羊水过多与染色体拷贝数变异的相关性分析  

Correlation Analysis between Polyhydramnios and Chromosome Copy Number Variation

作　　者：梁雪梅[1] 冯穗华[1] 杨远强 潘焯仪 梁齐合[1] LIANG Xuemei;FENG Suihua;YANG Yuanqiang;PAN Zhuoyi;LIANG Qihe(Department of Obstetrics,Jiangmen Central Hospital of Guangdong Province,Jiangmen,Guangdong Province,529000 China)

机构地区：[1]广东省江门市中心医院产科,广东江门529000

出　　处：《系统医学》2021年第24期152-154,158,共4页Systems Medicine

基　　金：江门市医疗卫生领域科技计划项目(江科【2018】123号2018A107)。

摘　　要：目的探讨羊水过多与染色体拷贝数变异的关系。方法选择2017年7月-2020年12月149例羊水过多孕妇(排除糖尿病),孕期抽取羊水或脐血,行胎儿染色体核型分析及染色体微阵列分析(chromosomal microarray analysis, CMA)。结果在89例无合并结构异常的羊水过多患者中,发现致病性染色体拷贝数变异(copy number variation,CNV)2例,核型异常3例。在60例合并胎儿结构异常的羊水过多患者中,发现致病性染色体拷贝数变异6例,染色体异常1例,单基因异常3例,差异有统计学意义(χ^(2)=6.761,P<0.05)。合并结构异常组致病性CNV检出率明显高于无合并结构异常组。结论羊水过多与胎儿染色体拷贝数变异关系密切,对羊水过多的孕妇,尤其是羊水过多合并胎儿结构异常的,行胎儿染色体微阵列分析有助于检出染色体异常胎儿,减少缺陷患儿的出生。Objective To investigate the relationship between polyhydramnios and chromosome copy number variation.Methods From July 2017 to December 2020, 149 pregnant women with polyhydramnios(excluding diabetes) were selected. Amniotic fluid or cord blood was collected during pregnancy for fetal chromosomal karyotype analysis and chromosomal microarray analysis(CMA). Results Among 89 patients with polyhydramnios without structural abnormalities, 2 cases of pathogenic chromosome copy number variation(CNV) and 3 cases of abnormal karyotype were found. Among 60 patients with polyhydramnios with abnormal fetal structure, 6 cases of pathogenic chromosome copy number variation, 1 case of chromosomal abnormality, and 3 cases of single gene abnormality were found, the difference was statistically significant(χ^(2)=6.761, P <0.05). The detection rate of pathogenic CNV in the group with structural abnormality was significantly higher than that in the group without structural abnormality. Conclusion Polyhydramnios is closely related to the chromosome copy number variation of the fetus, and it affects pregnant women with polyhydramnios, especially for those with polyhydramnios and abnormal fetal structure, fetal chromosome microarray analysis can help detect fetuses with chromosomal abnormalities and reduce the birth of children with defects.

关 键 词：羊水过多 染色体微阵列分析 拷贝数变异 微缺失 微重复 

分 类 号：R714[医药卫生—妇产科学]