摘要
目的 探讨超声诊断早孕期胎儿唇腭裂的价值及干扰素调节因子6(IRF6)基因多态性与胎儿唇腭裂的相关性.方法 2017年7月1日至2018年12月31日在广州市番禺区中心医院超声科对1 659例11~13+6周的胎儿行颈项透明层厚度(NT)测量,检查胎儿颜面部结构,利用下颌骨弓横切面头侧偏移法,依次扫查胎儿正中矢状切面,下颌骨弓横切面、上唇斜冠状切面、鼻后三角切面,诊断早孕期胎儿唇腭裂.采用聚合酶链反应?限制性酶切片段长度多态性(PCR?RFLP)方法检测5例唇腭裂的胎儿IRF6基因V274I位点单核苷酸多态性(SNP).结果 1 659例胎儿中4个切面均可显示率为95.0%(1 576/1 659),共发生唇腭裂20例,发病率为1.2%(20/1 659),符合率75%(15/20),漏诊率25% (5/20).PCR?RFLP结果显示,2例唇腭裂的胎儿IRF6基因V274I位点发生变异,突变频率为3.2%.结论 利用下颌骨弓横切面头侧偏移法诊断早孕期胎儿唇腭裂是简单、有效和可行的.胎儿唇腭裂IRF6基因多态性变异的关系有待进一步研究.
Objective To investigate the value of ultrasonography in the diagnosis of fetal cleft lip and palate during early pregnancy and the correlation between interferon regulatory factor 6(IRF6)gene polymorphism and fetal cleft lip and palate.Methods A total of 1659 fetuses of 11?13+6 weeks old admitted to the Department of Ultrasound,Panyu District Central Hospital between July 1,2017 and December 31,2018 were included in the study.The nuchal translucency(NT)measurement was performed,and the facial structure was examined.The mandibular arch cross?section with head lateral migration method was used to scan the fetal median sagittal section,mandibular arch cross?section,upper lip oblique coronal plane and postnasal triangle section for the diagnosis of fetal cleft lip and palate during early pregnancy.Polymerase chain reaction?restriction fragment length polymorphism(PCR?RFLP)was used to examine the single nucleotide polymorphism(SNP)of the IRF6 gene V274I loci in 5 fetuses with cleft lip and palate.Results The display rate of the four sections in 1 659 fetuses was 95.0%(1 576/1 659).There were 20 cases of cleft lip and palate,and the incidence was 1.2%(20/1 659),the coincidence rate was 75%(15/20),and the rate of missed diagnosis was 25%(5/20).PCR?RFLP results showed mutation of IRF6 gene V274I loci in 2 fetuses with cleft lip and palate,and the mutation frequency was 3.2%.Conclusion Using mandibular arch cross?section with head lateral migration method to diagnose fetal cleft lip and palate during early pregnancy is simple,effective and feasible.The relationship between fetal cleft lip and palate and the polymorphism of IRF6 gene needs further study.
作者
刘焕玲
黄星
苏小微
梁莹莹
杨鑫
邬家明
陈毓菁
Liu Huanling;Huang Xing;Su Xiaowei;Liang Yingying;Yang Xin;Wu Jiaming;Chen Yujing(Department of Ultrasound,Panyu District Central Hospital,Guangzhou,Guangdong,511400,China)
出处
《中华生物医学工程杂志》
CAS
2019年第2期220-224,共5页
Chinese Journal of Biomedical Engineering
基金
广东省科技计划项目(2017ZC0373)
