480例妊娠中、晚期胎儿超声异常与染色体异常情况及妊娠结局研究  

Ultrasound abnormality and chromosomal abnormalities and pregnancy outcomes in 480 pregnancy fetuses

作　　者：孙澜栩[1] 张昆玉 黄燕[1] 杨燕 左馨[1] 杨楠[1] 罗静[1] SUN Lan-xu;ZHANG Kun-yu;HUANG Yan;YANG Yan;ZUO Xin;YANG Nan;LUO Jing(Department of Obstetrics,Ganmei Hospital,First People ＂s Hospital of Kunming,Kunming 650224,China;Department of Reproductive Genetics,First Affiliated Hospital,Kunming Medical University,Kunming,Yunnan 650053,China)

机构地区：[1]昆明市第一人民医院甘美医院产科,昆明650224 [2]昆明医科大学第一附属医院生殖遗传科,昆明650053

出　　处：《中国优生与遗传杂志》2018年第10期98-100,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨妊娠中、晚期胎儿超声异常与染色体异常关系及对妊娠结局的影响。方法择我院超声检查异常的妊娠中、晚期孕妇480例作为对象。了解胎儿超声结构异常与超声软指标异常情况;对胎儿进行染色体核型分析、唐筛及无创基因检测;对所有孕妇进行门诊不定期随诊,统计在我院进行介入性产前诊断及在我院引产、分娩孕妇资料,对于未在我院引产或分娩孕妇给予电话随访。结果 480例妊娠中、晚期胎儿超声异常中,379例超声软指标异常,占78.95%,101例超声结构异常,占21.04%;480例妊娠中、晚期胎儿超声异常与染色体异常中,436例单项异常,占90.83%,32例两项异常,占6.67%,12例三项及以上异常,占2.5%。单项异常、两项异常、三项及以上异常染色体异常、染色体三体、性染色体异常及倒位发生率比较均无统计学意义(P>0.05);无创基因或唐筛检查高风险率占83.33%;对所有孕产妇进行随访,89.40%胎儿引产。结论妊娠中、晚期胎儿超声结构或软指标异常者常伴有较高的染色体异常率,临床上对于单项超声异常者可行唐筛、无创基因检测;对于多项超声异常者可行脐血管穿刺染色体检查,提高患者妊娠结局。Objective：To investigate the relationship between abnormal ultrasound and chromosomal abnormalities in fetal and pregnancy outcomes during and after pregnancy. Methods：480 patients with abnormal mid-pregnancy and late pregnancy in our hospital were selected as subjects. Understanding of fetal structural abnormalities ultrasound and ultrasound soft targets anomalies;fetal karyotype analysis,Tang screen and non-invasive genetic testing;outpatient follow-up from time to time for all pregnant women,statistical interventional prenatal diagnosis in our hospital and in my The hospital induced labor and delivery of pregnant women,and the telephone was followed up for pregnant women who had not induced labor or delivery in our hospital. Results：480 cases of pregnancy,late fetal ultrasound abnormalities in 379 cases ultrasound soft abnormalities,accounting for 78.95%,101 cases ultrasound structural abnormalities,accounting for 21.04%;480 cases of pregnancy,late fetal ultrasound abnormalities and chromosomal abnormalities in 436 cases Single abnormalities accounted for 90.83%,32 abnormalities in two cases,accounting for 6.67%,12 cases of abnormalities in three or more,accounting for 2.5%.Individual exceptions,two anomalies,three or more abnormal chromosomal abnormalities,trisomy,sex chromosome abnormalities and the incidence of inversions were no statistically significant（P〉0.05）;non-invasive genetic screening or screening of high-risk Tang rate 83.33%;Follow-up of all pregnant women,89.40% of fetal labor induction. Conclusion：The third trimesters of fetal ultrasound abnormalities or soft structure is often accompanied by a higher incidence of chromosomal abnormalities,clinically feasible for a single abnormal ultrasound Tang screen,noninvasive genetic testing;for a number of possible abnormal ultrasound umbilical cord puncture chromosome Check to improve the patient＇s pregnancy outcome.

关 键 词：超声异常 染色体异常 无创基因 脐血管穿刺 

分 类 号：R445.12[医药卫生—影像医学与核医学]