胎儿持续性左上腔静脉及其相关异常研究  

Prenatal diagnosis of persistent left superior vena cava and associated anomalies

作　　者：赖祝琴 杜柳[2] 吴宏 杨振宇 

机构地区：[1]深圳市宝安区中心医院超声科,广东深圳518102 [2]中山大学附属第一医院超声科,广东广州510080

出　　处：《影像诊断与介入放射学》2015年第2期127-133,共7页Diagnostic Imaging & Interventional Radiology

基　　金：国家自然科学基金面上项目(81071166)

摘　　要：目的：分析产前超声诊断胎儿持续性左上腔静脉与合并其他畸形及染色体异常的相关性。方法收集2011年1月～2013年12月产前超声诊断为胎儿持续性左上腔静脉的病例，根据超声检查是否合并其他心脏畸形及心外异常，分为单纯型持续性左上腔静脉和非单纯型持续性左上腔静脉（合并除外持续性左上腔静脉的其他心脏畸形及大血管变异和／或心外各系统脏器的结构畸形及超声软指标异常），分析其合并畸形的种类、与染色体异常的关系及临床结局。结果产前超声诊断并经随访证实的持续性左上腔静脉共138例，其中单纯型30例（21．7％），非单纯型108例（78．3％）。非单纯型病例中合并心内异常87例（63．0％，87／138），其中异构综合征10例（11．5％，10／138）；合并心外异常67例（45．6％，67／138），其中同时合并心内、外异常46例（33．3％，46／138）。99例胎儿行染色体核型分析或临床表型确认，其中13例（13．1％，13／99）染色体核型异常，包括18－三体征6例（46．2％，6／13）、21－三体征3例（23．1％，3／13）以及13－三体征、Turner综合征、47，XXY、46，XX，t（6；13）（q22；q23）各1例。其中单纯型1例（4．0％，1／25），染色体核型为46， XX，t（6；13）（q22；q23）；非单纯型12例（16．2％，12／74），两者合并染色体异常的发生率差异具有统计学意义（P＜0．05）。25例（83．3％，25／30）单纯型病例出生均存活至今；16例（14．8％，16／108）非单纯型病例出生，2例死亡；存活率为95．1％（39／41）。结论胎儿持续性左上腔静脉常合并其他畸形，是胎儿结构异常的重要标志，且合并其他心内外异常时染色体异常风险增高；而单纯型持续性左上腔静脉是一种血管变异，临床预后好。Objective To investigate the associated malformations , chromosomal abnormalities and clinical outcome in the fetuses with persistent left superior vena cava.（PLSVC）. Methods 138 Fetuses with prenatal diagnosis of PLSVC from January 2011 to December 2013 were categorized into isolated and non-isolated （associated with cardiac anomalies including other cardiac , great vessels malformation and heterotaxy syndrome;.extracardiac anomalies including other organ malformation and abnormal sonographic soft markers）. The associated anomalies, karyotypes and clinical outcome of the two groups were analyzed. Results Of the 138 fetuses with PLSVC,.30（21.7%） were isolated and 108（78.3%） were non-isolated. In the non-isolated cases, 87（63.0%, 87/138） cases were associated with other cardiac anomalies, including 10 （11.5%, 10/138） cases of heterotaxy syndrome; 67 （45.6%, 67/138） cases of other extracardiac anomalies and 46（33.3%, 46/138） cases of both cardiac and extracardiac anomalies. The chromosomal karyotypes and clinical phenotypes were obtained in 99 cases,13（13.1%, 13/99） cases had chromosomal abnormalities including trisomy 18（46.1%, 6/13） trisomy 21（23.1%, 3/13） and one each in trisomy 13, Turner syndrome, 47, XXY, 46, XX, t（6; 13） （q22; q23）. Among these 13 fetuses, one case （4.0%, 1/25） with 46,XX, t（6; 13） （q22; q23） was isolated, others （16.2%, 12/74） were non-isolated. The risk of chromosomal abnormalities was significantly higher in fetuses associated with other anomalies. （P〈0.05）..The birth rates in the isolated and non-isolated cases were 83.3%（25/30）.and 14.8%（16/108） respectively. Two non-isolated cases were died after birth, the survival rate was 95.1% （39/41）. Conclusion The PLSVC oftenassociated with additional anomalies, should be considered as a marker of fetal structure malformation. Fetuses of PLSVC with other defects are more highly associated with chromosomal disorders than those of isolated PLSVC..Isolated PLSVC i

关 键 词：持续性左上腔静脉 产前超声 先天畸形 染色体异常 

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