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目的探讨超声筛查联合血清生化指标检测在产前21-三体和18-三体综合征诊断中的价值。方法选择4 862例在孕15~20+6周接受染色体异常筛查的正常单胎孕妇作为研究对象。对接受产前筛查的孕中期孕妇行血清甲胎蛋白(AFP)、游离人绒毛膜促性腺激素(Free-β-h CG)、雌三醇(u E3)等血清生化指标检测和超声筛查,应用软件计算风险值,以21-三体和18-三体综合征风险率作为风险截断值,对高风险孕妇产前诊断同时进行超声筛查。结果 4 862例接受筛查的孕妇中,随访成功2 578例,筛查阳性后,23例染色体异常,血清学高危142例,联合筛查阳性率为1.55%,确诊16例21-三体综合征和6例18-三体综合征,检出率为95.65%。联合筛查检出率显著高于单纯血清学筛查和超声筛查(χ~2=6.36,P=0.04)。结论针对孕中期孕妇采用超声筛查联合血清生化指标检测进行产前诊断,胎儿染色体病产前诊断检出率明显高于单纯超声筛查或单一的血清生化指标检测,同时产前筛查假阳性率大大降低。
Objective To investigate the value of ultrasound screening combined with serum biochemical markers in the diagnosis of prenatal 21-trisomy and 18-trisomy syndrome. Methods A total of 4 862 pregnant women with normal singleton pregnancies undergoing screening for chromosomal abnormalities at 15-20 + 6 weeks of gestation were selected as study subjects. Serum a-fetoprotein (AFP), Free-β-hCG and uE3 were detected in serum of pregnant women receiving prenatal screening, Check, the application of software to calculate the risk value, risk of 21-trisomy and 18-trisomy syndrome as a cut-off value, prenatal diagnosis of high-risk pregnant women simultaneously ultrasound screening. Results Among the 4 862 pregnant women who were screened, 2 578 were followed up successfully. After screening positive, 23 cases were chromosomal abnormalities and 142 cases were serological high risk. The positive rate of combined screening was 1.55%. Twenty-six cases of 21-trisomy Sign and 6 cases of 18-trisomy syndrome, the detection rate was 95.65%. The detection rate of combined screening was significantly higher than that of simple serological screening and ultrasound screening (χ ~ 2 = 6.36, P = 0.04). Conclusions The prenatal diagnosis of pregnant women with mid-term pregnancy by ultrasound screening combined with serum biochemical markers detection was significantly higher than that of single ultrasound screening or single serum biochemical detection. At the same time, prenatal screening false positive The rate is greatly reduced.