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目的 探讨不同穿刺指征行产前诊断的孕妇胎儿染色体核型异常类型的特点及异常检出率.方法 对2016年1月至2017年9月在我院行羊水染色体产前诊断的225例核型进行分析.结果 225例行产前诊断病例中发现胎儿异常核型42例,染色体异常检出率18.67％.因唐氏筛查21-三体高风险行羊水穿刺孕妇81例,有6例羊水核型异常,阳性率为7.41％.因高龄行羊水穿刺的孕妇57例,其中9例为21-三体,异常检出率为15.79％.因唐筛13-三体及18-三体高风险行羊穿的孕妇为8例,有1例为18三体,阳性率为1 2.5％.因NT＞ 2.5mm行羊穿9例,3例核型异常,异常检出率为33.33％.因生育过21-三体行羊穿者8例,异常检出率为0％.因超声结构异常行羊穿者为14例,2例核型异常,异常检出率为14.29％.因畸胎史行穿刺者5例,异常检出率为0％.因无创DNA21-三体高风险行羊穿者有14例,核型分析结果阳性为11例,阳性率为78.57％,因无创DNA提示18-三体和13-三体者为5例,有1例阳性,阳性率为20％,因无创DNA提示其他染色体异常行羊水穿刺者为11例,有3例核型异常,异常检出率为27.27％,因父母染色体异常行羊水穿刺的有11例,有4例阳性,阳性率为36.36％,因异常接触史和不良孕产史行羊穿各1例,阳性率0％.结论 因无创21-三体高风险行羊膜腔穿刺中胎儿染色体异常检出率最高,检出率为78.57％,其次为父母染色体异常,异常检出率为36.36％,再次为NT＞ 2.5mm,异常检出率为33.33％,无创提示其他染色体异常,异常检出率为27.27％,无创13,18-三体高风险,异常检出率为20％,所以对于无创DNA而言,检出率最高的是21-三体.无创DNA对于其他染色体异常也有一定的提示作用.孕妇高龄的检出率大于唐筛21-三体高风险检出率及13,18三体高风险检出率,由此可见,孕妇高龄的确大大增加了胎儿染色体异常的发生率.而唐氏筛查21-三体高风险的检出率只有7.41％,说明唐氏筛查的假阳性率还是很高的.而唐筛13,18-三体高风险异常检出率为20％.异常接触和不良孕产史、畸胎史的检出率均为0.“,”Objective:To investigate the characteristics of abnormal chromosome karyotype abnormalities and abnormal detection rate of prenatal diagnosis of pregnant women with different puncture indications.Methods:A total of 225 karyotypes were diagnosed by amniotic fluid chromosomal prenatal diagnosis in our hospital from January 2016 to September 2017.Results:Of the 225 cases of prenatal diagnosis,42 cases of fetal abnormal karyotype were found,and the detection rate of chromosome abnormality was 18.67％.According to Down's screening 21-three body high risk of amniotic fluid puncture pregnant women in 81 cases,6 cases of amniotic fluid karyotype abnormalities,the positive rate was 7.41％.57 cases of pregnant women who were punctured by amniotic fluid in the elderly,of which 9 were 21-trisomy and the abnormal detection rate was 15.79％.Due to Tang sieve 13-trisomy and 18-three body high risk sheep to wear pregnant women in 8 cases,1 case of 18 trisomy,the positive rate was 12.5％.Due to NT＞ 2.5mm sheep wear in 9 cases,3 cases of karyotype abnormalities,abnormal detection rate was 33.33％.Due to childbearing 21-tricuspid sheep in 8 cases,the abnormal detection rate of 0％.Due to abnormal ultrasound structure of the sheep were 14 cases,2 cases of karyotype abnormalities,abnormal detection rate of 14.29％.5 cases of teratogenic puncture,abnormal detection rate of 0％.There were 14 cases of non-invasive DNA21-trisomy and high risk sheep,14 cases were positive for karyotype analysis,the positive rate was 78.57％,and there were 5 cases with 18-trisomy and 13-trisomy,Positive rate of 20％,due to non-invasive DNA suggest that other chromosomal abnormalities were amniotic puncture in 11 cases,3 cases of karyotype abnormalities,abnormal detection rate was 27.27％,due to abnormal chromosomal ablation of amniotic fluid in 11 cases,4 cases were positive,the positive rate was 36.36％,due to abnormal exposure history and adverse pregnancy history sheep sheep 1 case,the positive rate of 0％.Conclusion:The detection rate of chromosome abnormality was 78.57％,followed by parental chromosome abnormality,abnormal detection rate was 36.36％,again NT＞ 2.5mm,Abnormal detection rate of 33.33％,noninvasive prompted other chromosomal abnormalities,abnormal detection rate of 27.27％,noninvasive 13,18-trisomy high risk,abnormal detection rate of 20％,so for non-invasive,the highest detection rate Is 21-three body.Noninvasive DNA has a certain effect on other chromosomal abnormalities.The detection rate of pregnant women is higher than that of Tang-sheng 21-trisomy and high risk detection rate of 13,18 trisomy.It can be seen that the age of pregnant women is greatly increased the incidence of fetal chromosomal abnormality.While Down's screening of 21-trisomy high risk detection rate of only 7.41％,indicating that the false positive rate of Down's screening is still very high.While the detection rate of high-risk 13,18-trisomy was 20％.Abnormal contact and adverse pregnancy history,teratogenic history of the detection rate is 0.