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目的评价孕中期孕妇行产前筛查和产前诊断在减少出生缺陷中的价值。方法采用时间分辨免疫荧光法(DELFIA)检测血清甲胎蛋白(AFP)和游离β-绒毛膜促性腺激素(free-β-h CG)浓度,利用Risks 2T风险计算分析软件对DS、ES和NTD的风险度进行评估,对DS、ES高风险孕妇行羊水穿刺或脐血穿刺做染色体核型分析,对神经管缺陷高风险孕妇进行3D彩色多普勒超声检查以明确诊断并随访。结果不良妊娠的发生率高龄组孕妇明显高于适龄组;高风险孕妇不良妊娠的发生率明显高于低风险孕妇;高龄组高风险孕妇自愿接受侵入式检测明显高于适龄组,差异均有统计学意义(P<0.01)。结论进行孕中期孕妇产前筛查,并对DS、ES高风险孕妇进行染色体核型分析、对神经管缺陷高风险孕妇进行3D超声产前诊断可以有效减少缺陷儿的出生。
Objective To evaluate the value of prenatal screening and prenatal diagnosis in reducing the incidence of birth defects in second trimester pregnant women. Methods The concentrations of serum AFP and free-β-h CG were detected by time-resolved immunofluorescence (DELFIA). The risk of DS, ES and NTD The risk of DS, ES high risk pregnant women with amniocentesis or umbilical cord blood chromosome karyotype analysis, high risk of neural tube defects in pregnant women with 3D color Doppler ultrasound to confirm the diagnosis and follow-up. Results The incidence of adverse pregnancy was significantly higher in the advanced age group than in the age group. The incidence of adverse pregnancy in high-risk pregnant women was significantly higher than that in low-risk pregnant women. The high risk pregnant women in the senior age group were significantly higher than those in the right age group Significance (P <0.01). Conclusion Prenatal screening of pregnant women in the second trimester of pregnancy and chromosome karyotype analysis of pregnant women with high risk of DS and ES, prenatal diagnosis of high-risk neural tube defects in pregnant women by 3D ultrasound can effectively reduce the birth of defective children.