18-三体综合征胎儿产前超声表现分析

Analysis the Prenatal Ultrasonography Manifestation of Trisomy 18 Syndrome

目的探讨18-三体综合症胎儿的产前超声表现及超声检查临床价值。方法回顾性分析24例经羊膜腔穿刺或脐血穿刺染色体核型检查确诊为18-三体综合征胎儿的超声表现。结果确诊的24例18-三体综合征胎儿均有两个及以上异常超声表现,常见超声表现主要为心脏畸形,其次是脉络丛囊肿,四肢骨骼或姿势异常,羊水多,还可见到胎儿生长受限,单脐动脉,草莓头,脐膨出,食道闭锁,胼胝体缺失、Dandy-Walker畸形、侧脑室扩张、脐动脉血流S/D升高、脐带囊肿1例、膈疝等。结论产前超声筛查对18-三体综合征胎儿的产前检出具有重要意义。

Objective To explore the sonographic appearances of fetuses with trisomy 18 syndromeand the clinical significance.MethodsThe ultrasound ifndings of 24 cases of trisomy 18 conifrmedby amniocentesis or cordocentesis were evaluated.Results 24 cases had at least 2 parts ofsonographicanomalie, fetal cardiac anomalies were the most common among all the cases, the less abnormal sonographic findings included choroid plexus cysts, short limbsmeasurement or abnormal gestures, polyhydramnios,the other abnormal sonographic findings included fetalgrowth restriction, singleumbilical artery, fetal head in the shape of strawberry, omphalocele, esophagealatresia, absence of the corpus callosum. Dandy—Walker syndrome, ventriculomegaly,abnormal systolic/diastolic ratio （S/D） of umbilical artery,umbilical cord cyst, diaphragmatichernia. ConclusionThe evaluationof prenatal ultrasound screening is effective for the prenatal diagnosis fetus with trisomy 18 conifrmed.