系统产前超声检查在胎儿先天性畸形中的应用

目的探讨中国医师协会超声医师分会公布的“产前超声检查指南”系统产前超声检查（Ⅲ级）胎儿畸形的应用价值，以此提高产前胎儿畸形的检出率。方法2912年10月至2014年2月间在我院接受胎儿系统检查的单胎孕妇521例。以“产前超声检查指南”为检查标准对胎儿进行系统超声检查：（1）对确诊的6大致死性胎儿畸形（产前诊断技术管理办法公布的无脑儿、脑膨出、开放性脊柱裂、胸腹壁缺损内脏外翻、单腔心及致死性软骨发育不全）建议临床终止妊娠；（2）对6大畸形以外的胎儿畸形进行跟踪随访；（3）对疑有染色体异常或难以确定的胎儿畸形病例进行转诊。结果521例单胎孕妇中检出致死性畸形5例（无脑儿I例，脑膨出2例，腹裂内脏外翻1例，单心室1例），唇裂2例，唇腭裂1例，一侧肾积水2例，孤立性肾缺如1例，膈疝2例，肺囊腺瘤2例，单脐动脉2例，十二指肠闭锁2例，共计19例，其中漏诊和误诊各1例。结论“产前超声检查指南”临床应用，易于操作，遵循规范系统超声检查有利于提高胎儿畸形的检出率，避免漏诊率。

The application of system prenatal ultrasound in fetal congenital malformation.

Objective： To access the system diagnosis （gradeⅢ） fetal congenital malformation vule of prenatal ultrasound diagnosis guide pulished by the branch of ultrasound doctor association of Chinese medical doctor association, In order to improve the prenatal detection rate of fetal malformations. Methods： Totally, 521 pregnant women underwent fetal echocardiography from October, 2012 to February, 2014 in our hospital, put the prenatal ultrasound diagnosis guide as diagnosis standard to screen. 1. It is diagnosis the deadly fetal abnormalities of 6 category （no brain child, encephalocele, open spina bifida, abdominal wall defects visceral valgus, single-chamber and lethal achondroplasia） , clinical recommended termination of pregnancy. 2. Follow- up fetal malformations except for the 6 category. 3. It could be referral for the suspected cases of fetal chromosomal abnormalities or fetal malformations difficult to determine. Results： Totally 521 cases with follow-up resultes were deadly malformation in 5 cases （no brain child one case, encephalocele two cases, one case of gastroschisis visceral valgus, single ventricle one case） , tow cases of cleft lip, one cases of side hydronephrosis, one cases of solitary renal agenesis, two cases of diaphragmatic, two cases of hernia, two cases of pulmonary cystadenoma, two cases of single umbilical artery, two cases of duodenal atresia, a total of 19 cases, including two case of misdiagnosis. Conclusion： The clinical applications of prenatal ultrasound diagnosis guide easy to operate, follow the norms ultrasound system, it will help improve the detection rate of fetal malformations and avoid misdiagnosis rate.