染色体微阵列分析技术在NT异常胎儿中的应用价值分析
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南京医科大学附属无锡妇幼保健院

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Analysis of the application value of chromosome microarray analysis technique in NT abnormal fetus
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    摘要:

    目的:探讨胎儿染色体核型及染色体微阵列分析在NT异常胎儿中应用价值。方法:按NT异常是否合并其他指标异常,分为单纯NT异常、NT异常合并超声异常、NT异常合并高龄,NT异常合并不良孕产史,NF异常及胎儿颈部水囊瘤,回顾性分析其介入性产前诊断结果。结果:单纯NT异常组中,胎儿非整倍体及CMA检出率分别为1.887%、13.208%。胎儿颈部水囊瘤组胎儿非整倍体及CMA检出占比最高,分别为:42.857%、28.57%。胎儿非整倍体中21三体及45, X检出占比最高,分别为5.279%、1.173 %;共检出48例胎儿染色体微缺失/微重复,其中致病性及可能致病性拷贝数变异占25%,22q11.21片段重复综合征最常见。311例正常核型中,CMA能多检出15.434%拷贝数异常。结论:面临同样的取样风险,应告知孕妇CMA产前检测技术手段优势,并建议NT异常胎儿行染色体微阵列分析。

    Abstract:

    Analysis of the application value of chromosome microarray analysis technique in NT abnormal fetus HE Shu-feng,ZHAO-Li1,XIAO Jian-ping,ZHANG Jian-ping,SU Jing-Na (The Affiliated Wuxi Matermity and Child Health Care Hospital of Nanjing Medical University,Medical genetics and prenatal diagnostics. wuxi,Jiang su, 214000,China) Objective: To explore the value of chromosome karyotype and CMA in NT abnormal fetus. Methods: Analysis the following prenatal diagnosis results: Simple abnormal NT, abnormal NT and ultrasound, abnormal NT and advanced age, abnormal NT and bad reproductive history, abnormal NF and nuchal cystic hygroma. Results: Fetal aneuploidy(1.887% ) and CMA(13.208%) in the NT group. Fetal aneuploidy(42.857%) and CMA(28.57%)was found in nuchal cystic hygroma. Trisomy 21 (5.279%)and 45, X( 1.173%) had the highest proportion in fetal aneuploidy. Pathogenic and possibly pathogenic copy number variation accounted for 25% in 48 cases chromosome microdeletions/microduplications, and 22q11.21 fragment duplication was the most common. CMA detected 15.434% abnormal copy number in 311 normal karyotypes. Conclusion: At risk of invasive prenatal diagnosis, pregnant women should be informed of the advantages of CMA prenatal testing techniques, and chromosome microarray analysis should be recommended for NT abnormal fetuses.

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  • 收稿日期:2020-11-24
  • 最后修改日期:2021-10-14
  • 录用日期:2022-01-24
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