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目的探讨超声对于胎儿畸形的诊断筛查作用,分析其临床意义。方法选取2009年1月～2012年1月在某科进行产前筛查诊断为先天性畸形的胎儿并分析其临床资料。结果①彩超筛查发现胎儿畸形共计83例,其中中枢神经21例,心血管15例,颜面部畸形13例,四肢及骨骼畸形7例,前腹壁缺陷5例,颈水囊瘤5例,呼吸系统畸形5例,消化系统及泌尿生殖系统畸形各3例,其他畸形6例。②中枢神经系统、心血管及颜面部的畸形相对多见,分别占25.3%,18.1%和15.7%;20周以内检查中,以中枢神经系统畸形最多,占38.5%;20～24周中,中枢神经系统畸形占23.7%,心血管畸形和颜面部畸形占15.8%,四肢骨骼畸形为13.2%;超过24周的畸形胎儿,中枢神经系统占21.8%,心血管系统占46.9%,颜面部为21.8%。③经随访及产后检查发现,超声诊断中误诊为2例,均为唇裂,而漏诊5例,为多发畸形中足内翻2例,单纯腭裂1例,唇裂1例,先天性房间隔缺损1例。胎儿缺陷的超声诊断灵敏度达94.3%,特异度达99.9%,阳性预测值97.6%,阴性预测值99.8%,以及与产后临床诊断的符合率99.9%。结论超声对胎儿畸形的产前筛查具有重要的意义,应掌握不同孕周的胎儿超声下的图像特点,为临床诊断提供参考。
Objective To investigate the diagnostic and screening effect of ultrasound on fetal malformations and analyze its clinical significance. Methods From January 2009 to January 2012, fetuses diagnosed as congenital malformations by antenatal screening in a certain department were analyzed and their clinical data were analyzed. Results ① The results of color ultrasonography showed that there were 83 cases of fetal malformations, including 21 cases of central nervous system, 15 cases of cardiovascular diseases, 13 cases of facial deformities, 7 cases of limbs and skeletal deformities, 5 cases of anterior abdominal wall defects, 5 cases of cervical spondylocyst tumors, 5 cases of system deformity, digestive system and genitourinary system deformity in 3 cases, 6 cases of other deformities. ② The deformities of the central nervous system, cardiovascular and facial parts were relatively common, accounting for 25.3%, 18.1% and 15.7% respectively; in the examination of less than 20 weeks, the deformities of the central nervous system were the most, accounting for 38.5%; in 20 to 24 weeks, Central nervous system malformations accounted for 23.7%, cardiovascular malformations and facial facial deformities accounted for 15.8%, limb skeletal deformities was 13.2%; more than 24 weeks of fetal malformations, central nervous system accounted for 21.8%, cardiovascular system accounted for 46.9%, facial Ministry 21.8%. ③ After follow-up and postnatal examination found that ultrasound diagnosis of misdiagnosed as 2 cases, are cleft lip, and missed diagnosis of 5 cases, multiple malformations varicocele in 2 cases, cleft palate in 1 case, cleft lip in 1 case, congenital atrial septal defect 1 example. The diagnostic sensitivity of fetal ultrasound was 94.3%, the specificity was 99.9%, the positive predictive value was 97.6%, the negative predictive value was 99.8%, and the coincidence rate with postpartum clinical diagnosis was 99.9%. Conclusion Ultrasound has an important significance on prenatal screening of fetal malformations. It is necessary to know the characteristics of the fetuses under different gestational weeks and to provide reference for clinical diagnosis.