Eiben B, Trawicki W, Hammans W, Goebel R, Epplen J T
Institut für Klinische Genetik und Frauenklinik am Evangelischen Krankenhaus Oberhausen, Germany.
Prenat Diagn. 1998 Sep;18(9):901-6. doi: 10.1002/(sici)1097-0223(199809)18:9<901::aid-pd369>3.0.co;2-l.
Fluorescence in situ hybridization (FISH) on uncultured amniocytes and standard cytogenetic analysis after amniocentesis have been performed for 904 samples. The experience with the FISH method and its clinical relevance is described in a large clinical pilot study. Commercially available chromosome-specific DNA probes for chromosomes 13, 18, 21, X and Y were used. FISH assays were performed from 12 weeks of gestation to the third trimester. In 96 per cent of the cases, hybridization was performed successfully. At least 50 nuclei for all probes could be counted in 88 per cent of the cases and in 8 per cent between 10 and 49 nuclei were scored. All trisomies 13, 18 and 21 and all cases with gonosomal aberrations were detected by FISH analysis with the exception of one case of trisomy 21 in which hybridization failed due to technical problems. Neither false-positive nor false-negative results were obtained with the DNA probes, in complete agreement with standard cytogenetics. In our experience, FISH is a valuable and reliable method for rapid diagnosis. Consequences of FISH diagnosis are discussed.
对904份样本进行了羊水穿刺术后未培养羊水细胞的荧光原位杂交（FISH）和标准细胞遗传学分析。一项大型临床试点研究描述了FISH方法的经验及其临床相关性。使用了针对13号、18号、21号染色体以及X和Y染色体的市售染色体特异性DNA探针。FISH检测从妊娠12周进行至孕晚期。96%的病例杂交成功。88%的病例中所有探针至少可计数50个细胞核，8%的病例中计数的细胞核数在10至49个之间。除1例因技术问题杂交失败的21三体病例外，所有13、18和21三体以及所有性染色体异常病例均通过FISH分析检测到。DNA探针未获得假阳性或假阴性结果，与标准细胞遗传学完全一致。根据我们的经验，FISH是一种用于快速诊断的有价值且可靠的方法。文中讨论了FISH诊断的后果。
