胎儿宫内生长受限的遗传学病因和产前诊断研究进展  

The prenatal diagnosis and genetic background of fetal growth restriction

作　　者：陈杨萍 黄海龙[2] CHEN Yangping;HUANG Hailong(Wenzhou Central Hospital,Department of Obstetrics&Gynecology,Wenzhou 325000,China;Medical Genetic Diagnosis and Therapy Center of Fujian Maternity and Child Health Hospital,College of Clinical Medicine for Obstetrics&Gynecology and Pediatrics,Fujian Medical University,Fuzhou 350001,China)

机构地区：[1]温州市中心医院妇产科,浙江温州325000 [2]福建医科大学妇儿临床医学院福建省妇幼保健院医学遗传诊疗中心,福建福州350001

出　　处：《温州医科大学学报》2024年第8期672-677,共6页Journal of Wenzhou Medical University

基　　金：温州市基础性公益科研项目(Y20220413)。

摘　　要：胎儿生长受限(FGR)是围产期管理最艰巨的挑战之一,不仅会导致孕晚期胎死宫内,而且可以造成出生后的成人代谢综合征,如代谢性疾病、糖尿病及高血压等。宫内无明显有效的治疗手段。其病因复杂,其中胎儿遗传学病因是重要的原因之一,在产前明确其遗传学病因对判断FGR的预后至关重要。染色体微阵列分析在染色体核型分析的基础上可额外检测出大约10%的拷贝数变异,但仍有一部分原因不明,应用全外显子组测序能发现额外的单基因病。随着全外显子组测序技术的成熟和成本的下降,有望成为FGR的一线产前检测手段。Fetal growth restriction(FGR)is one of the most formidable challenges in prenatal period,which could cause not only fetal death in the third trimester in utero,but also adult metabolic syndrome such as metabolic diseases,diabetes and hypertension.There is no obviously effective treatment in utero.Its etiology is complex,with fetal genetics as one of the important reasons.Prenatal identification of the genetic etiology of FGR is crucial to the prognosis of FGR.Chromosome microarray analysis can detect about an extra 10%of copy number variation in addition to chromosome karyotype analysis,but there are many reasons unknown yet.Postnatal application of whole exome sequencing can detect additional monogenic diseases.With the development of whole exome sequencing technology followed with reduced cost,it is expected to become the first-tier prenatal detection method for FGR.

关 键 词：胎儿宫内生长受限 遗传学病因 产前诊断 全外显子组测序 

分 类 号：R714.7[医药卫生—妇产科学]