【摘要】 目的探讨早孕期超声筛查对胎儿结构异常的提示意义及诊断价值。方法将我院行早孕期NT超声筛查、孕周在11～13⁺⁶周（CRL 45～84mm）的2 121个胎儿作为研究对象,筛选出早孕期结构异常可能胎儿,结合中晚孕超声检查及胎儿染色体检查并获得其最终结局,分析妊娠11～13⁺⁶周超声筛查胎儿结构异常的诊断价值。结果纳入本研究孕妇2 087例（2 121个胎儿,其中双胎34例）,早孕期超声提示胎儿异常68例（3.21%,68/2 121）,其中胎儿结构异常19例（0.89%,19/2 121）,早孕期未见而随访出现结构异常33例（1.56%,33/2 121）,胎儿结构异常早孕期诊断阳性率为94.73%（18/19）,当出现染色体软指标异常合并结构异常时诊断阳性率达100%（7/7）。早孕期超声筛查胎儿结构异常灵敏度35.29%、特异度99.95%、阳性似然比730.59、阴性似然比0.65、Youden指数（γ）35.24%。结论妊娠11～13⁺⁶周超声筛查对胎儿重大结构畸形有重要的提示意义。联合染色体异常指标可提高诊断准确性,仍有部分异常需中、晚孕超声检查予以补充。更多还原

【Abstract】 Objective To explore the significance and the diagnostic value for fetal structural abnormality by ultrasound screening at 11-13⁺⁶ weeks of gestation.Methods 2121 cases undergoing ultrasound screening at 11-13⁺⁶ weeks of gestation（CRL 45-84 mm）were selected.Fetal structural abnormality was screened by ultrasound.The pregnancy outcomes were obtained referring to the second and third trimester ultrasound and fetal chromosome examination.The diagnostic value of ultrasound screening for fetal structural abnormality was analyzed.Results A total of2087 pregnant women（2121 fetuses,34 twins）were enrolled in this study,68 cases（3.21%,68/2121）were suspicion of abnormal during the first trimester,19 cases（0.89%,19/2121）were structural abnormalities,33 cases（1.56%,33/2121）were normal during early pregnancy but abnormal during the follow-up.The positive diagnosis rate of abnormal early pregnancy diagnosis was 94.73%（18/19）,when combining with chromosomal abnormality index it was up to 100%（7/7）.The sensitivity,specificity,positive likelihood ratio,negative likelihood ratio,and Youden index of ultrasound were 35.29%,99.95%,730.59,0.65 and 35.24%,respectively.Conclusions The ultrasound screening at 11-13⁺⁶ weeks of gestation has significant implications for fetal major structural malformation.It could improve the diagnostic accuracy combining with chromosomal soft marks.But some abnormalities still need to be supplemented by the ultrasonic screening in the second and third trimester.更多还原