产前超声异常胎儿的遗传学异常和先天性宫内感染情况  

Genetic abnormalities and congenital intrauterine infection in fetuses with prenatal abnormal ultrasonic findings

作　　者：周晖登[1] 唐文庭 李东明[1] ZHOU Hui-deng;TANG Wen-ting;LI Dong-ming(Department of Laboratory Medicine,the Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region,Nanning 530003,China)

机构地区：[1]广西壮族自治区妇幼保健院检验科

出　　处：《广西医学》2019年第11期1365-1368,共4页Guangxi Medical Journal

基　　金：广西医药卫生科研课题(Z2016108,Z20180094)

摘　　要：目的探讨超声异常胎儿的遗传学异常和先天性宫内感染情况。方法回顾性分析1182例产前超声异常胎儿的产前检查资料,包括染色体核型分析、胎儿基因芯片检测、地贫基因检测、先天性宫内感染病原体IgM检测结果。分析所有病例的妊娠结局。结果共1115例行染色体核型分析,染色体异常检出率为9.51%(106/1115),其中数目异常占82.08%(87/106),主要为21-三体综合征、18-三体综合征和特纳综合征。共330例行胎儿基因芯片检测,基因异常检出率为43.03%(142/330),其中致病性基因变异及基因突变占25.35%(36/142)。共108例行地贫基因检测,重型α地贫检出率为53.70%(58/108)。共1118例行先天性宫内感染病原体IgM检测,巨细胞病毒阳性检出率为0.81%(9/1118)。有致病性遗产学因素、巨细胞病毒感染的192例孕妇中,187例终止妊娠,5例分娩,胎儿均无重大畸形;其余990例孕妇中,109例流产或引产,881例妊娠分娩(其中23例早产,4例新生儿死亡,5例先天性心脏病)。结论对产前超声异常的胎儿可存在遗传学异常和先天性宫内感染情况,其中基因异常检出率较高,因此应重视遗传学检测及先天性宫内感染诊断,以避免不良妊娠结局。Objective To explore the state of genetic abnormalities and congenital intrauterine infection in fetuses with abnormal ultrasonic findings. Methods The prenatal examination data of 1 182 fetuses with prenatal abnormal ultrasonic findings were analyzed retrospectively,including the results of chromosome karyotyping,fetal gene chip testing,thalassemia gene testing,and IgM testing in congenital intrauterine infection pathogens.The pregnancy outcome of all cases were analyzed. Results Totally 1 115 cases underwent chromosome karyotyping,with a detection rate of chromosome abnormalities of 9.51%(106/1 115),of which chromosome numerical abnormality accounted for 82.08%(87/106),mainly appeared with 21-trisomy syndrome,18-trisomy syndrome and Turner syndrome.Totally 330 cases received fetal gene chip testing,with a detection rate of genetic abnormalities of 43.03%(142/330),of which pathogenic genovariation and gene mutation accounted for 25.35%(36/142).Totally 108 cases received thalassemia gene testing,with a detection rate of α-thalassemia major of 53.70%(58/108). A total of 1 118 cases accepted IgM testing in congenital intrauterine infection pathogens,with a detection rate of cytomegalovirus-positive of 0.81%(9/1 118). Out of 192 pregnant women with pathogenic genetic factors or cytomegalovirus infection,there were 187 cases of termination of pregnancy and 5 childbirth cases,no children suffered from major malformation;among the remaining 990 pregnant women,109 cases experienced abortion or induced labor,and 881 cases of pregnancy delivery included 23 preterm cases,4 cases of neonatal death and 5 cases of congenital heart disease. Conclusion Fetuses with abnormal prenatal ultrasonic findings may present genetic abnormalities and congenital intrauterine infection, with a relatively high detection rate of gene abnormality, thereby,more attention should be paid to genetic testing and congenital intrauterine infection diagnosis for avoiding adverse pregnancy outcome.

关 键 词：超声异常 胎儿 产前诊断 遗传学分析 先天性宫内感染 

分 类 号：R714[医药卫生—妇产科学]