早发型胎儿生长受限的产前咨询策略探讨  

Discussion on Prenatal Counseling Strategy for Early Onset Fetal Growth Restriction

作　　者：周泽旋 方美仙 位乔 王翠兰 ZHOU Zexuan;FANG Meixian;WEI Qiao;WANG Cuilan(Department of Obstetrics and Gynecology,Nanping First Hospital Affiliated to Fujian Medical University,Nanping 353000,China)

机构地区：[1]福建医科大学附属南平第一医院妇产科,福建南平353000

出　　处：《中国医药指南》2023年第19期78-81,共4页Guide of China Medicine

基　　金：福建省自然科学基金(面上项目)(2019J01612)。

摘　　要：目的探讨早发型胎儿生长受限(FGR)的产前诊断及遗传咨询策略。方法收集2019年1月至2021年12月在福建医科大学附属南平第一医院产前诊断中心因早发型FGR进行介入性产前诊断(包括染色体核型分析和SNP-array检测)的患者75例,对胎儿羊水样本进行芯片检测基因组DNA拷贝数变异(CNV),并应用ChAS软件和相关生物信息学数据库对结果进行判断。结果75例早发型FGR孕妇的羊水检测结果中,染色体核型检出异常5例,检出率为6.67%(5/75),其中3例染色体非整倍体和2例染色体结构异常;SNP-array检测检出11例基因组DNA拷贝数变异(CNV),检出率为14.67%(11/75),其中7例致病性变异,1例疑似致病性变异,3例为临床意义不明变异。其中单纯性FGR组CNVs检出率为7.14%(3/42),非单纯性FGR组CNVs检出率为24.24%(8/33),两组比较差异无统计学意义(χ2=1.074,P=0.3)。结论染色体异常是导致胎儿早发型FGR的重要原因之一,FGR胎儿行SNP-array检测有助于发现染色体核型分析无法检出的染色体微缺失/微重复,可提高其遗传病因的诊断价值。Objective To explore the prenatal diagnosis and genetic counseling strategy of early-onset fetal growth restriction.Methods A retrospective analysis was performed on 75 pregnant women were enrolled in the Prenatal Diagnostic Center of Nanping First Hospital Affiliated to Fujian Medical University due to early onset fetal growth restriction from January 2019 to December 2021.Genomic DNA copy number variation(CNV)was detected by micro array in fetal amniotic fluid,and ChAS software and related bioinformatics data base were used for judge.Results In the amniotic fluid test results of 75 pregnant women with early-onset FGR,chromosome karyotype abnormalities were detected in 5 cases,the detection rate was 6.67%(5/75).,including 3 cases of chromosome aneuploidy and 2 cases of chromosome structure abnormality;11 cases of genomic DNA copy number variation(CNV)were detected,the detection rate was 14.67%(11/75),including 7 cases of pathogenic variation,1 case of suspected pathogenic variation and 3 cases of unknown clinical significance.Conclusions Chromosome abnormality is one of the important reasons for early-onset FGR.In clinical practice,the detection of SNP-array in fetuses with fetal growth restriction can help to find chromosomal submicroscopic abnormalities that cannot be detected by karyotype analysis and improve the diagnosis of genetic causes of fetal growth restriction.

关 键 词：胎儿生长受限 产前诊断 染色体异常 单核苷酸多态性微阵列芯片 

分 类 号：R714.53[医药卫生—妇产科学]