摘要
肾缺如是一种罕见的先天性出生缺陷,单肾缺如发病率约为1‰,双肾缺如发病率为0.1‰~0.3‰,遗传是其主要致病因素,但其发病机制尚不明确。临床上,大多数肾缺如胎儿并不具有典型的体征和症状,同时也缺乏高特异性的诊断指标。目前,肾缺如的胎儿往往是孕妇在孕中晚期产检时,通过产前B超检查被发现,少数孕妇会选择进一步完善MRI进行确诊。因此,临床实践中肾缺如的产前诊断具有明显的局限性。近年来,随着高通量测序技术的发展,拷贝数变异测序和全外显子测序等技术逐渐被广泛运用于妇产与遗传学科领域。高通量测序技术用于胎儿产前诊断,具备母胎安全性高、准确性高、操作简便等优势,不仅为肾缺如的产前诊断方式提供了新的选择,也为探索其遗传病因及相关机制提供了科学依据。本文将就正常胚胎肾脏发育以及产前B超、MRI、拷贝数变异测序和全外显子测序等相关产前诊断技术在肾缺如中的应用进行综述。
Renal agenesis(RA)is a rare congenital birth defect,which the incidence of single kidney deficiency is about 1‰and that of double kidney deficiency is about 0.1‰~0.3‰.Heredity is the main pathogenic factor,but its pathogenesis is still unclear.Clinically,most RA fetuses do not have typical signs and symptoms,and also lack highly specific diagnostic indicators.At present,the fetus of RA is often found by prenatal ultrasound examination in the second and third trimesters of pregnancy,and a few pregnant women will choose to further improve MRI for diagnosis.Therefore,prenatal diagnosis of RA has obvious limitations in clinical practice.In recent years,with the development of high-throughput sequencing technology,CNV-seq and WES have gradually been widely used in the field of Obstetrics and gynecology.High-throughput sequencing technology for prenatal diagnosis of fetus has the advantages of high maternal-fetal safety,high accuracy and easy operation,which not only provides a new choice for prenatal diagnosis of RA,but also provides a scientific basis for exploring its genetic causes and related mechanisms.This article reviews the normal embryonic kidney development and the application of prenatal diagnostic techniques such as ultrasound,MRI,CNV-seq and WES in RA.
作者
钟强
钱雯
张競之
林晓静
潘卫
周遵伦
ZHONG Qiang;QIAN Wen;ZHANG Jingzhi;LIN Xiaojing;PAN Wei;ZHOU Zunlun(School of Clinical Medicine,Guizhou Medical University,Guiyang 550000,China;Guizhou Prenatal Diagnosis Center,Affiliated Hospital of Guizhou Medical University,Guiyang 550000,China;School of Public Health,Guizhou Medical University,Guiyang 550000,China;Department ofGynecology and Obstetrics,Affiliated Hospital of Guizhou Medical University,Guiyang 550000,China)
出处
《分子影像学杂志》
2020年第4期643-646,共4页
Journal of Molecular Imaging
基金
贵州省科技支撑计划资助项目(黔科合同支撑[2017]2970)。
