormalities that the AneuVysion assay is 
      designed to detect. In 29 039 informative testing events (6576 new and 22 463 
      cases in the literature) only one false positive (false positive rate = 0.003%) 
      and seven false negative results (false negative rate = 0.024%) occurred. A 
      historical review of all known accounts of specimens tested is presented (29 039 
      using AneuVysion and 18 275 specimens tested with other probes). These 
      performance characteristics support a prenatal management strategy that includes 
      utilization of FISH for prenatal testing when a diagnosis of aneuploidy of 
      chromosome 13, 18, 21, X or Y is highly suspected by virtue of maternal age, 
      positive maternal serum biochemical screening or abnormal ultrasound findings.
CI  - Copyright 2001 John Wiley & Sons, Ltd.
FAU - Tepperberg, J
AU  - Tepperberg J
AD  - Laboratory Corporation of America, Research Triangle Park, NC, USA.
FAU - Pettenati, M J
AU  - Pettenati MJ
FAU - Rao, P N
AU  - Rao PN
FAU - Lese, C M
AU  - Lese CM
FAU - Rita, D
AU  - Rita D
FAU - Wyandt, H
AU  - Wyandt H
FAU - Gersen, S
AU  - Gersen S
FAU - White, B
AU  - White B
FAU - Schoonmaker, M M
AU  - Schoonmaker MM
LA  - eng
PT  - Comparative Study
PT  - Journal Article
PT  - Multicenter Study
PT  - Review
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  - *Chromosome Aberrations
MH  - DNA Probes
MH  - False Negative Reactions
MH  - False Positive Reactions
MH  - Female
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Pregnancy
MH  - Prenatal Diagnosis/*methods
MH  - Retrospective Studies
MH  - Sensitivity and Specificity
RF  - 66
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.57 [doi]
PST - ppublish
SO  - Prenat Diagn. 2001 Apr;21(4):293-301. doi: 10.1002/pd.57.