151例骨骼系统异常胎儿的染色体结果分析  

Analysis of Chromosomal Results in 151 Fetus with Abnormal Skeletal System

作　　者：赵遵兰 高洪丽 肖莺 陈玲玲 ZHAO Zun-lan;GAO Hong-li;XIAO Ying(Clinical Laboratory,Linyi Central Hospital,Shandong Linyi 276400)

机构地区：[1]临沂市中心医院检验科,山东临沂T276400

出　　处：《医学检验与临床》2025年第3期43-47,共5页Medical Laboratory Science and Clinics

基　　金：山东省医药卫生科技项目,项目编号:202411000624。

摘　　要：目的:探讨遗传因素在胎儿骨骼系统异常中的作用,为遗传咨询提供依据。方法:收集2018年1月-2023年6月于我院超声检查诊断为骨骼发育异常并且行介入性产前诊断的151名孕妇的临床资料。根据是否合并其他结构异常分为ABC三组。根据鼻骨发育异常是否合并其他结构异常分为孤立组和非孤立组。结果:151例骨骼发育异常胎儿中,C组染色体异常检出率(32.65%)高于A组(5.74%),差异有统计学意义(P<0.05)。A组和B组间、B组和C组间差异无统计学意义(P>0.05)。对骨骼发育异常胎儿,染色体微阵列(CMA)染色体异常检出率高于染色体核型,差异有统计学意义(P<0.05)。非孤立组染色体异常检出率高于孤立组,差异有统计学意义(P<0.05)。结论:骨骼系统畸形合并其他系统异常胎儿染色体异常风险增加,强烈建议进行介入性产前诊断。Objective:To explore the influence of genetic factors in fetal skeletal system abnormalities,and provide reference for genetic counseling.Methods:We collected 151 pregnant women's clinical and experimental data who were diagnosed with skeletal dysplasia by ultrasound examination and underwent interventional prenatal diagnosis in our hospital from January 2018 to June 2023.According to whether other system abnormalities were combined,they were divided into ABC three groups.They were divided into isolated group and non-isolated group according to whether nasal bone development was combined with other structural abnormalities.Results:Among 151 fetuses with skeletal dysplasia,the detection rate of chromosome abnormality in group C(32.65%)was higher than that in group A(5.74%),and the difference was statistically significant(P<0.05):And no significant difference were detected between group A and group B and between group B and group C(P≥0.05).For fetuses with abnormal skeletal development,the detection rate of chromosome abnormality in CMA was higher than that in chromosome karyotype,and the difference was statistically significant(P<0.05).The detection rate of chromosome abnormality in non-isolated group was higher than that in isolated group,and the diference was statistically significant(P<0.05).Conclusion:Fetuses with skeletal system and other system abnormalities have an increased risk of chromosomal abnormalities,prenatal diagnosis is strongly recommended to guide subsequent eugenic intervention.

关 键 词：骨骼系统 染色体微阵列 核型 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学]