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目的了解我院21三体综合征产前诊断情况,提高21三体综合征高风险孕妇产前诊断率。方法对具有21三体综合征产前诊断指征的2650名孕妇进行产前诊断,对于孕周在24周以下的孕妇采用羊膜腔穿刺,对24周以上的孕妇采用胎儿脐静脉穿刺,对羊水或脐静脉血进行细胞培养,分析染色体的核型。结果共检出21三体综合征胎儿26例,22例为游离型21三体综合征,其余4例为嵌合型,26例21三体综合征胎儿母亲中,35岁以上高龄孕妇(未进行产前筛查)11例,唐氏筛查为高风险的高龄孕妇4例,唐氏筛查为高风险的低龄孕妇9例,单纯超声检查异常孕妇1例,不良生育史等其他原因孕妇1例,孕周24周以上7例,24周以下的19例。结论提高孕妇21三体综合征的产前筛查和产前诊断率,能够有效减少21三体综合征胎儿的出生率。
Objective To understand the prenatal diagnosis of trisomy 21 in our hospital and to improve the prenatal diagnosis rate of trisomy 21 high risk pregnant women. Methods Prenatal diagnosis was performed on 2,650 pregnant women with prenatal diagnosis of trisomy 21 syndrome and amniocentesis for pregnant women whose gestational age was under 24 weeks. Umbilical cord puncture was performed on pregnant women over 24 weeks. Amniotic fluid Or umbilical cord blood cell culture, analysis of chromosome karyotype. Results Totally 21 trisomy 21 fetuses were detected, 22 cases were free trisomy 21 and the remaining 4 cases were chimeric. Among 26 fetuses with trisomy 21, pregnant women over 35 years old Prenatal screening) 11 cases, Down’s screening for high-risk elderly pregnant women in 4 cases, Down’s screening for high-risk low-risk pregnant women in 9 cases, simple ultrasonography abnormal pregnant women in 1 case, adverse pregnancy history and other causes of pregnant women 1 case, gestational age more than 24 weeks in 7 cases, 24 weeks following 19 cases. Conclusion Increasing the prenatal screening and prenatal diagnosis of trisomy 21 in pregnant women can effectively reduce the trisomy 21 trisomy.