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目的探讨染色体病产前诊断指征与胎儿染色体病的关系。方法 2015年1月至2016年6月我院遗传优生科在孕妇知情同意,B超引导下对1955例孕妇行羊膜腔穿刺术,抽取20ml羊水进行细胞培养和染色体分析,比较不同产前诊断指征与胎儿染色体病的关系。结果羊水穿刺成功率100%,羊水细胞培养成功率100%,检出异常核型126例,异常检出率为6.4%。血清学产前筛查高风险902例,异常核型24例,异常检出率为2.7%;B超异常202例,异常核型19例,异常检出率9.4%;高龄孕妇595例,异常核型31例,异常检出率5.2%;其他因素174例,异常核型4例,异常检出率为2.3%;无创DNA产前检测高危82例,异常核型48例,异常检出率为58.5%,无创DNA产前检测高危检出率与前面三组相比差异有统计学意义。结论掌握好各种产前诊断指征,对高危孕妇行无创DNA产前检测及羊水染色体病产前诊断,可有效提高胎儿染色体病的检出率,降低出生缺陷的发生。
Objective To investigate the relationship between prenatal diagnosis of chromosomal disease and fetal chromosomal disease. Methods From January 2015 to June 2016, 1955 pregnant women underwent amniocentesis under the informed consent of pregnant women with genetic consent in our hospital. 20ml of amniotic fluid was drawn for cell culture and chromosome analysis. Compared with different prenatal diagnosis means Relationship between fetal signs and fetal chromosomal diseases. Results The success rate of amniocentesis was 100%, the success rate of amniotic fluid cell culture was 100%, 126 cases of abnormal karyotype were detected, the detection rate was 6.4%. Serological prenatal screening of high-risk 902 cases, 24 cases of abnormal karyotype, the abnormal detection rate was 2.7%; 202 cases of abnormal B, abnormal karyotype in 19 cases, abnormal detection rate of 9.4%; 595 cases of elderly pregnant women, abnormal 31 cases of karyotype, abnormal detection rate of 5.2%; 174 cases of other factors, abnormal karyotype in 4 cases, abnormal detection rate was 2.3%; noninvasive DNA prenatal detection of high risk in 82 cases, abnormal karyotype in 48 cases, abnormal detection rate For 58.5%, non-invasive DNA prenatal detection of high-risk detection rate compared with the previous three groups, the difference was statistically significant. Conclusion All kinds of indications for prenatal diagnosis are mastered. Prenatal diagnosis of noninvasive DNA and amniotic fluid chromosome prenatal diagnosis in high-risk pregnant women can effectively improve the detection rate of fetal chromosomal diseases and reduce the incidence of birth defects.