中晚孕期产前超声筛查胎儿畸形的临床价值

Clinical value of ultrasound on the prenatal diagnosis of fetal malformation in middle and late pregnancy

目的探讨产前超声检查对胎儿畸形类别的检出效果及胎儿畸形超声检查适宜孕期。方法回顾性分析2006～2008年产前超声诊断为胎儿畸形,经引产或产后证实的病例。按照畸形系统分类,分析各类畸形的超声检出时间;并按照超声检出孕周分组,中孕期分为孕24周内检出组及孕25～28周检出组,晚孕期分为孕29～32周检出组及孕32周以上检出组,分析中孕期及晚孕期超声筛查畸形的价值,探讨超声筛查的适宜时机。结果经证实的胎儿畸形74例,中枢神经系统畸形占首位,其次为颜面部畸形、心血管系统畸形、胎儿肿瘤、脐膨出、腹裂、联体双胎、骨骼及肢体畸形、泌尿系统畸形、呼吸系统畸形、消化系统畸形。孕24周内全部检出的畸形有无脑儿、淋巴水囊瘤、脑膨出、长骨短小、联体双胎等,而脑积水、唇裂、心血管畸形及其他畸形等孕24周内检出率较低。结论产前超声对于诊断胎儿结构异常有着非常重要的临床价值;部分畸形中孕期超声表现不明显,孕晚期超声仍要注意对胎儿颜面部、颅脑、心脏等系统器官的扫查,减少相应畸形的漏诊。

Objective To evaluate the value of ultrasonography in detecting fetal malformation and suitable time of the prenatal screening. Methods A retrospective analysis was performed in the cases which had been diagnosed to be fetal malformation by ultrasound in our hospital from 2006 to 2008,and these cases had been confirmed by induced labor or post partum. Malformation was classified systematically and was grouped following checked pregnance week. Middle pregnancy includes the group less than 24 weeks and the group from 25 to 28 weeks. Late pregnancy was divided into group from 29 to 32 weeks and group more than 32 weeks. The value of prenatal screening using ultrasound in middle and late pregnancy was analysed and suitable time of prenatal screening was discussed. Results 74 fetal malformation cases were detected by ultrasound. Most of them was central nervous system,others were fetal facial,heart,tumor,acromphalus,abdominal wall defect,conjoined twins,skeletal and podosoma deformity,genitourinary tract abnormalities,respiratory system and gastrointestinal abnormality. Those malformations were all detected less than 24 pregnancy week such as anencephaly,cystic hygroma of the neck,encephalocele,micromelia,conjoined twins etc. The detection rate in other malformations is low less than 24 pregnancy week such as hydrocephalus,cleft lip,fetal heart deformity etc. In all cases,the detection rate in group less than 24 weeks and group from 29 to 32 weeks was high,80% malformations were detected in the two groups. Conclusions Ultrasonography has great value in diagnosing fetal malformation. Because some deformities do not appear obviously in middle pregnancy,we should pay more attention to fetal face,head and heart in late pregnancy in order to decrease missed diagnosis.