2017至2023年间皖南地区2725例羊水细胞培养染色体核型结果及临床意义分析  

Analysis of karyotype results and clinical significance of amniotic fluid of 2725 cases in southern Anhui from 2017 to 2023

作　　者：王玉萍 付夏 宁园园 李琴 陈青 武其文 WANG Yuping;FU Xia;NING Yuanyuan;LI Qin;CHEN Qing;WU Qiwen(Department of Clinical Laboratory,The First Affiliated Hospital of Wannan Medical College,Wuhu 241001,China;Department of Prenatal Diagnosis Center,The First Affiliated Hospital of Wannan Medical College,Wuhu 241001,China;Department of Nuclear Medicine,The First Affiliated Hospital of Wannan Medical College,Wuhu 241001,China)

机构地区：[1]皖南医学院第一附属医院检验科,安徽芜湖241001 [2]皖南医学院第一附属医院产前诊断中心,安徽芜湖241001 [3]皖南医学院第一附属医院核医学科,安徽芜湖241001

出　　处：《沈阳医学院学报》2025年第2期135-140,共6页Journal of Shenyang Medical College

基　　金：国家自然科学基金项目(No.81301512);安徽省教育厅高校自然科学研究重点项目(No.2024AH051936)。

摘　　要：目的:探讨皖南地区2 725例羊水细胞培养染色体核型结果及临床意义。方法:收集2017年1月至2023年12月在我院产前诊断中心就诊的2 725例中期妊娠孕妇羊水细胞培养染色体核型结果,统计分析各年异常率、总体异常率,不良妊娠史、高龄(年龄≥35岁)、血清学唐氏筛查高风险、无创产前检测(non invasive prenatal testing,NIPT)高风险、胎儿颈部透明层厚度增厚(≥2.5 mm)、B超结果异常,上述任意2项及以上异常以及其他等8组不同临床指征组间异常检出率,以及唐氏筛查高风险组内异常检出率,NIPT高风险组内异常检出率。结果:2017至2023年间异常率比较差异有统计学意义(χ^(2)=19.705,P=0.003)。2 725例羊水标本共检出异常核型233例(8.55%),以常染色体数目异常组最高,占4.41%(120/2 725),结构异常中以倒位最常见。8组不同临床指征组间异常率比较差异有统计学意义(χ^(2)=438.516,P<0.01)。唐氏筛查高风险组内3种高风险异常检出率比较差异无统计学意义(χ^(2)=0.323,P=0.851)。NIPT高风险组内异常检出率比较差异有统计学意义(χ^(2)=100.901,P<0.01)。检出多态性65例(2.38%)。结论:皖南地区近7年来染色体数目和结构异常均有一定的发生比例,各组间数据有一定差异,染色体核型分析能够检出中期妊娠胎儿染色体数目和结构异常,有效预防出生缺陷的发生,值得推广应用。Objective:To investigate the distribution and clinical significance of amniotic fluid karyotype results in 2725 cases from southern Anhui.Methods:The karyotypes of amniotic fluid from 2725 cases of second-trimester pregnant women treated in our hospital from Jan 2017 to Dec 2023 were collected.The annual abnormal detection rate and overall abnormal rate were analyzed.Meanwhile,the abnormal detection rate was compared among 8 groups of different clinical indication including adverse pregnancy history,advanced maternal age(≥35 years),high risk of Down syndrome screening,high risk of non-invasive prenatal testing(NIPT),nuchal translucency thickness(NT)≥2.5 mm,abnormal ultrasound findings,two or more concurrent positive indications,and others.The abnormal detection rate was calculated within high risk of Down syndrome screening and NIPT.Results:Significant differences in annual abnormal rates were observed from 2017 to 2023(χ^(2)=19.705,P=0.003).Among 2725 cases,233(8.55%)showed abnormal karyotypes.Among them,abnormal autosomal number was the most prevalent(4.41%,120/2725),with inversion being the most common chromosome structural abnormality.Significant differences in abnormal rates were noted among the eight clinical indication groups(χ^(2)=438.516,P<0.01).No statistical difference was found in abnormal detection rates among the three high-risk subgroups of Down syndrome screening(χ^(2)=0.323,P=0.851),while significant differences were observed within the high-risk subgroups of NIPT(χ^(2)=100.901,P<0.01).Polymorphisms were detected in 65 cases(2.38%).Conclusions:Chromosomal numerical and structural abnormalities have been detected in southern Anhui over the past seven years,with variations across subgroups.Karyotype analysis effectively detects second-trimester fetal chromosomal abnormalities,aiding in the prevention of birth defects and worthing clinical application.

关 键 词：羊水 染色体核型分析 中期妊娠 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学]