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目的探讨荧光原位杂交(FISH)技术在产前诊断胎儿染色体异常中的临床应用价值和现状。方法对99例孕17-23周、有产前诊断指征(25例经无创产前筛查为阳性)的孕妇,在B超引导下经腹抽取羊水后,应用特异性探针针对未经过培养的羊水间期细胞进行荧光原位杂交。同时进行常规羊水细胞培养和核型分析。结果 FISH和核型分析共检出染色体数目异常21例,异常率为21.2%,分别为15例21-三体、6例18-三体,结果一致;染色体核型分析检测出4例结构异常:46,XX,15ph+、46,XY,add(3)(p26.3)、46,XX,t(7;19)(p15;p13)、46,XX,inv(9)(p11q12)。结论在产前诊断中FISH检测适用于染色体(13,18,21,X,Y)数目异常的的快速诊断,缩短孕妇等待时间,减轻孕妇的焦虑。不能检测出结构异常,不能单独用于产前诊断。
Objective To investigate the clinical value and status quo of fluorescence in situ hybridization (FISH) in prenatal diagnosis of fetal chromosomal abnormalities. Methods Ninety-nine pregnant women, aged 17-23 weeks pregnant with prenatal diagnosis indications (25 cases were positive by noninvasive prenatal screening), were transabdominal guided amniotic fluid extraction with B-ultrasound. Cultured amniotic fluid cells were subjected to fluorescence in situ hybridization. At the same time conventional amniotic fluid cell culture and karyotype analysis. Results FISH and karyotype analysis detected 21 cases of chromosomal abnormalities, the abnormal rate was 21.2%, respectively, 15 cases of 21-trisomy, 6 cases of 18-trisomy, the results were consistent; chromosome karyotype analysis detected 4 cases of structural abnormalities : 46, XX, 15ph +, 46, XY, add (3) (p26.3), 46, XX, t (7; 19) (p15; p13), 46, XX, inv (9) (p11q12). Conclusion The FISH test in prenatal diagnosis is suitable for the rapid diagnosis of the abnormal number of chromosomes (13, 18, 21, X, Y), shortening the waiting time of pregnant women and alleviating the anxiety of pregnant women. Can not detect structural abnormalities, can not be used alone for prenatal diagnosis.