Prenatal diagnosis using interphase fluorescence in situ hybridization (FISH):: 2-year multi-center retrospective study and review of the literature

被引:93
作者
Tepperberg, J
Pettenati, MJ
Rao, PN
Lese, CM
Rita, D
Wyandt, H
Gersen, S
White, B
Schoonmaker, MM
机构
[1] Vysis Inc, Downers Grove, IL 60515 USA
[2] Lab Corp Amer, Res Triangle Pk, NC USA
[3] Wake Forest Univ, Sch Med, Winston Salem, NC 27109 USA
[4] Univ Chicago, Chicago, IL 60637 USA
[5] Lutheran Gen Hosp, Park Ridge, IL 60068 USA
[6] Boston Univ, Sch Med, Boston, MA 02215 USA
[7] DIANON Syst Inc, Stratford, NJ USA
[8] Quest Diagnost, Nichols Inst, San Juan Capistrano, CA USA
关键词
prenatal diagnosis; FISH; aneuploidy; trisomy; monosomy;
D O I
10.1002/pd.57
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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((R)) 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. Copyright (C) 2001 John Wiley & Sons, Ltd.
引用
收藏
页码:293 / 301
页数:9
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