目的：探讨孕早期标准化超声切面筛查胎儿结构畸形的临床意义。方法应用8个标准化超声切面对2008年9月至2011年3月在首都医科大学附属北京妇产医院超声检查的3134例孕11~13+6周胎儿进行筛查。8个标准化超声切面包括：胎儿纵切面、颈项矢状切面、颅脑切面、胸部切面、腹部切面、膀胱切面、上肢和下肢切面。孕早期未发现异常的胎儿均于孕20~24周及28~32周进行超声检查，追访胎儿妊娠结局。结果3134例胎儿超声筛查及随访结果：（1）孕早期（11~13+6周）超声筛查诊断胎儿异常16例，包括部分颅骨缺损、脑膜脑膨出1例，心内膜垫缺损合并单脐动脉1例，胸外心、腹裂合并脊柱异常1例，露脑畸形2例，无脑畸形1例，腹裂合并下肢畸形1例，脐膨出2例，部分颅骨缺损、胸外心合并腹裂1例，单心室1例，心内膜垫缺损1例，胎儿水肿4例。超声筛查后16例异常胎儿中引产13例，大体标本及尸检与超声筛查结果相符合；3例水肿胎儿在孕中晚期超声筛查中未见异常表现，出生后未见异常。（2）孕中期（20~24周）超声筛查诊断胎儿结构畸形7例，包括右位心伴右心室双出口1例，心内膜垫缺损2例，室间隔缺损1例（羊水穿刺证实染色体核型为21-三体），脐膨出1例，尺桡骨短伴腕关节畸形1例，足内翻1例。（3）孕晚期（28~32周）超声筛查诊断胎儿膈疝1例；出生后诊断新生儿心脏室间隔缺损1例，耳畸形1例。（4）胎儿出生后随访到2822例（90%，2822/3134），失访312例（10%，312/3134）。2822例随访结果证实，孕早、中、晚期超声标准切面筛查诊断胎儿单发或多发严重结构畸形与产后检查结果相符合23例；其中孕早期标准化超声切面筛查诊断胎儿严重结构畸形13例；超声诊断敏感度56.5%（13/23），特异度99.9%（2796/2799），符合率99.6%（2812/2822）；漏诊率43.5%（10/23，4例心脏畸形，1例脐膨出，2例肢体双足畸形；1例膈疝均于孕中晚期连续筛查检出，2例畸形出生后诊断）。结论孕早期标准化超声筛查切面能检出露脑、无脑、腹裂、脐膨出、胸外心及单心室等严重胎儿畸形。但孕早期超声筛查胎儿畸形有一定局限性，对复杂性心脏大血管畸形、肢体等畸形需待孕中晚期超声检查时诊断。因此，建立孕早、中、晚期连续动态筛查系统非常必要。%Objective The clinical value of ifrst-trimester standard ultrasound views in screening for fetal structural abnormalities. Methods From September 2008 to March 2011, transabdominal sonographic screening by standard ultrasound views was performed in 3 134 viable singleton pregnancies during the ifrst trimester at Beijing Obstetrics and Gynecology Hospital. Used the following views:(1) Fetal proifle;(2) Neck sagittal;(3) Skull and brain;(4) Thorax;(5) Abdomen;(6) Bladder;(7) Upper limbs, and (8) Lower limbs. The women underwent 20-to 24-week and 28-to 32-week ultrasound examination if the anatomical survey was normal during the ifrst trimester. Follow-up was obtained by reviewing of the birth records from hospital charts. Results Sixteen prenatal abnormalities were detected at 11-to 13-week scan (including one case of encephalocele and meningoceles, one case of endothelial cushion defect and single umbilical artery, one case of ectopia cordis, gastroschisis, and spinal abnormalities, two cases of exencephaly, one case of anencephaly, one case of gastroschisis and lower limb malformation, two cases of omphalocele, one case of encephalocele, ectopia cordis, and gastroschisis, one case of single ventricle, one case of endothelial cushion defect, four cases of hyhrop). All of the 13 women decided on termination of pregnancy. Three suspected structural abnormalities (hydrops) detected at the ifrst-trimester scan were found as normal after birth. Seven cases were diagnosed at 20-to 24-week scan (including one case of dextrocardiac and double outlet right ventricle;two cases of endothelial cushion defects;one case of trisomy 21 with VSD;one case of omphalocele, one case of short ulna and radial with wrist distortion, and one case of club foot). One case of diaphragmatic hernia was detected at 32-week scan. Two cases (one case of cardiac defects and one case of ear deformity) were identified after birth. Of all the 3 134 fetuses, follow-up was obtained in 2 822 cases, 312 cases were excluded from the analysis because the outcome of their pregnancy could not be traced. Twenty-three fetuses with at least one major structural defect detected by prenatal ultrasonography were confirmed by follow-up. The sensitivity of the standard first-trimester ultrasound views was 56.5%(13/23), speciifcity was 99.9%(2 796/2 799), CR was 99.6%(2 812/2 822), and the false negative rate was 43.5%(10/23). Conclusions The standard views of the ifrst trimester are feasible and effective in screening the major fetal abnormalities including exencephaly, anencephaly, gastroschisis, omphalocele, ectopia cordis and single ventricle. However, ultrasound screening in early pregnancy still has some limitations, continuous scanning in different stages of pregnancy is necessary.
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