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目的探讨母体血清妊娠相关血浆蛋白-A(PAPP-A)、游离β-人绒毛膜促性腺激素(Fβ-h CG)联合胎儿颈项透明层(NT)超声在孕早期胎儿染色体非整倍体异常筛查中的应用价值。方法回顾性分析3 300例孕早期妇女临床资料,所有产妇均于该院行正常产检,且均行血清PAPP-A、Fβ-h CG检测和胎儿NT超声检查。对血清PAPP-A、Fβ-h CG水平和NT超声检查结果判定胎儿染色体非整倍体异常情况,并以引产或妊娠结局为金标准,绘制受试者工作特征(ROC)曲线,测定最佳检测节点和联合检测应用价值。结果 3 300例受试者中共有16例胎儿染色体非整倍体异常,其发生率为0.48%,其中21-三体异常占50.00%,18-三体异常占25.00%,13-三体异常占18.75%,45X异常占6.25%;染色体非整倍体异常组母血血清PAPP-A水平明显低于染色体正常组(P<0.05),而母血血清Fβ-h CG水平和NT厚度前者均远远高于后者(P<0.05);母血血清Fβ-h CG、PAPP-A和NT厚度在胎儿染色体非整倍体异常筛查中最佳节点分别为4.89 U/L、2.57 U/L和2.52 mm,且曲线下面积(AUC)分别为0.751、0.739、0.826,联合检测AUC最大,为0.896;联合检测准确度、阳性预测值均明显高于母血血清学指标检测,且其阳性预测值也明显高于NT厚度检测。结论母体血清PAPP-A、Fβ-h CG联合胎儿NT超声在孕早期胎儿染色体非整倍体异常筛查中可明显提高准确度和阳性预测值,具有推广价值。
Objective To investigate the relationship between maternal serum pregnancy-associated plasma protein-A (PAPP-A) and free β-human chorionic gonadotropin (Fβ-h CG) and fetal neck clear layer (NT) ultrasonography in the first trimester of fetal chromosomal aneuploidy The value of screening. Methods The clinical data of 3 300 pregnant women in early pregnancy were retrospectively analyzed. All the mothers gave birth in this hospital. The serum PAPP-A, Fβ-h CG and fetal NT were examined. The abnormality of fetal aneuploidy was judged by the level of serum PAPP-A, Fβ-hCG and NT ultrasonography, and the working characteristic (ROC) curve of the subjects was drawn with induction of labor or pregnancy outcome as the best standard Detection nodes and joint detection of application value. Results There were 16 fetus aneuploidy abnormalities in 3 300 subjects, the incidence of which was 0.48%. Among them, the 21-trisomy was 50.00%, the 18-trisomy was 25.00%, the 13-trisomy was abnormal Accounting for 18.75%, 45X anomalies accounting for 6.25%; abnormal chromosome aneuploidy group maternal serum PAPP-A levels were significantly lower than normal chromosome group (P <0.05), while maternal serum Fβ-hCG level and NT thickness of the former (P <0.05). The best nodes of Fbs-hCG, PAPP-A and NT in maternal blood were 4.89 U / L and 2.57 U / L respectively in the screening of abnormal fetal aneuploidy, L and 2.52 mm, and the area under the curve (AUC) were 0.751,0.739,0.826, the combined detection AUC was the largest, 0.896; the combined detection accuracy and positive predictive value were significantly higher than the maternal serum serological detection, and its positive The predicted value is also significantly higher than the NT thickness test. Conclusion The positive serum PAPP-A and Fβ-h CG combined with fetal NT ultrasound can significantly improve the accuracy and positive predictive value in the screening of fetal chromosomal aneuploidy in the first trimester of pregnancy, which has the promotion value.