早中孕产前超声检查在染色体非整倍体异常胎儿中的诊断价值  

Clinical value of eatly-mid trimester ultrasound scan in the diagnosis of ehromosomal aneuploidy abnormalities

作　　者：陈秋妍[1] 张茜[1] 郭红梅[1] 曾秀梅[1] 

机构地区：[1]广东省东莞市妇幼保健院超声科,广东东莞523000

出　　处：《医学影像学杂志》2016年第3期500-502,506,共4页Journal of Medical Imaging

摘　　要：目的：探讨早中孕期产前超声检查在染色体非整倍体异常胎儿中的诊断价值。方法对2014年3月～2015年10月在我院经羊水细胞、脐血细胞及绒毛细胞染色体核型分析诊断为非整倍体异常的38例胎儿早中孕期（11～28周）产前超声异常声像图进行总结分析。结果38例羊水细胞染色体核型分析确诊为非整倍体异常的胎儿中超声显示异常32例（84．2％，32／38），包括21-三体17例（17／23）、18-三体11例（11／11）、13-三体2例（2／2），45，X 2例（2／2）。其中单发畸形10例（31．2％，10／32），多发畸形12例（37．6％，12／32），仅表现为超声软指标10例（31．2％，10／32）。18-三体、13-三体、45，X胎儿均有超声结构异常，18-三体胎儿中8例表现为超声结构异常合并软指标异常。21-三体胎儿中10例，仅表现为超声软指标异常，7例表现为超声结构异常合并软指标异常。38例非整倍体异常胎儿中以心脏畸形检出例数居多（31．5％，12／38），而颈部淋巴水囊瘤是45，X胎儿的典型超声表现。结论非整倍体异常胎儿常伴有异常的超声声像图表现，部分还有相应的典型超声畸形谱和超声软指标，早中孕期产前超声检查作为非侵入性检查技术对于非整倍体异常胎儿的诊断有重要价值。Objective To investigate the clinical application of eatly-mid trimester ultrasound scan in the diagnosis of ehromo-somal aneuploidy abnormalities .Methods Early-mid trimester ultrasound imaging features in 38 aneuploidy abnormal fetuses which were diagnosed by CVS , amniocentesis and umbilical vein puncture in our hospital from April 2014 to Octocber 2015 were analyzed retrospectively .Results 38 cases of aneuploidy abnormalities dectected by CVS , amniocentesis and umbilical vein puncture were examined by prenatal ultrasound .Of these cases, 32 were found abnormalities , including 17 with trisomy 21, 11 with trisomy 18, 2 with trisomy 13 and 2 with 45.X monomer.Prenatal ultrasound showed single malformation in 10 cases.multi-malformation in 12 cases and separate ultrasonographic soft markers in 10 cases.Fetuses with trisomy 1 8.trisomy 1 3 and 45.X monomer were all had obvious structural abnormalities detected by ultrasound , otherwise.10 cases of trisomy 2 1 had only ultra-sonographic soft markers .In these aneuploidy abnormal fetuses , the highest incidence of sonogranl abnormalities were cardiac de-fects （12/38, 31.5%）.Cystic hygroma of the neck was considered as the extremely important ultrasonographic marker in 45.X monomer.Conclusion The fetus with aneuploidy abnormalities almost have abnormal images of ultrasound , and some have char-acteristic images and ultrasonographic soft markers .As a non-invasive technique , eatly-mid trimester uhrasonography has impor-tant clinicaI significance in diagnosing aneuploidy abnormalities .

关 键 词：早中孕期超声检查 产前 非整倍体 结构异常 超声软指标 

分 类 号：R714.5[医药卫生—妇产科学] R445.1[医药卫生—临床医学]