沈阳医学院学报2025，Vol.27Issue(2)：135-140,6.DOI:10.16753/j.cnki.1008-2344.2025.02.005
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 2 725 cases in southern Anhui from 2017 to 2023
摘要
Abstract
Objective:To investigate the distribution and clinical significance of amniotic fluid karyotype results in 2 725 cases from southern Anhui.Methods:The karyotypes of amniotic fluid from 2 725 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(χ2=19.705,P=0.003).Among 2 725 cases,233(8.55%)showed abnormal karyotypes.Among them,abnormal autosomal number was the most prevalent(4.41%,120/2 725),with inversion being the most common chromosome structural abnormality.Significant differences in abnormal rates were noted among the eight clinical indication groups(χ2=438.516,P＜0.01).No statistical difference was found in abnormal detection rates among the three high-risk subgroups of Down syndrome screening(χ2=0.323,P=0.851),while significant differences were observed within the high-risk subgroups of NIPT(χ2=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Key words
amniotic fluid/chromosome karytype analysis/second-trimester pregnancy/prenatal diagnosis分类
临床医学引用本文复制引用
王玉萍,付夏,宁园园,李琴,陈青,武其文..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[J].沈阳医学院学报,2025,27(2):135-140,6.基金项目
国家自然科学基金项目(No.81301512) （No.81301512）
安徽省教育厅高校自然科学研究重点项目(No.2024AH051936) （No.2024AH051936）
