CAJ | 학술논문

目的探讨超声软指标在筛查胎儿21三体综合征中的应用价值.方法回顾性分析2001年1月至2011年12月就诊于中山大学附属第一医院的138例介入性产前诊断确诊为21三体综合征胎儿的超声检查结果,根据检出超声软指标是否伴有“结构畸形或其他异常”,分作孤立性软指标、复杂性软指标及单纯结构畸形或其他异常.分析出现超声软指标、结构畸形或其他异常与21三体综合征的关系.结果 138例21三体胎儿中,132例(95.7％,132/138)超声检查结果阳性,包括检出超声软指标、结构畸形或其他异常；其中120例(87.0％,120/138)检出软指标,检出1项软指标者38例(31.7％,38/120),≥2项软指标82例(68.3％,82/120),两者比较,差异有统计学意义(P＜0.01).复杂性软指标的出现率为50.0％(69/138),而孤立性软指标为37.0％(51/138),两者比较,差异有统计学意义(P＜0.05)；仅8.7％(12/138)为单纯结构畸形或其他异常.最常见的妊娠早期超声软指标为颈部透明层增厚(95％,19/20)和鼻骨发育异常(55％,11/20);妊娠中期超声软指标出现的频率依次为:鼻骨发育异常(41.9％,52/124),颈后皮肤皱褶增厚(25.0％,31/124),股骨及肱骨短小(24.2％,30/124),心室内强回声点(16.1％,20/124),脑室轻度扩张(15.3％,19/124).结构畸形或其他异常以心血管系统(33.1％,41/124)最常见,消化系统(26.6％,33/124)次之.结论超声软指标在筛查21三体胎儿中具有重要作用.21三体胎儿常出现多个超声软指标或软指标与结构畸形或其他异常共同出现.
목적 탐토초성연지표재사사태인21삼체종합정중적응용개치.방법 회고성분석2001년1월지2011년12월취진우중산대학부속제일의원적138례개입성산전진단학진위21삼체종합정태인적초성검사결과,근거검출초성연지표시부반유“결구기형혹기타이상”,분작고립성연지표、복잡성연지표급단순결구기형혹기타이상.분석출현초성연지표、결구기형혹기타이상여21삼체종합정적관계.결과 138례21삼체태인중,132례(95.7％,132/138)초성검사결과양성,포괄검출초성연지표、결구기형혹기타이상；기중120례(87.0％,120/138)검출연지표,검출1항연지표자38례(31.7％,38/120),≥2항연지표82례(68.3％,82/120),량자비교,차이유통계학의의(P＜0.01).복잡성연지표적출현솔위50.0％(69/138),이고립성연지표위37.0％(51/138),량자비교,차이유통계학의의(P＜0.05)；부8.7％(12/138)위단순결구기형혹기타이상.최상견적임신조기초성연지표위경부투명층증후(95％,19/20)화비골발육이상(55％,11/20);임신중기초성연지표출현적빈솔의차위:비골발육이상(41.9％,52/124),경후피부추습증후(25.0％,31/124),고골급굉골단소(24.2％,30/124),심실내강회성점(16.1％,20/124),뇌실경도확장(15.3％,19/124).결구기형혹기타이상이심혈관계통(33.1％,41/124)최상견,소화계통(26.6％,33/124)차지.결론 초성연지표재사사21삼체태인중구유중요작용.21삼체태인상출현다개초성연지표혹연지표여결구기형혹기타이상공동출현.
Objective To investigate the clinical value of ultrasound markers in screening fetal trisomy 21.Methods From Jan.2001 to Dec.2011,a retrospective study about sonographic information of 138 fetuses diagnosed as trisomy 21 was taken in the First Affiliated Hospital of Sun Yat-sen University.All fetuses were divided into 3 groups:isolated ultrasound markers,non-isolated ultrasound markers,and isolated structural malformations or other abnormalities.The relationship between trisomy 21 and ultrasound markers as well as structural anomalies or other abnormalities was analyzed.Results Sonographic anomalies were detected in 132 fetuses(95.7％,132/138),including ultrasound markers and structural malformations or other abnormalities.One hundred and twenty cases(87.0％,120/138)had ultrasound markers,38(31.7％,38/120)had one marker and 82(68.3％,82/120)had more than one marker (P ＜ 0.01).Fifty-one fetuses(37.0％,51/138)had isolated ultrasound markers and non-isolated markers were found in 69 fetuses(50.0％,69/138).Only 12 fetuses(8.7％,12/138)had isolated structural malformations or other abnormalities.In 20 fetuses on whom the first-trimester ultrasound screening were performed,all had ultrasound markers,95％(19/20)had thickened nuchal translucency and 55％ (11/20)had nasal bone hypoplasia.The most common ultrasound markers on the second-trimester screening were nasal bone hypoplasia,which accounted for 41.9％(52/124)cases,followed by thickened nuchal fold (25.0％,31/124),short fenurs and humerus(24.2％,30/124),echogenic intracardiac focus(16.1％,20/124),mild ventriculomegaly(15.3％,19/124),hyperechoic bowel(12.9％,16/124),mild renal pyelectasis(12.1％,15/124).Furthermore,thc common structural malformations or other abnormalities were as follows:cardiac defects(33.1％,41/124),digestive system(26.6％,33/124).Condusions Ultrasound markers are valuable for screening fetal trisomy 21.The fetuses of trisomy 21 usually had more than one ultrasound markers or associated with other abnormalities.Combinations of ultrasound markers with the results of serum screening and maternal age are necessary for evaluation.