摘要
胎儿骨骼发育异常(skeletal dysplasia,SD)是胎儿期最常见的出生缺陷之一,绝大多数与遗传性疾病相关,骨骼系统病种较多,具有遗传异质性和表型异质性。导致骨骼发育异常的遗传因素可以分为:染色体异常、染色体微缺失微重复综合征和致病基因相关的遗传性骨病。基因测序技术的快速发展为胎儿骨骼发育异常提供了新的研究策略,随着各种遗传性骨病的相应基因型-超声影像及临床表型信息的逐步完善,提高了骨骼发育异常的胎儿产前诊断的效率和准确率。让建立更加高效的、标准化的诊断流程成为可能,本文就胎儿骨骼发育异常的遗传性因素研究进展进行综述。
Fetal skeletal dysplasia（SD）is one of the most common birth defects. Most of them are hereditary diseases. The genetic factors that lead to SD can be divided into chromosomal abnormalities,chromosomal micro-deletions and microduplication syndrome,and genetic skeletal disorders related to pathogenic genes. The rapid development of gene sequencing technology provides a new research strategy of fetal skeletal dysplasia. Perhaps we can create a more efficient and standardized diagnostic process by strengthening the genotype-phenotype correlation of various genetic skeletal disorders through the improvements in ultrasound image and clinical phenotype information,and therefore improve the efficiency and accuracy of fetal skeletal dysplasia prenatal diagnosis. Here we review the advancements in research on genetic factors of fetal skeletal dysplasia.
作者
祝建疆
戚红
李伟
蔡莉蓉
闻小慧
周秀云
ZHU Jian-jiang;QI Hong;LI Wei;CAI Li-rong;WEN Xiao-hui;ZHOU Xiu-yun(Department of Genetic Laboratory,Haidian Maternal and Child Health Care Hospital,Beijing 100080,China;BGIGenomics,BGI-Shenzhen,Shenzhen518083,China)
出处
《中国优生与遗传杂志》
2018年第10期123-126,128,共5页
Chinese Journal of Birth Health & Heredity
关键词
胎儿
骨骼发育异常
遗传因素
产前诊断
Fetal
skeletal dysplasia
genetic factor
prenatal diagnosis
作者简介
通讯作者：戚红
