超声联合高通量测序在检测胎儿短肢畸形中的研究  

Study on ultrasound combined with high throughput sequencing in the detection of fetal short limb malformations

作　　者：乞艳华[1] 麻妙艳 刘娜[1] 周琦[1] 雷小莹[1] 贾建坤 邬晋芳[3] QI Yanhua;MA Miaoyan;LIU Na;ZHOU Qi;LEI Xiaoying;JIAJiankun;WU Jinfang(Department of Ultrasound,Second Affiliated Hospital,Xi’ an Jiaotong University,Xi’ an 710004,China;Beijing Berry Genomics Co.,Ltd;Department of Obstetrics and Gynecology,Second Affiliated Hospital,Xi’ an Jiaotong University)

机构地区：[1]西安交通大学第二附属医院超声科,西安710004 [2]北京贝瑞和康生物技术有限公司 [3]西安交通大学第二附属医院妇产科

出　　处：《山西医科大学学报》2018年第6期704-708,共5页Journal of Shanxi Medical University

基　　金：陕西省社发攻关项目(2016SF014)

摘　　要：目的探讨超声联合高通量测序在胎儿短肢畸形中的应用价值。方法 2014-01~2017-12经超声检查发现胎儿肢体短小者共10例,在孕妇知情同意下抽取外周血,进行全外显子高通量测序,对引产胎儿进行X线检查及基因检测,对分娩的新生儿进行跟踪随访。结果 10例胎儿中,病例编号1-5未检测出明显致病性突变,产后跟踪随访胎儿正常。病例编号6检测出COL1A1 C.932突变(G-T),病例编号7检测出COL1A2 C.2962突变(G-T),病例编号8-10检测出7R248c突变(C-T),5例均为新发突变,其父母该位点均未见突变,引产后进一步证实。结论超声联合高通量测序可在产前明确胎儿短肢畸形的病因,为患病家庭提供准确的遗传咨询及再次妊娠提供指导。Objective To explore the value of ultrasound combined with high throughput sequencing in the diagnosis of fetal short limb malformation. Methods Ten fetuses with short limbs were detected by ultrasound from January 2014 to December 2017. Maternal peripheral blood was extracted and high throughput sequencing was carried out after the informed consent of pregnant women. X-rays and gene tests were performed on the fetus of induced labor. The newborn was followed up for six months. Results No significant mutation was detected in case 1-5,and the results of postpartum were normal after follow up. There were mutation of COL1 A1,c. 932 G T in case 6,mutation of COL1 A2,c. 2962 G T in case 7,and mutation of FGFR3,c. 742 C T in case 8-10. All the 5 cases（ case 6-10） were newly mutated and their parents had no mutation at this locus,which was further confirmed by X-ray and gene detection after induced labor. Conclusion Ultrasound combined with high throughput sequencing can be used to determine the cause of fetal short limb malformation in prenatal period,which provide accurate genetic counseling and guidance for next pregnancy.

关 键 词：超声检查 高通量测序 胎儿短肢畸形 

分 类 号：R726.2[医药卫生—儿科]