摘要
目的 通过对产前超声诊断的室间隔缺损（室缺）胎儿的临床资料进行分析,探讨胎儿不同类型室缺及合并其他畸形与染色体异常的相关性.方法 收集2008年1月至201 1年9月在中山大学附属第一医院行产前胎儿系统超声诊断的214例室缺胎儿的临床资料.根据缺损的部位分为膜周部（包括流入道型及流出道型）、肌部和混合型室缺（缺损＞5 mm累及肌部和膜部）;根据超声检查是否合并其他心脏畸形及心外异常,分为单纯室缺组、心内异常组（除外室缺的其他心脏畸形及大血管变异）、心外异常组（各系统脏器的结构畸形及超声软指标异常）及心内外异常组.对各组胎儿行染色体核型G显带分析,若产前未行染色体检查者,追踪至出生后检查其临床表型,表型正常者归为染色体核型正常,并随访其结果.结果 （1）室缺分类：膜周部室缺134例（62.6％,134/214）,其中流入道型室缺91例（42.5％,91/214）;流出道型室缺43例（20.1％,43/214）.肌部室缺35例（16.4％,35/214）.混合型室缺45例（21.0％,45/214）.（2）分组：214例室缺胎儿中,单纯室缺组46例（21.5％）;心内异常组34例（15.9％）;心外异常组87例（40.6％）;心内外异常组47例（22.0％）.各组胎儿室缺构成比分别比较,差异均有统计学意义（P＜0.01）.（3）染色体核型分析：共126例胎儿进行了染色体核型分析或临床表型确认,其中染色体核型分析105例,临床表型确认21例.126例胎儿中46例（36.5％）染色体核型异常.（4）各类型室缺胎儿的染色体异常结果：55例流入道型室缺中染色体异常28例（50.9％）,27例流出道型室缺中染色体异常9例（33.3％）,25例肌部型室缺中染色体异常2例（8.0％）,19例混合型室缺中染色体异常7例（7/19）,各类型室缺合并染色体异常率分别比较,差异均有统计学意义（P＜0.01）.（5）各组胎儿染色体异常率：单纯室缺组胎儿中29例进行了染色体核型分析,其中1例异常（3.4％）;心内异常组胎儿中14例进行了染色体核型分析,其中2例异常（2/14）;心外异常组胎儿中56例进行了染色体核型分析,其中30例异常（53.6％）;心内外异常组胎儿中27例进行了染色体核型分析,其中13例异常（48.1％）.单纯室缺组胎儿染色体异常率分别与心外异常组、心内外异常组比较,差异均有统计学意义（P＜0.01）.结论 室缺胎儿合并染色体异常的比例较高,尤其是流入道型室缺以及室缺合并其他心外异常时,高度提示合并染色体异常的可能.
Objective To evaluate the association between fetal ventricular septal defects （VSD）and chromosomal abnormalities.Methods The 214 fetuses diagnosed VSD in the First Affiliated Hospital of Sun Yat-sen University from January 2008 to September 2011 were included.The VSD were categorized into 3 types：perimembranous,muscular and mixed （the defect could not be classified because the dimensions were larger than 5 mm） type.The perimembranous defect was subdivided into inlet and outlet subtypes.Complicated with other cardiac abnormalities/extracardiac abnornalities or not,the cases were divided into isolated VSD group,VSD complicating cardiac anomalies group （other cardiac and/or great vessels malformation）,VSD complicating extracardiac anomalies group （include organ malformation and sonographic soft markers） and VSD with both cardiac and extracardiac anomalies group.G-banding chromosome analysis was advised for all cases.In cases that no karyotype was obtained,the phenotype of the newborns was examined by the pediatricians.And those appeared normal were defined as normal karyotype.Results （1） There were 134 （62.6％,134/214） perimembranous defects,including 91 （42.5％,91/214） inlet lesions and 43 （20.1％,43/214） outlet lesions.There were 35 （16.4％,35/214） muscular defects and 45 （21.0％,45/214） mixed type lesions.（2） Among the 214 VSD fetuses,46 （21.5％） were isolated VSD,34 （15.9％） were cases with other cardiac anomalies,87 （40.6％） were cases with extracardiac anomalies and 47 （22.0％） were cases with both cardiac and extracardiac anomalies.（3） The chromosomal karyotypes were obtained in 105 cases,and 21 cases were considered as normal according to the phenotype.Of all these 126 cases,46 （36.5％,46/126） had chromosomal abnormalities.（4） Inlet defects had the highest risk of chromosomal abnormalities （28/55,50.9％）,while the muscular defects had the lowest risk （2/25,8.0％）.The incidence of chromosomal abnormalities in outlet and mixed type was 33.3％ （9/27） and 7/19,respectively.The types of VSD were significantly correlated with chromosomal defects （P ＜ 0.01）.（5） The incidence of chromosomal abnormalities in the 4 groups were 3.4％ （1/29）,2/14,53.6％ （30/56） and 48.1％ （13/27）,respectively.The risk of chromosomal abnormalities in the cases complicating extracardiac or both extracardiac and cardiac anomalies was significantly higher than the isolated VSD group （P ＜ 0.01）.Conclusion Fetal VSD had a highest risk of chromosomal abnormalities,especially the inlet type and VSD with extracardiac abnormalities,and then the fetal karyotype should be recommended.
出处
《中华妇产科杂志》
CAS
CSCD
北大核心
2013年第11期805-809,共5页
Chinese Journal of Obstetrics and Gynecology
基金
国家自然科学基金面上项目（81071166）
关键词
室间隔缺损
染色体畸变
超声检查
产前
Heart septal defects, ventricular
Chromosome aberrations
Ultrasonography,prenatal
