Xiao Hui, Xiao Junfang, Zhang Huan, Huang Shuhui, Lu Qing, Yuan Huizhen, Zou Yongyi, Yang Bicheng, Liu Yanqiu
Department of Medical Genetics, Jiangxi Maternal and Child Health Hospital, Nanchang, China.
Front Genet. 2025 Aug 25;16:1649253. doi: 10.3389/fgene.2025.1649253. eCollection 2025.
The aim of this study was to determine the diagnostic value of prenatal chromosomal microarray analysis (CMA) for fetuses at high risk for various conditions on chromosomal abnormalities.
In the study, 8,560 clinical samples were collected from pregnant women between February 2018 and June 2022, including 75 villus, 7,642 amniotic fluid, and 843 umbilical cord blood samples. All samples were screening for chromosomal abnormalities using both CMA and karyotyping. This retrospective analysis included 8,560 pregnancies with high-risk indications for invasive prenatal diagnosis, mainly including ultrasound anomalies, high risk for maternal serum screening (MMS), high risk for non-invasive prenatal tests (NIPTs), family history of genetic disorders or birth defects, and advanced maternal age (AMA). All samples were evaluated using invasive CMA. The rate of clinically significant genomic imbalances between the different groups was compared.
The success rate of CMA was 99.95% (8,556/8,560). A total of 1,037 samples (12.11%, 1,037/8,560) were presented with chromosomal abnormalities using CMA, whereas 803 samples (9.38%, 803/8,560) were shown with chromosomal abnormalities using karyotyping. The overall prenatal diagnostic yield was 1,040 (12.14%) of 8,560 pregnancies. Clinically significant genomic aberrations were identified in 153 (6.21%) of 2,463 patients with non-structural ultrasound anomalies, 79 (6.38%) of 1,238 with structural ultrasound anomalies, 37 (4.26%) of 868 at high risk from MSS, 395 (42.29%) of 934 at high risk from NIPTs, 16 (2.94%) of 544 with a family history, 7 (1.89%) of 369 with AMA, 1 (1.56%) of 64 with a history of adverse exposure, 10 (4.46%) of 224 with parental chromosome anomaly, and 9 (2.99%) of 301 with other indications.
CMA has a greater diagnostic value for screening chromosomal abnormalities, especially in pregnant women with normal karyotypes. The diagnostic yields of CMA for pregnancies with different indications greatly varied. CMA could serve as a first-tier test for structural anomalies, especially multiple anomalies, hydrops fetalis, cystic hygroma, and thickened nuchal translucency or nuchal fold.
本研究旨在确定产前染色体微阵列分析（CMA）对各种染色体异常高危胎儿的诊断价值。
本研究收集了2018年2月至2022年6月期间孕妇的8560份临床样本，包括75份绒毛样本、7642份羊水样本和843份脐带血样本。所有样本均使用CMA和核型分析进行染色体异常筛查。这项回顾性分析纳入了8560例有侵入性产前诊断高危指征的妊娠，主要包括超声异常、母血清筛查（MMS）高危、无创产前检测（NIPT）高危、遗传疾病或出生缺陷家族史以及高龄产妇（AMA）。所有样本均采用侵入性CMA进行评估。比较不同组间具有临床意义的基因组失衡率。
CMA的成功率为99.95%（8556/8560）。使用CMA共检测出1037份样本（12.11%，1037/8560）存在染色体异常，而使用核型分析检测出803份样本（9.38%，803/8560）存在染色体异常。8560例妊娠的总体产前诊断率为1040例（12.14%）。在2463例非结构性超声异常患者中，153例（6.21%）检测出具有临床意义的基因组畸变；在1238例结构性超声异常患者中，79例（6.38%）检测出基因组畸变；在868例MMS高危患者中，37例（4.26%）检测出基因组畸变；在934例NIPT高危患者中，395例（42.29%）检测出基因组畸变；在544例有家族史的患者中，16例（2.94%）检测出基因组畸变；在369例AMA患者中，7例（1.89%）检测出基因组畸变；在64例有不良暴露史的患者中，1例（1.56%）检测出基因组畸变；在224例父母染色体异常的患者中，10例（4.46%）检测出基因组畸变；在301例有其他指征的患者中，9例（2.99%）检测出基因组畸变。
CMA在筛查染色体异常方面具有更大的诊断价值，尤其是对于核型正常的孕妇。CMA对不同指征妊娠的诊断率差异很大。CMA可作为结构性异常的一线检测方法，尤其是多种异常、胎儿水肿、囊性水瘤以及颈项透明层增厚或颈项皱襞增厚的情况。
