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目的探讨不同的细胞遗传学产前诊断指征与胎儿染色体异常的关系。方法选取我院2013年10月至2016年10月有产前诊断指征的孕妇460例,均在孕18-23w行超声引导下羊膜腔穿刺术,抽取适量羊水进行细胞培养及染色体核型分析。比较不同产前诊断指征与胎儿染色体异常核型检出率的关系。结果羊水培养成功率100%。检出异常核型40例,异常率为8.69%(40/460),其中染色体数目异常27例,结构异常7例,其他异常6例。各种产前诊断指征中,高龄孕妇(预产期孕妇年龄≥35岁)82例,检出异常核型7例,异常检出率8.54%;中孕期母血清学筛查高风险280例,异常核型13例,检出率4.64%;NT增厚孕妇(NT≥3.0mm)70例,异常核型10例,检出率14.29%;无创产前DNA检测高风险11例,异常核型10例,检出率90.91%。结论掌握好各种产前诊断指征,对高危孕妇进行必要的产前介入诊断和染色体核型分析,可有效提高胎儿染色体异常的检出率,减少出生缺陷儿的发生。
Objective To investigate the relationship between different cytogenetic prenatal diagnosis indications and fetal chromosomal abnormalities. Methods A total of 460 pregnant women with prenatal diagnosis indications from October 2013 to October 2016 in our hospital underwent ultrasound-guided amniocentesis at 18-23 weeks of pregnancy. The appropriate amount of amniotic fluid was drawn for cell culture and karyotype analysis . The relationship between different prenatal diagnosis indications and fetal chromosomal abnormality karyotype detection rate was compared. Results The success rate of amniotic fluid culture was 100%. Forty cases with abnormal karyotype were detected, the rate of abnormality was 8.69% (40/460). There were 27 cases with abnormal chromosome number, 7 cases with abnormal structure and 6 cases with other abnormalities. Among the various prenatal diagnosis indications, 82 cases of advanced pregnant women (expected maternal age≥35 years old), 7 cases of abnormal karyotype detected, the rate of abnormal detection was 8.54%; 280 cases of high risk of maternal serological screening in the second trimester were abnormal Karyotype in 13 cases, the detection rate was 4.64%; NT thickened pregnant women (NT≥3.0mm) in 70 cases, abnormal karyotype in 10 cases, the detection rate was 14.29%; noninvasive prenatal DNA detection of high risk in 11 cases, abnormal karyotype 10 Example, the detection rate of 90.91%. Conclusion All kinds of indications for prenatal diagnosis are mastered. The necessary diagnosis of prenatal diagnosis and karyotype analysis of high-risk pregnant women can effectively improve the detection rate of fetal chromosomal abnormalities and reduce the incidence of birth defects.