摘要
目的探讨肠管强回声合并染色体异常胎儿的产前超声声像图特征。方法选取2009年9月至2013年6月在南京医科大学附属苏州医院产前超声检出的80例肠管强回声胎儿行染色体核型分析并随访至产后,产前超声与产后检查结果对照分析。结果 80例肠管强回声胎儿产前超声及染色体检查结果:(1)单纯肠管强回声胎儿58例(72.5%,58/80,均无染色体异常),产前超声筛查无其他异常发现。(2)合并超声软指标异常11例(13.8%,11/80,均无染色体异常),超声显示脉络丛囊肿8例,单脐动脉1例,鼻骨偏短1例,心室点状强回声1例。(3)合并严重结构异常或复合结构畸形但无染色体异常5例,超声显示心脏结构畸形3例,心衰1例,中枢神经系统畸形2例。其中1例为复合畸形,表现为右心室发育不良综合征伴发小脑发育不良及单脐动脉,其余4例均为单发畸形,且无其他软指标异常。(4)合并染色体异常6例(7.5%,6/80),3例染色体结构异常,3例染色体数目异常(21-三体1例,18-三体1例,双胎之一三倍体1例),均合并严重结构畸形及软指标异常;超声显示严重心脏畸形2例,中枢神经系统畸形2例,心包腔积液合并腹腔积液1例,胎盘绒毛膜多发性血管瘤1例。其中1例双胎输血综合征胎儿合并全前脑(输血儿)宫内死亡;伴发的软指标异常包括颈项软组织层(NF)增厚、脉络丛囊肿,脐带囊肿,单脐动脉,胎盘绒毛膜血管瘤等。结论单纯肠管强回声胎儿预后良好,临床随访过程中部分肠管强回声可消失;合并严重结构畸形和染色体异常的胎儿预后差,产前超声检出肠管强回声应行系统超声检查并提示临床对胎儿行染色体核型分析。
Objective To explore the prenatal ultrasonographic features of fetuses diagnosed as echogenic bowel and chromosomal abnormalities.Methods From September 2009 to June 2013,eighty cases diagnosed as echogenic bowel by prenatal ultrasound screening in our hospitals underwent chromosomal karyotype analysis and were followed up till fetal birth.The prenatal ultrasonographic features were carefully correlated with the postnatal findings.Results Prenatal ultrasoundand chromosomal findings of the 80 cases were：（1） Fifty-eight cases of fetuses with echogenic bowel alone（72.5%,58/80,without chromosomal karyotype abnormalities）.（2） Eleven cases of fetuses with additional ultrasound soft markers（13.8%,11/80,without chromosomal karyotype abnormalities）.The ultrasound examination revealed 8 cases of choroid plexus cysts,1 case of single umbilical artery,1 case of shorter nasal bone,and 1 case of echogenic intracardiac focus.（3） Five cases of fetuses with severe functional abnormalities or complex structural malformations and normal chromosomal karyotype.The ultrasound examination revealed 3 cases of structural cardiac malformations,1 case of heart failure and 2 cases of central nervous system malformations.Of them, one case showed complex malformations（right ventricular dysplasia syndrome,cerebellar dysplasia and single umbilical artery）,whereas the remaining 4 cases only involve single malformation.（4）Six cases had chromosomal abnormalities（7.5%,6/80）,including 3 cases of abnormal chromosome microdeletions,and 3 cases of abnormal chromosome numbers（1 21-trisomy syndrome,1 18-trisomy syndrome,and 1 triploid syndrome）.All of them had severe structural malformations and abnormal soft markers.The ultrasound examination revealed 2 cases of severe cardiac malformations,2 cases of central nervous system malformations,1 case of pericardial/peritoneal effusion,and 1 case of placental chorionic multiple hemangioma.One case of holoprosencephaly（donor of the twins） ended with intrauterine death.T
出处
《中华医学超声杂志（电子版）》
2013年第10期49-53,共5页
Chinese Journal of Medical Ultrasound(Electronic Edition)
关键词
超声检查
产前
胎儿
肠回声增强
胚胎结构
染色体畸变
Ultrasonography prenatal Fetus Echogenic bowel Embryonic structures Chromosome aberrations
