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目的分析产前诊断的孕妇羊水细胞染色体核型,探讨染色体异常核型与产前诊断指征的关系及羊膜腔穿刺术的安全性,为产前遗传咨询提供客观的实验依据。方法对1179例有产前诊断指征的孕妇于孕中晚期在B超引导下行羊膜腔穿刺术,取羊水细胞培养和制片,对染色体核型进行分析。分析相关数据,术后随访。结果穿刺成功的1179例羊水,细胞培养成功并进行核型分析的为1159例,培养成功率为98.30%。染色体分析异常核型22例(22/1159=1.90%),多态核型37例(37/1159=3.19%),总检出率5.09%(59/1159=5.09%)。在产前诊断指征中,血清筛查阳性组孕妇异常核型11例,检出率1.66%(11/664),多态核型14例,总检出率3.77%(25/664),其中21-三体综合征3例,18-三体综合征1例,性染色体异常5例;高龄组孕妇异常核型7例,检出率1.58%(7/444),多态核型20例,总检出率6.08%,其中21-三体综合征3例,18-三体综合征1例,性染色体异常1例;曾育染色体异常儿组孕妇18例,检出异常核型2例,其中1例是易位型21-三体,多态核型1例,总检出率占16.67%;夫妇单方染色体异常5例,检出异常核型3例,检出率60.00%;有不良妊娠分娩史的孕妇37例,检出异常核型2例,多态核型1例,总检出率8.11%。发生胎死宫内1例,占0.08%(1/1179)。结论血清筛查阳性、高龄、曾育染色体异常儿、夫妻单方染色体异常、有不良妊娠分娩史者均有必要进行产前诊断。羊膜腔穿刺术相对安全,羊水细胞染色体检查是目前安全有效的诊断胎儿染色体的方法。
Objective To analyze the karyotypes of amniotic fluid cells in prenatal diagnosis of pregnant women and explore the relationship between chromosomal aberrations and prenatal diagnosis and the safety of amniocentesis and to provide objective experimental evidence for prenatal genetic counseling. Methods A total of 1179 pregnant women with prenatal diagnosis indications underwent amniocentesis in the second trimester of pregnancy with amniocentesis and amniotic fluid cell culture and preparation. The karyotype of the chromosomes was analyzed. Analysis of relevant data, follow-up. Results A total of 1179 cases of amniotic fluid were successfully punctured, and 1159 cases were successfully cultured and analyzed for karyotype. The successful rate was 98.30%. There were 22 cases (22/1159 = 1.90%) of chromosomal abnormalities and 37 (1159/199%) cases of polymorphic karyotype. The overall detection rate was 5.09% (59/1159 = 5.09%). Among the prenatal diagnosis indications, 11 cases (11/664) were found abnormal in karyotype of pregnant women with positive serum screening test, and 14 cases were polymorphic karyotype with a total detection rate of 3.77% (25/664) Among them, 21 cases had trisomy syndrome in 3 cases, 18 cases had trisomy syndrome in 1 case and 5 cases had sex chromosome abnormality. There were 7 cases with abnormal karyotype in high age group, the detection rate was 1.58% (7/444) Cases, the total detection rate of 6.08%, of which 21 cases of trisomy syndrome in 3 cases, 1 case of trisomy 18, 1 case of chromosomal abnormalities; children with chromosomal abnormalities had 18 pregnant women, the detection of abnormal karyotype 2 One case was translocated 21-trisomy, one case of polymorphic karyotype, with a total detection rate of 16.67%; 5 cases of unilateral chromosome abnormalities in couples, 3 cases of abnormal karyotype detected, the detection rate was 60.00%; There were 37 pregnant women with adverse pregnancy history, 2 cases of abnormal karyotype detected, 1 case of polymorphic karyotype, the total detection rate was 8.11%. 1 case of fetal death occurred, accounting for 0.08% (1/1179). Conclusion Serum screening positive, elderly, had children with chromosomal abnormalities, couples unilateral chromosomal abnormalities, have a history of adverse pregnancy delivery are necessary for prenatal diagnosis. Amniocentesis is relatively safe, amniotic fluid cell chromosome examination is currently safe and effective method of diagnosis of fetal chromosomes.