双胎妊娠中结构异常胎儿染色体核型异常的临床特征  

Clinical features of abnormal chromosome karyotypes in twin pregnancies complicated with structural abnormalities

作　　者：钟世林[1] 方群[1] 陈宝江[1] 韩振艳[1] 罗艳敏[1] 陈建生[1] 谢英俊[1] 

机构地区：[1]中山大学附属第一医院妇产科胎儿医学中心,广州510080

出　　处：《中华妇产科杂志》2011年第9期649-654,共6页Chinese Journal of Obstetrics and Gynecology

基　　金：广东省科技计划项目（2007B080701019）

摘　　要：目的探讨双胎妊娠中结构异常胎儿的染色体核型异常的临床特征。方法2000年1月—2010年9月，中山大学附属第一医院就诊的双胎妊娠孕妇181例（共362个胎儿），对其中介入性产前诊断的308个胎儿按不同因素分组如下。（1）按孕妇年龄分组：≥35岁孕妇（105个胎儿）为高龄孕妇组；〈35岁孕妇（203个胎儿）为适龄孕妇组。（2）按受孕方式分组：辅助生育孕妇（81个胎儿）为辅助生育组，自然受孕（227个胎儿）为自然受孕组。（3）按绒毛膜性质分组：单绒毛膜双胎（MCT，123个胎儿）为MCT组，双绒毛膜双胎（DCT，185个胎儿）为DCT组。（4）按结构异常分组：205个结构异常胎儿为异常胎儿组，103个正常胎儿为正常胎儿组。对362个胎儿进行超声检查并对其中的308个双胎胎儿行染色体核型分析。结果（1）胎儿染色体核型分析结果：181例双胎孕妇中检出胎儿核型异常23例（12．7％，23／181），核型异常的23例双胎孕妇中，20例检查了两个胎儿的核型。308个胎儿中检出异常核型的胎儿26个（8．4％，26／308），以非整倍体最多见，占异常核型的53．8％（14／26）。205个异常胎儿中21个有染色体核型异常（10．2％，21／205）；103个正常胎儿中5个有染色体异常（4．9％，5／103），两者比较，差异无统计学意义（P〉0．05）。（2）MCT组和DCT组胎儿染色体核型异常发生率比较：MCT组123个胎儿中7个有染色体异常，发生率为5．7％（7／123）；DCT组185个胎儿中19个有染色体异常，发生率为10．3％（19／185），两组胎儿的染色体异常发生率比较，差异无统计学意义（P〉0．05）。在染色体异常类别中，DCT组有14个胎儿为非整倍体异常，非整倍体率为7．6％（14／185），而MCT组无一例发生，两组比较，差异有统计学意义（P〈0．05）。DCT组中，两例双胎中因1胎死亡仅检查有结�Objective To investigate the clinical features of the abnormal chromosome karyotypes in twin pregnancies complicated with fetal malformations. Methods Totally 181 twin pregnancies （362 fetuses） in which one or two fetuses had abnormalities diagnosed by ultrasound were referred to the First Affiliated Hospital of Sun Yat-Sen University from January, 2000 to September, 2010. They were divided into different groups according to （1） maternal age： the cases with maternal age ≥35 were divided into advanced pregnancy group （105 fetuses）, and those with maternal age 〈 35 were divided into young pregnancy group （203 fetuses）; （2） conceived method： those conceived by assisted reproductive technology were divided into assisted reproductive group （81 fetuses）, and the natural conception pregnancies were divided into natural conception group （227 fetuses） ; （3） chorionicity ： the monochorionic twin （MCT） pregnancies were divided into MCT group（ 123 fetuses）, and the dichorionic twin （DCT） pregnancies were divided into DCT group（ 185 fetuses）; （4） structural abnormalities： 205 fetuses with structural abnormalities were divided into the abnormal fetal group, and 103 fetuses without structural abnormalities were divided into the normal fetal group. All fetuses were examined by the ultrasound and chromosomes were examined in 308 fetuses. Results （ 1 ） The karyotype of fetuses： among 181 twin pregnancies, 23 cases had chromosomal abnormalities in 1 or 2 fetuses （ 12.7% ,23/181 ）, and chromosomes were examined in both fetuses in 20 of 23 cases. Twenty-six of 308 fetuses were found with abnormal chromosomes （ 8.4% , 26/308 ） , and the aneuploid was the most common type of abnormal karyotypes （53.8%, 14/26）. Twenty-one of 205 fetuses with malformations were found with abnormal karyotypes （10. 2% ,21/205 ）. （2） Seven of 123 fetuses in MCT group were with abnormal karyotypes （5.7%, 7/123）, and 19 of 185 fetuses in DCT group were with abnormal

关 键 词：双生 先天畸形 染色体畸变 非整倍性 产前诊断 核型分析 

分 类 号：R714.5[医药卫生—妇产科学]