妊娠11^(+0)～13^(+6)周胎儿颌面角对胎儿染色体非整倍体异常诊断价值的研究

Value of Fetal Frontomaxillary Facial Angle in Diagnosing Fetal Chromosomal Aneuploidy at 11^(+0) to 13^(+6) Weeks of Gestation

目的探讨妊娠11^(+0)～13^(+6)周胎儿颌面角对胎儿染色体非整倍体异常的诊断价值。方法随机选取2015年1月至2016年8月在我院行胎儿颈项透明层厚度(NT)检查的单胎妊娠胎儿(妊娠11^(+0)～13^(+6)周),测量胎儿的头臀长(CRL)、NT和颌面角(FMFA)。随访胎儿的染色体检查结果。比较染色体整倍体胎儿与非整倍体胎儿的FMFA是否存在差异。采用线性回归分析评价染色体整倍体胎儿FMFA与CRL是否具有相关性。采用受试者工作特征曲线(ROC曲线)评估FMFA测量对于识别胎儿染色体非整倍体异常的诊断价值。结果染色体整倍体胎儿FMFA为80.61°(79.94°~81.28°),非整倍体胎儿FMFA为91.24°(90.21°~92.25°);染色体整倍体胎儿NT为1.63mm(0.90~2.43mm),非整倍体胎儿NT为4.18mm(3.12~5.44mm)。染色体整倍体胎儿与非整倍体胎儿之间FMFA及NT的差异均有统计学意义(P<0.01)。整倍体胎儿FMFA随CRL增加而减小(y=-0.320 8x+100.32)。ROC曲线的曲线下面积为0.960,当FMFA为87.5°时,FMFA诊断胎儿染色体非整倍体异常的敏感性为90.5%,特异性为94.3%。结论妊娠11^(+0)～13^(+6)周,染色体非整倍体胎儿的FMFA明显大于整倍体胎儿;FMFA对胎儿染色体非整倍体异常具有较大的诊断价值。

Objective To determine the value of fetal Frontomaxillary facial angle （FMFA） in diagnosing chromosomal aneuploidy at 11^＋0-13^＋6 weeks of pregnancy. Methods Singleton pregnancies were randomly selected from January 2015 to August 2016 in our hospital. The crown-rump length （CRL）, nuchal translucency （NT） and FMFA of the fetuses were measured and recorded, followed by chromosomal tests. FMFA and NT of the euploid fetuses were compared with those of the aneuploidy fetuses. A linear regression model was established between FMFA and CRL. The specificity and sensitivity of FMFA for diagnosing aneuploidy were assessed using the receiver operating characteristic （ROC） curve. Results The euploid fetuses had 80.61° （79.94°-81.28°） FMFA, compared with 91.24° （90.21°-92.25°） in the aneuploidy fetuses. The euploid fetuses had 1.63 mm （0.90-2.43 mm） NT, compared with 4.18 mm （3.12-5.44 mm） NT in the aneuploid fetuses. The differences were statistically significant （P〈0.01）. A negative correlation between CRL and FMFA was found in the euploid fetuses（y= -0. 320 8x＋100.32）. FMFA had a sensitivity of 90.50% and a specificity of 94.3% for diagnosing chromosomal aneuploidy with a cut-off value of 87.5° and 0. 960 of the area under the curve. Conclusion Aneuploid fetuses have significantly greater FMFA than euploid fetuses at 11^＋0 to 13^＋6 weeks of gestation.