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目的探讨荧光原位杂交技术(fluorescence in situ hybridization,FISH)在羊水产前诊断中的应用价值。方法 2644例符合羊水产前诊断指征的孕妇在抽羊水行染色体检查的同时,用常见非整倍体探针对未培养的羊水间期细胞行FISH检查,其中1661例唐氏高风险孕妇采用LSI 21(红色)、71例18三体高风险孕妇采用CEP 18(天蓝色)、912例高龄或超声异常征象及其它早孕用药、不良孕史等因素孕妇采用LSI 21(红色)/LSI 13(绿色)/CEP 18(天蓝色)/CEP X(绿色)/CEP Y(红色)探针,对2644例羊水核型分析和FISH结果进行比较。结果 FISH检出染色体数目异常102例,检出率3.9%(102/2644),核型分析发现异常病例124例,检出率4.7%(124/2644),两者比较无显著差异(P>0.05)。124例异常核型中99例为染色体数目异常,占异常核型的79.8%(99/124),FISH全部检出,其中97例两种方法结果完全一致,两例结果不符(一例FISH:18三体,核型分析:三倍体;另一例FISH:13、18、21、X三体,核型分析:三倍体)。124例异常核型中22例染色体结构异常,占异常核型的17.7%(22/124),分别为:罗氏易位5例,相互易位8例,倒位4例,X长臂等臂1例,1号染色体部分重复1例,标记染色体1例,20号染色体长臂双着丝粒1例,9号染色体含不明来源物1例,FISH未能检出,假阴性率0.8%(22/2644)。124例异常核型中3例存在染色体结构和数目双重变化,为罗氏不平衡易位,FISH检出其数目异常。结论 FISH在羊水产前诊断中对于常见非整倍体具有快速、准确的特点,但需严格掌握指征。
Objective To investigate the value of fluorescence in situ hybridization (FISH) in the diagnosis of prenatal amniotic fluid. Methods A total of 2644 pregnant women with prenatal diagnosis of amniotic fluid prenatal diagnosis of fetal amniotic fluid chromosomes at the same time, with common aneuploidy probes on uncultured amniotic fluid cells during FISH examination, of which 1661 Down’s high-risk pregnant women LSI 21 (red), 71 cases of 18 trisomy 3 high risk pregnant women using CEP 18 (sky blue), 912 elderly or abnormal ultrasound signs and other early pregnancy medication, adverse pregnancy history and other factors pregnant women with LSI 21 (red) / LSI 13 ) / CEP 18 (sky blue) / CEP X (green) / CEP Y (red) probes were used to compare the karyotype analysis and FISH results of 2644 cases of amniotic fluid. Results The number of chromosomal abnormalities detected by FISH was 102 (detection rate was 3.9% (102/2644)). In karyotype analysis, 124 cases were found abnormal, with a detection rate of 4.7% (124/2644). There was no significant difference between the two groups (P> 0.05). Of the 124 cases with abnormal karyotype, 99 cases were abnormal in chromosome number, accounting for 79.8% (99/124) of the abnormal karyotypes, all of which were detected by FISH. Among 97 cases, the results of the two methods were completely consistent, and the results of the two cases were inconsistent (FISH: 18 Trisomy, karyotype analysis: triploid; another case of FISH: 13, 18, 21, X trisomy, karyotype analysis: triploid). Twenty-four chromosome abnormalities were found in 124 cases of abnormal karyotypes, accounting for 17.7% (22/124) of abnormal karyotypes, including 5 cases of Roche translocation, 8 cases of mutual translocation, 4 cases of inversion, 4 cases of X arm In 1 case, chromosome 1 was partially duplicated in 1 case, 1 case was marked chromosome, 1 case was long arm dicentric on chromosome 20, 1 case was unknown on chromosome 9, FISH failed to detect, the false negative rate was 0.8% 22/2644). In 124 cases of abnormal karyotypes, there were three chromosome changes in structure and number, which were Roche imbalance translocations. The number of abnormalities was detected by FISH. Conclusion FISH in the amniotic fluid prenatal diagnosis of common aneuploidy with rapid and accurate, but the need to strictly grasp indications.