产前诊断18三体综合征及其相关高危因素分析  

Analysis of the relationship between prenatal diagnosis of fetal trisomy 18 and the clinical risk factors

作　　者：楚伟[1] 王方娜[1] 高健[1] 李亚丽[1] 余小平[1] 郭文潮[1] CHU Wei;WANG Fang-na;GAO Jian;LI Ya-li;YU Xiao-ping;GUO Wen-chao(Department of Reproductive Genetic,Hebei People＇s Hospital,Shijiazhuang,050051,China)

机构地区：[1]河北省人民医院生殖遗传科,石家庄050051

出　　处：《中国优生与遗传杂志》2018年第7期49-51,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨18三体综合征产前诊断及其相关高危因素。方法 2014年6月至2017年6月我院产前诊断确诊胎儿染色体核型为18三体的共计52例,分析其产前诊断指征。结果确诊为18三体的52例中产前诊断指征中有超声软指标阳性或超声异常的51例,占98.08%;母血清生化指标产前筛查18三体高危22例,占42.31%;无创胎儿DNA筛查18三体高危12例,占23.08%;高龄因素10例,占19.23%。因单一指征行产前诊断者15例,占28.85%,其中超声软指标阳性或超声异常14例,无创DNA筛查高风险1例。因2个或2个以上指征者37例,占71.15%。超声软指标阳性或超声异常者中出现频率由高到低主要为脉络丛囊肿、心脏发育异常、单脐动脉、颈后皮肤皱褶增厚、肢体发育异常等。结论孕期超声检查结合血清学筛查等多种筛查方式,及早发现可疑18三体胎儿,行进一步产前诊断以避免染色体异常胎儿的出生。Objective：To explore the relationship between prenatal diagnosis of fetal trisomy 18 and the clinical risk factors. Methods：The clinical data of 52 cases confirmed fetal trisomy 18 by prenatal diagnosis during Jun 2014 to Jun 2017 in Hebei General Hospital were selected. The clinical risk factors of all cases were analyzed. Results：The clinical risk factors of all cases included positive ultrasound markers or ultrasound abnormalities（51 cases,98.08%）,high-risk of Edward syndrome in serum biochemical indicators screening（22 cases,42.31%）,high-risk in noninvasive DNA prenatal detection（12 cases,23.08%）,advanced maternal age（10 cases,19.23%）. Cases of only one risk factor were 15（28.85%）,including positive ultrasound markers or ultrasound abnormalities（14 cases）,high-risk in noninvasive DNA prenatal detection（1 cases）. Cases of two or more than two kinds of high-risk merger factors were 37（71.15%）. The frequency sequence of positive ultrasound markers or ultrasound abnormalities is choroid plexus cysts,Cardiac dysplasia,single umbilical artery,thickening of nuchal fold and dysmelia et al. Conclusion：Prenatal ultrasonography combined with serological screening and other screening methods,should be used to detect suspicious trisomy 18 early,and further prenatal diagnosis should be carried out in order to avoid the birth of chromosomal abnormalities.

关 键 词：产前诊断 超声软指标 18三体综合征 脉络丛囊肿 

分 类 号：R714.55[医药卫生—妇产科学]