高龄孕妇中CMA联合染色体核型分析与胎儿超声软指标异常的相关性研究  

A study on the correlation between CMA combined with karyotype analysis and fetal ultrasound soft marker abnormalities in advanced maternal age pregnancies

作　　者：南连玲 马玉霞 张静 石晓 Nan Lianling;Ma Yuxia;Zhang Jing;Shi Xiao(Prenatal Diagnosis Center,Linyi Central Hospital,Linyi 276000,China)

机构地区：[1]临沂市中心医院产前诊断中心,临沂276000

出　　处：《国际遗传学杂志》2025年第1期17-22,共6页International Journal of Genetics

摘　　要：目的评估染色体微阵列分析(chromosomal microarray analysis,CMA)联合染色体核型分析在高龄孕妇胎儿染色体异常检出中的效能,并探讨超声软指标异常与染色体异常的相关性,以期为高龄孕妇提供更加精准的产前诊断策略。方法本研究回顾性分析了2020年1月至2023年11月在临沂市中心医院294例高龄孕妇的产前诊断数据,按照是否合并胎儿超声软指标异常将孕妇分为观察组(121例)与对照组(173例)。所有研究对象均接受了羊水染色体核型分析及CMA检测。分析两组间染色体异常检出情况和染色体异常检出率的差异。结果观察组的总染色体异常检出率(25.62%)显著高于对照组(16.18%),差异具有统计学意义(P=0.047)。其中观察组拷贝数变异(copy number variation,CNV)的检出率(17.3%)较对照组(13.3%)显著增加(P=0.028)。在观察组中,胎儿鼻骨缺失、肠管回声增强和颈项透明层(nuchal translucency,NT)增厚的染色体异常检出率分别为66.67%、42.85%和28.57%,提示这些软指标异常与染色体异常之间存在显著关联。结论CMA联合染色体核型分析能显著提高高龄孕妇胎儿染色体异常的检出率,尤其在合并超声软指标异常时,CMA对检出CNV的应用优势更加突出。超声软指标异常可作为高龄孕妇进一步遗传学检测的指导指征,为高龄孕妇提供更精确的产前诊断和妊娠管理策略提供了重要参考。ObjectiveTo evaluate the effectiveness of chromosomal microarray analysis(CMA)combined with karyotype analysis in detecting fetal chromosomal abnormalities in advanced maternal age pregnancies,and to explore the correlation between ultrasound soft marker abnormalities and chromosomal abnormalities.The goal is to provide a more accurate prenatal diagnostic strategy for advanced maternal age pregnancies.MethodsThis retrospective study analyzed prenatal diagnostic data from 294 advanced maternal age pregnanciesfrom January 2020 to November 2023 at Linyi Central Hospital.Participants were divided into an observation group(121 cases)and a control group(173 cases)based on the presence or absence of fetal ultrasound soft marker abnormalities.All participants underwent amniotic fluid karyotype analysis and CMA testing.Analyze the detection of chromosomal abnormalities and the differences in chromosomal abnormality detection rates between the two groups,assessing statistical significance.ResultsThe overall chromosomal abnormality detection rate in the observation group(25.62%)was significantly higher than that in the control group(16.18%),The difference is statistically significant(P=0.047).The detection rate of copy number variations(CNV)in the observation group(17.3%)was also significantly higher than that in the control group(13.3%),with P=0.028.Among the observation group,the chromosomal abnormality detection rates for fetal nasal bone absence,echogenic bowel,and increased nuchal translucency(NT)were 66.67%,42.85%,and 28.57%,respectively,indicating a significant association between these soft marker abnormalities and chromosomal abnormalities.ConclusionsThis study confirms that the combination of CMA and karyotype analysis significantly improves the detection rate of fetal chromosomal abnormalities in advanced maternal age pregnancies,particularly in cases with ultrasound soft marker abnormalities,where CMA demonstrates a distinct advantage in detecting CNV.Ultrasound soft marker abnormalities can serve as an importan

关 键 词：产前诊断 染色体微阵列分析 染色体核型分析 超声软指标 

分 类 号：R714.5[医药卫生—妇产科学]