CAJ | 학술논문

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20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20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15例(75％)，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。
목적：탐토18-삼체종합증태인적산전초성표현급초성검사림상개치。방법：회고성분석20례경양막강천자혹제혈천자염색체핵형검사학진위18-삼체종합정태인적초성표현。결과：학진적20례18-삼체종합정태인균유량개급이상이상초성표현，상견초성표현주요위심장기형15례(75％)，기차시맥락총낭종，사지골격혹자세이상，양수다，환가견도태인생장수한，단제동맥，초매두，제팽출，식도폐쇄，변지체결실、Dandy-Walker기형、측뇌실확장、제동맥혈류S/D승고、제대낭종1례、격산등。결론：산전초성사사대18-삼체종합정태인적산전검출구유중요의의。
Objective:To investigate the sonographic appearances of fetuses with trisomy 18 syndrome and the clinical significance. Methods: The ultrasound findings of 20 cases of trisomy 18 confirmed by amniocentesis or cordocentesis were evaluated.Results: All of the 20 cases had at least 2 parts of sonographicanomalies. Fetal cardiac anomalies were the most common ifndings which accounted for 75%among all the cases. The less abnormal sonographic findings included choroid plexus cysts, short limbs measurement or abnormal gestures, polyhydramnios, The other abnormal sonographic ifndings included fetal growth restriction, singleumbilical artery, fetal head in the shape of strawberry, omphalocele, esophageal atresia,absence of the corpus callosum,Dandy—Walker syndrome,ventriculomegaly,abnormal systolic/diastolic ratio(S/D)of umbilical artery,umbilical cord cyst,diaphragmatichernia.Conclusion:The evaluation of prenatal ultrasound screening is effective for the Prenatal diagnosis fetus with trisomy 18.