超声在染色体异常胎儿产前诊断中的意义

目的探讨超声在染色体异常胎儿诊断中的意义。方法对42例经染色体核型检查确诊为21三体、13三体、18三体和Turner综合征胎儿的声像图特点进行回顾性分析。结果42例染色体异常胎儿中37例（88．10％）存在1种或以上的异常声像，其中21三体14例（14／19），18三体13例（13／13），Turner综合征5例（5／5），13三体3例（3／3），三倍体2例（2／2）。18三体胎儿中8例（8／13）存在心脏畸形，7例（7／13）存在七肢异常。Turner综合征3例（3／5）表现为颈部淋巴水囊瘤、胎儿水肿、胸腔积液。结论染色体异常胎儿多伴有异常声像图表现，部分染色体异常胎儿具有相应的典型声像图表现，故超声检查作为细胞染色体诊断前的筛选方法具有重要的临床意义。

The significance of ultrasound in prenatal diagnosis of chromosome abnormality

Objective To explore the significance of ultrasound in prenatal diagnosis of abnormal chromosome. Methods The fetal sonograms of 42 cases with abnormal chromosome were reviewed including trisomy 21, trisomy 13, trisomy 18 and Turner syndrome, which were diagnosed by karyotype analysis. Results At least one or more than one abnormal fetal sonograms were detected in 37 fetuses （88.10%）. Of all 14 cases in trlsomy 21 （14/19）, 13 cases in trlsomy 18（13/13） ,5 cases in Turner syndrome（5/5）, 3 case in trisomyl3（3/3）, 2 case in Triploidy（2/2） were included. There were 8 cases with cardiac abnormalitis and 7 cases with abnormal epipodite in trisomy 18 group; 3 cases with Turner syndrome had cystic hygromas, fetal hydrops, pleural effusion. Conclusions The fetus with abnormal chromosome almost have ab- normal image of ultrasound, some fetuses have characteristic image. As a screening technique before karyotype analysis ultrasound have important clinical significance. Thus the patients who have abnormal image of ultrasound should be analyzed completely and be suggested positively to diagnose by karyotype analysis.