胎儿畸形与染色体异常的关系  

Association of chromosomal abnormalities and fetal multiple malformations using ultrasonic guided cordocentesis

作　　者：吴怡[1] 王彦林[1] 韩旭[1] 胡雯婧[1] 赵欣荣[1] 沈颖华[1] 高佳琪[1] 赵慧佳[1] 乔琳[1] 

机构地区：[1]作者单位:上海交通大学医学院附属国际和平妇幼保健院产前诊断中心,上海200030

出　　处：《中国实用妇科与产科杂志》2013年第10期808-812,共5页Chinese Journal of Practical Gynecology and Obstetrics

摘　　要：目的探讨胎儿畸形的发病原因及其与染色体异常的关系。方法 2009年1月至2012年8月在上海交通大学医学院附属国际和平妇幼保健院对345例高危孕妇的胎儿进行研究,根据超声检测出多发畸形与否,分为多发畸形组(A组=49例)、单发畸形组(B组=113例)和非畸形组(C组=183例),在超声引导下行脐静脉穿刺取血,检测胎儿染色体核型。收集相关临床资料,分析畸形发现的孕周,畸形数目,畸形类别,染色体异常率及染色体异常与畸形的关系。结果 3组胎儿比较,多发畸形组染色体异常率(38.78%)明显高于单发畸形组(6.19%)和非畸形组(3.83%),差别有明显统计学意义。超声发现多发畸形数目越多,染色体异常率越大。结论多发畸形胎儿染色体异常率明显增高,畸形数目越多,胎儿染色体异常概率越大。染色体核型异常可能为胎儿多发畸形的重要病因之一。Objective To investigate the multiple characteristics of fetal malformation in prenatal diagnosis and its rela- tionship with chromosomal abnormalities. Methods A total of 345 cases referred to International Peace Maternal and In- fant Health Hospital were divided into multiple malformation group （group A, n = 49）, single malformations （group B, n = 113） , and non-malformation group（ group C, n = 183 ） according to ultrasound detected multiple malformataions or not from January 2009 to August 2012. Collecting clinical data：the discovery of fetal malformations time, the number of de- formities,the abmormality types and rates of chromosome abnormalities and outcomes of karyotypes associated malforma- tions. Results Comparing the results of two groups, the fetal chromosomal abnormality rate （ multiple malformations group 38. 78% , control group 3.83% ） was significantly different. The more the number of fetal malformations found by ultra- sound, the greater the risk of fetal chromosomal abnormality. Conclusion Multiple malformations showed higher rate of fetal chromosome abnormalities, especially accompanied by single umbilical artery.

关 键 词：胎儿畸形 染色体异常 脐静脉穿刺 

分 类 号：R714.53[医药卫生—妇产科学]