| 姜纬,邓学东,孙玲玲,王挺,李海波,孙健,章茜.超声软指标在基因组微小异常中的应用价值[J].中国医学影像技术,2018,34(S1):62~66 |
| 超声软指标在基因组微小异常中的应用价值 |
| Application of ultrasound markers in fetal small genome abnormality |
| 投稿时间：2018-09-26 修订日期：2018-11-14 |
| DOI：10.13929/j.1003-3289.201809134 |
| 中文关键词: 胎儿 超声检查 基因组 |
| 英文关键词:Fetus Ultrasonography Genome |
| 基金项目: |
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| 中文摘要: |
| 目的 探讨超声软指标在基因组微小异常诊断中的价值。方法 收集我院产前检查的335名单胎妊娠高危孕妇，对其中超声软指标有异常表现而染色体核型正常的胎儿利用中高通量的CNVplex技术进行基因组筛查分析，分析超声软指标与基因组微小异常的关系。结果 335胎中，超声检测出软指标阳性227胎（227/335，67.76%），阴性108胎（108/335，32.24%）；基因组微小异常47胎，包括微缺失17胎，微重复30胎。鼻骨缺失与基因组微小异常关系最为密切，其次为脉络丛囊肿、肠管强回声，也轻度增加基因组微小异常风险。颈项厚度≥ 6 mm、心室强回声与基因组微小异常无关。结论 单胎妊娠的高危孕妇中软指标阳性胎儿基因组微小异常的发生率高于软指标阴性胎儿，胎儿两项超声软指标阳性可增加基因组微小异常的风险。 |
| 英文摘要: |
| Objective To explore the value of ultrasound markers in the diagnosis of fetal genomic abnormalities. Methods Totally 335 pregnant women with high risk of single pregnancy who underwent prenatal examination were enrolled. The mid-high-throughput CNVplex technique was used to screen and analyze the genome of fetuses with abnormal ultrasound markers and normal karyotype. Results Among 335 pregnant women, 227 (227/335, 67.76%) were positive for ultrasound markers, 108 (108/335, 32.24%) were negative for ultrasound markers, and there were 47 fetuses of microgenomic abnormalities, including 17 microdeletions and 30 microduplication. Nasal bone loss was most closely associated with genomic microabnormalities, followed by choroid plexus cysts and intestinal hyperechoic which could slightly increase the risk of genomic microabnormalities. There was no relationship of nuchal fold (NF)>6 mm, ventricular echo point with mild pyelonephrosis. Conclusion The incidence of small abnormalities in ultrasound markers positive fetuses is higher than that in ultrasound markers negative fetuses in high-risk pregnant women with single pregnancy. Fetal two positive ultrasound markers can increase the risk of genomic abnormalities. |
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