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目的探讨孕中晚期胎儿染色体异常的临床高危因素,为较为合理实施侵入性产前诊断提供参考。方法对732例具有产前诊断指征的孕妇行超声引导脐静脉穿刺术,并分析脐血染色体核型。结果检出异常核型52例,异常率7.1%(52/732),染色体异常以21-三体最多,占异常核型的34.6%(18/52)。唐氏征筛查高风险孕妇异常核型25例,检出率6.5%(25/383);超声胎儿异常组异常核型20例,检出率10.9%(20/183);高龄孕妇异常核型6例,检出率4.1%(6/146);胎儿生长受限(fetal growth restriction,FGR)组异常核型1例,检出率5.0%(1/20)。唐氏征筛查高风险组与高龄孕妇组之间的检出率有显著差异(P<0.05),其余各组间的检出率无显著差异(P>0.05)。结论唐氏筛查高风险、超声胎儿异常、高龄、FGR是产前诊断的重要指标,有利于提高胎儿染色体疾病的检出率。
Objective To investigate the clinical risk factors of fetal chromosomal abnormalities in the second trimester of pregnancy and provide a reference for more reasonable implementation of invasive prenatal diagnosis. Methods A total of 732 pregnant women with prenatal diagnosis indications underwent ultrasound guided umbilical vein puncture and analyzed karyotype of cord blood. Results Abnormal karyotypes were detected in 52 cases, with an abnormality rate of 7.1% (52/732). The most common chromosomal abnormalities were 21 - trisomy, accounting for 34.6% (18/52) of the abnormal karyotypes. Down syndrome was used to screen 25 cases of high risk pregnant women with abnormal karyotype, the detection rate was 6.5% (25/383); 20 cases of abnormal fetal karyotype were found in 20 cases (20/183) (6/146). There were 1 abnormal fetal karyotype in fetal growth restriction group (FGR). The detection rate was 5.0% (1/20). There was a significant difference (P <0.05) in the detection rate between the high risk group and the advanced pregnant women in the Down’s syndrome screening group. There was no significant difference among the other groups (P> 0.05). Conclusion Down’s screening of high-risk, ultrasound fetal abnormalities, elderly, FGR is an important indicator of prenatal diagnosis, help to improve the detection rate of fetal chromosomal diseases.