孕11~13^(+6)周胎儿额面角与染色体非整倍体异常的相关性

Fetal aneuploidy screening using frontomaxillary facial angle at 11-13^(+6) weeks

目的通过超声测量孕11~13+6周胎儿额面角,探讨超声软指标与胎儿染色体非整倍体的相关性,并评估其临床价值。方法于孕早期11~13+6周用传统超声标记物和血清学指标对658例孕妇进行风险评估,对331例高风险孕妇行产前染色体核型分析,比较所有核型正常组(627例)与非整倍体组(31例)间额面角超声数据差异,同时用回归模型分析额面角与颈部透明膜厚度(NT)、妊娠相关蛋白(PAPP-A)和游离人绒膜促性腺激素β亚单位(fβ-HCG)的关联性,用受试者工作特征曲线(ROC)评估额面角测量对于识别胎儿染色体非整倍体的特异性和敏感性。结果孕早期染色体非整倍体胎儿额面角(91.5±5.0)°显著大于正常组(82.6±3.9)°(P<0.05);额面角与NT(r=0.006,P=0.843)、PAPP-A(r=0.016,P=0.802)和fβ-HCG(r=0.109,P=0.841)均无显著关联;ROC曲线表明当额面角为88.6°时,对于提示胎儿染色体非整倍体的敏感性达到68.4%,特异性为81.4%,曲线下面积为0.776。结论额面角与孕早期胎儿染色体异常显著相关,可作为孕早期提示胎儿染色体非整倍体的补充标记物。

Objective To evaluate the significance of frontomaxillary facial（ FMF） angle at 11-13^＋ 6week gestation in the prediction of fetal aneuploidy. Methods Possible differences of FMF angle between the groups of fetal euploidy（ n = 627） and aneuploidy（ n = 31） were tested in southern China. A regression model was used to assess the correlation between the FMF angle and NT,free- hCG MoM,and PAPP- A MoM. Specificity and sensitivity of FMF angle for fetal aneuploidy were assessed using the receiver operating characteristic（ ROC） curve. Results In aneuploidy group,FMF was significantly greater（ 91. 5 ± 5. 0）°vs（ 82. 6 ± 3. 9）°,P〈0. 05） than that of normal group. There was no significant association between the FMF angle and NT（ r = 0. 006,P = 0. 843）,maternal serum PAPP- A（ r = 0. 016,P = 0. 802） or maternal serum fβ- hCG（ r = 0. 109,P = 0. 841） in euploid fetuses. Based on the ROC curve analysis,the best cut off value of FMF angle for indicating fetal aneuploidy was 88. 6°with a sensitivity of 68. 4% and a specificity of 81. 4%. The area under the curve was 0. 776. Conclusion FMF angle can be a useful complementary first trimester markers for fetal aneuploidy.