广东医学2025，Vol.46Issue(4)：538-541,4.DOI:10.13820/j.cnki.gdyx.20243448
超声检查正常和异常的高龄孕妇胎儿染色体微阵列分析
Chromosomal microarray analysis of fetuses in advanced maternal age pregnancies with normal or abnormal ultrasound findings
摘要
Abstract
Objective To investigate the value of chromosomal microarray analysis(CMA)in detecting fetal chromosomal abnormalities in advanced maternal age(AMA)pregnancies with normal or abnormal ultrasound findings.Methods A total of 103 cases of single pregnancies with AMA(with or without ultrasound abnormalities,UA)who un-derwent prenatal CMA testing between September 2022 and April 2024 were included.The cases were divided into two groups:AMA without UA(no-UA group)and AMA with UA(UA group).Both CMA and karyotype analysis were per-formed for all participants.Results In the no-UA group(91 subjects),5 cases(5.5％)had clinically significant re-sults,including 3 cases of aneuploidy and 2 cases of pathogenic copy number variations(CNVs).In the UA group(12 subjects),3 cases(25％)had clinically significant results,including 2 cases of aneuploidy and 1 case of pathogenic CNV.The detection rate of clinically significant results in the UA group was significantly higher than that in the no-UA group(25％ vs.5.5％,P＜0.05).Conclusion All AMA pregnancies undergoing invasive prenatal testing,regardless of ultrasound findings,should undergo chromosomal microarray analysis.关键词
高龄孕妇/染色体微阵列分析/核型分析/超声异常Key words
advanced maternal age/chromosomal microarray analysis/karyotype analysis/ultrasound abnormalities分类
临床医学引用本文复制引用
刘利娜,吴和明,郑志远,黄淑娴,陈佳欣,佘玲娜..超声检查正常和异常的高龄孕妇胎儿染色体微阵列分析[J].广东医学,2025,46(4):538-541,4.基金项目
广东省基础与应用基础研究基金企业联合基金项目(2021A1515220106) （2021A1515220106）
梅州市医药卫生科研项目(2024-B-74) （2024-B-74）
