超声异常胎儿产前遗传学分析  

Prenatal Genetic Analysis of Abnormal Ultrasound Fetus

作　　者：师园园 刘学军[1] 刘慈[1] 马良[1] 刘芸兰 SHI Yuan-yuan;LIU Xue-jun;LIU Ci;MA Liang;LIU Yun-lan(Genetic Room,Department of Obstetrics and Gynecology,the Second Hospital of Hebei Medical University,Shijiazhuang 050000,Hebei,China)

机构地区：[1]河北医科大学第二医院妇产超声诊疗科遗传室,河北石家庄050000

出　　处：《医学信息》2020年第11期161-162,165,共3页Journal of Medical Information

摘　　要：目的通过515例超声示胎儿异常产前遗传学分析,探讨妊娠期胎儿不同种类的结构畸形及其与染色体异常的关系,为临床提供更有价值的遗传咨询。方法收集2017年1月~2019年4月因超声提示胎儿异常于我院行胎儿染色体产前诊断的515例孕妇的临床资料,均进行染色体核型分析和染色体拷贝数变异检测,统计各类胎儿异常情况及其在超声异常项目中的核型异常数、拷贝数变异数、染色体异常率。结果515例胎儿超声软指标异常362例,占70.29%,其中鼻骨缺失或发育不良染色体异常率最高,占20.93%。胎儿超声结构异常153例,占29.71%,其中胎儿多发畸形染色体异常率最高,占50.00%,其次为心脏畸形,异常率为18.82%。胎儿染色体核型异常42例,检出率8.16%,其中数目异常32例,结构异常10例。染色体拷贝数变异57例,检出率11.07%。结论妊娠期超声提示胎儿各类畸形及胎儿染色体异常率存在较大差异,分布无规律,在孕妇咨询胎儿染色体异常风险率时,需要综合考虑超声所示胎儿结构畸形及软指标的种类和数量,以提供更有价值的遗传咨询。Objective To study the abnormal prenatal genetic analysis of fetal abnormalities in 515 cases to explore the different types of structural abnormalities of fetuses during pregnancy and their relationship with chromosomal abnormalities,so as to provide more valuable genetic counseling for clinic.Methods Collecting clinical data of 515 pregnant women who underwent prenatal diagnosis of fetal chromosomes in our hospital due to ultrasound suggesting fetal abnormalities from January 2017 to April 2019,all got the chromosome karyotype analysis and chromosome copy number variation detection,statistics of various fetal abnormalities and their karyotype abnormalities,copy number variations,and chromosome abnormality rates in ultrasound abnormalities.Results Of the 515 cases of fetal ultrasound soft index abnormalities,362 cases accounted for 70.29%,of which nasal bone loss or dysplasia had the highest rate of chromosome abnormalities,accounting for 20.93%.There were 153 fetal ultrasound structural abnormalities,accounting for 29.71%,of which the fetal multiple malformations had the highest chromosomal abnormality rate,accounting for 50.00%,followed by cardiac malformation,with an abnormal rate of 18.82%.There were 42 cases of fetal karyotype abnormalities,with a detection rate of 8.16%,including 32 cases with abnormalities and 10 cases with abnormal structures.There were 57 cases with chromosomal copy number variation,and the detection rate was 11.07%.Conclusion Ultrasound during pregnancy indicates that there are large differences in the rate of fetal malformations and fetal chromosomal abnormalities,and the distribution is irregular.When pregnant women consult the risk rate of fetal chromosomal abnormalities,it is necessary to comprehensively consider the type and number of fetal structural abnormalities and soft indicators shown by ultrasound to provide more valuable genetic counseling.

关 键 词：超声 胎儿异常 染色体 拷贝数变异 

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