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    方媛, 顾丽泽, 王亿, 顾茂胜, 李绍东. 胎儿超声软指标与染色体拷贝数变异的相关性研究[J]. 徐州医科大学学报, 2022, 42(6): 419-423. DOI: 10.3969/j.issn.2096-3882.2022.06.006
    引用本文: 方媛, 顾丽泽, 王亿, 顾茂胜, 李绍东. 胎儿超声软指标与染色体拷贝数变异的相关性研究[J]. 徐州医科大学学报, 2022, 42(6): 419-423. DOI: 10.3969/j.issn.2096-3882.2022.06.006
    Study on the Correlation between Fetal Ultrasound Soft Marker and Chromosome Copy Number Variation[J]. Journal of Xuzhou Medical University, 2022, 42(6): 419-423. DOI: 10.3969/j.issn.2096-3882.2022.06.006
    Citation: Study on the Correlation between Fetal Ultrasound Soft Marker and Chromosome Copy Number Variation[J]. Journal of Xuzhou Medical University, 2022, 42(6): 419-423. DOI: 10.3969/j.issn.2096-3882.2022.06.006

    胎儿超声软指标与染色体拷贝数变异的相关性研究

    Study on the Correlation between Fetal Ultrasound Soft Marker and Chromosome Copy Number Variation

    • 摘要: 目的 探讨胎儿超声软指标与染色体拷贝数变异(copy number variations,CNVs)的相关性,为超声软指标胎儿的产前诊断策略选择提供可靠依据?方法 选取2019年12月至2021年12月期间于徐州市妇幼保健院就诊,超声检查提示胎儿超声软指标但未合并明显超声结构异常的单胎妊娠孕妇580例,经羊膜腔穿刺术抽取羊水行染色体微阵列分析(chromosomal microarray analysis,CMA)?根据软指标数目将其分为单项超声软指标组486例、两项及以上超声软指标组94例;单项超声软指标根据不同类型将其分为10个亚组,比较各组及各亚组之间染色体CNVs的发生率?结果 580例样本中染色体CNVs总体发生率为13.4%(78/580),其中两项及以上超声软指标组染色体CNVs发生率为31.9%(30/94),明显高于单项超声软指标组9.9%(48/486),差异有统计学意义(P<0.001)

       

      Abstract: ob<x>jective To explore the correlation between fetal soft ultrasound markers and chromosomal copy number variations (CNVs), thus providing experimental evidence for the choosing of prenatal diagnosis for fetus with fetal soft ultrasound markers. Methods A retrospective analysis was performed on 580 singleton pregnant women with ultrasound examination showed soft indicators of fetal ultrasound not accompanied with obvious ultrasonic structural abnormalities who received medical treatment in Xuzhou Maternal and Child Health Hospital from December 2019 to December 2021.??Chromosomal Microarray Analysis of Amniotic Fluid Extraction (CMA) ?.??According to the number of soft indexes, the pregnant women were divided into single ultrasonic soft indexes group (486 cases) and two or more ultrasonic soft indexes group (94 cases).??Single ultrasonic soft indexes were divided into 10 subgroups according to different types, and the incidence of CNVs in each group and among each subgroup was compared. ?Results The overall incidence of chromosomal CNVs in 580 samples was 13.4% (78/580). The incidence of chromosomal CNVs in the group with two or more soft ultrasound indexes was 31.9% (30/94), which was significantly higher than that in the group with single soft ultrasound marker (9.9%, 48/486).?The difference was statistically significant (P<0.001). ?The higher chromosome CNVs detection rate in single soft ultrasound index group was: nasal bone deletion/incomplete ossification 17.3% (18/104), cervical transparent la<x>yer (NT) thickening/posterior cervical skin folds (NF) 14.2% (15/106). Conclusion In prenatal counseling, CMA is recommended for invasive prenatal diagnosis in pregnancy women with two or more soft ultrasound marker and single soft ultrasound marker, such as nasal bone loss/incomplete ossification and NT/NF thickening.

       

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