摘要
目的 探讨染色体微阵列分析(chromosomal microarray analysis,CMA)在胎儿超声检查正常或异常(ultrasound abnormalities,UA)的高龄孕妇(advanced maternal age,AMA)的胎儿染色体异常的价值。方法 收集2022年9月至2024年4月期间103例因AMA(伴有或不伴有UA)而进行产前CMA检测的单胎妊娠数据。入组病例分为AMA不伴UA组(不伴UA组)和AMA伴UA组(伴UA组)。同时进行CMA和核型分析。结果 不伴UA组91例受试者中,5例(5.5%)获得有临床意义结果,其中3例核型为非整倍体,2例为致病性基因拷贝数目变异(copy number variations,CNV);伴UA组12例受试者中,3例(25%)获得有临床意义结果,其中2例核型为非整倍体,1例为致病性CNV;伴UA组中有临床意义的检出率明显高于不伴UA组(25%vs.5.5%,P<0.05)。结论 所有接受侵入性产前检查的AMA孕妇,无论超声检查结果如何,都应进行染色体微阵列分析。
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 underwent 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 performed for all participants.Results In the no-UA group(91 subjects),5 cases(5.5%)had clinically significant results,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.
作者
刘利娜
吴和明
郑志远
黄淑娴
陈佳欣
佘玲娜
LIU Li-na;WU He-ming;ZHENG Zhi-yuan;HUANG Shu-xian;CHEN Jia-xin;SHE Ling-na(Prenatal Diagnosis Center,Meizhou People′s Hospital,Meizhou 514031,Guangdong,China)
出处
《广东医学》
2025年第4期538-541,共4页
Guangdong Medical Journal
基金
广东省基础与应用基础研究基金企业联合基金项目(2021A1515220106)
梅州市医药卫生科研项目(2024-B-74)。
关键词
高龄孕妇
染色体微阵列分析
核型分析
超声异常
advanced maternal age
chromosomal microarray analysis
karyotype analysis
ultrasound abnormalities
