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目的评价孕中期血清学筛查方法在胎儿染色体异常和神经管缺陷检测中的应用价值。方法对32 097例孕周在15-20+6w、预产年龄小于35周岁的孕妇进行孕中期血清学筛查。筛查指标为甲胎蛋白(h AFP)、游离人绒毛膜促性腺激素β亚基(Free-β-h CG)和游离雌三醇(u E3),结合孕妇的年龄、体重、孕周等病史,运用Life Cycle软件进行分析计算出风险值。对21三体、18三体高风险孕妇建议羊水或脐血穿刺染色体核型分析,对NTD高风险孕妇建议超声产前诊断。对所有筛查孕妇妊娠结局进行随访。结果筛查出高风险孕妇1616例,高风险总阳性率为5.03%,21-三体高风险率4.47%,18-三体高风险率0.14%;NTD高风险率0.49%;羊水穿刺844例,确诊胎儿染色体异常51例,染色体异常率6.02%,其中21-三体10例,18-三体4例,性染色体异常2例,嵌合体8例,平衡易位2例,其它染色体异常25例;NTD高风险超声诊断神经管畸形5例。随访发现21-三体漏诊3例,神经管畸形漏诊4例。21-三体检出率为76.92%。结论孕中期三联血清学筛查对染色体异常有较高的检出率,有效减少缺陷儿出生,对提高出生人口质量具有重要意义。
Objective To evaluate the value of the second trimester serological screening method in the detection of fetal chromosomal abnormalities and neural tube defects. Methods A total of 32 097 pregnant women with gestational age of 15-20 + 6 weeks were enrolled in the second trimester of pregnancy screening. Screening criteria were a-fetoprotein (h AFP), Free-β-hCG and uE3, combined with age, weight, gestational age, etc. of pregnant women Medical history, use Life Cycle software to analyze and calculate the risk value. 21 trisomy, 18 trisomy 18 high risk pregnant women recommended amniotic fluid or umbilical cord blood chromosome karyotype analysis of NTD high-risk pregnant women recommended ultrasound prenatal diagnosis. All screening pregnant women were followed up for pregnancy outcomes. Results A total of 1616 high-risk pregnant women were screened out. The high-risk positive rate was 5.03%, the high risk of trisomy 21.44%, the high trisomy 18 risk 0.14%, the high risk of NTD 0.49%, the amniocentesis 844 Fetal chromosomal abnormalities in 51 cases, chromosomal abnormalities rate of 6.02%, including 21 trisomy in 10 cases, 18 trisomy in 4 cases, 2 cases of sex chromosome abnormalities, chimerism in 8 cases, 2 cases of balanced translocation, and other chromosomal abnormalities in 25 cases; High risk NTD diagnosis of neural tube defects in 5 cases. Follow-up found that 21 cases missed three cases of trisomy, misdiagnosis of neural tube defects in 4 cases. 21-trisomy detected rate of 76.92%. Conclusion Triple trimester serological screening at the second trimester has a higher detection rate of chromosomal abnormalities and is effective in reducing the birth of defective children, which is of great significance for improving the quality of the birth population.