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目的:使用荧光原位杂交(FISH)技术对胎儿染色体数目异常进行快速检测并评估其临床应用价值。方法:使用第13、18、21、X和Y5条染色体特异性的FISH探针对245例孕妇采用未经培养的新鲜羊水进行产前诊断,并与同时进行的羊水染色体检查结果进行对照。另外,选取36例染色体分析结果异常的存档标本(包括20例羊水标本和16例外周血/脐带血标本)对该检测技术进行验证。结果:使用FISH方法成功诊断唐氏综合征9例,18-三体综合征2例,性染色体数目异常3例,和同时进行的常规羊水染色体检查结果一致。但有4例经羊水染色体检出的染色体数目和结构异常,FISH因固有技术限制无法检出。在验证实验中,36例存档标本,全部染色体数目异常均能成功检出,成功率100%。结论:荧光原位杂交(FISH)技术检测第13、18、21、X和Y数目异常是准确快捷的产前诊断方法,值得推广应用。
OBJECTIVE: To detect the abnormality of fetal chromosome number by fluorescence in situ hybridization (FISH) and assess its clinical value. Methods: Prenatal diagnosis of 245 pregnant women using freshly uncultured amniotic fluid was performed with FISH probes of chromosomes 13, 18, 21, X and Y5 and compared with the results of simultaneous amniotic fluid chromosomal examination. In addition, 36 specimens of chromosomal abnormalities (including 20 samples of amniotic fluid and 16 samples of peripheral blood / umbilical cord blood) were selected to verify the detection technique. Results: 9 cases of Down Syndrome, 2 cases of 18-trisomy syndrome and 3 cases of abnormality of chromosomal abnormalities were successfully diagnosed by FISH. The results were consistent with the results of conventional amniotic fluid chromosomal examination. However, there were 4 cases of chromosome number and structure abnormalities detected by amniocentesis, and FISH could not be detected due to the inherent technical limitations. In the validation experiment, 36 cases of archived specimens, all the number of chromosome abnormalities were successfully detected, the success rate of 100%. Conclusion: Fluorescence in situ hybridization (FISH) to detect 13th, 18th, 21st, X and Y anomalies is an accurate and rapid prenatal diagnosis method, which is worth popularizing and applying.