CNV-seq技术在1395例高龄孕妇产前诊断中的临床应用评价
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兰州市科技计划项目(2017-4-50)


Clinical evaluation of CNV⁃seq technology in prenatal diagnosis of 1 395 elderly pregnant women
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    摘要:

    目的:评价染色体拷贝数变异测序技术在高龄孕妇产前诊断中的应用价值。方法:选取2018-2019年于甘肃省妇幼保健院医学遗传中心单纯因高龄行羊水穿刺的羊水样本1395份,应用染色体拷贝数变异测序技术分析所有样本的染色体检查结果。结果:本研究对1395例羊水样本进行CNV-seq技术,共检出染色体非整倍体异常共检出30例,检出率2.15%(30/1395)。其中检出21三体18例,性染色体非整倍体异常7例(其中有2例为嵌合体),18三体2例,其他常染色体非整倍体2例。检出致病性pCNVs共19例,检出率为1.36%(19/1395),检出临床意义不明的CNV(VOUS CNVs)37例,检出率2.65%(37/1395),未见异常或者致病性染色体异常34例(2.33%)。结论:CNV-seq是检测该种染色体畸变的有效方法,因此对高龄孕妇的产前诊断联合应用核型分析和CNV-seq有很重要的临床意义,但在临床应用中同样要注意该技术的局限性。

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    Abstract: Objective To evaluate the application value of chromosome copy number variation sequencing ( CNV-seq) technology in prenatal diagnosis of elderly pregnant women. Methods A total of 1 395 amniotic fluid samples were collected from pregnant women who were adnmitted in the M edical Genetics Center of Gansu Maternity and Child Health Hospital during January 2018 and December 2019 and undenvent amniocentesis simply because of elder age, and were performed CNV-seq based on high-throughput sequencing.Then, CNV data were annotated using ClinVar, DECIPHER, OMIM and DGV database, the pathogenicity of CNV was evaluated according to ACMG, and relevant reports were retrieved through PubMed database. Results A total of 30 chromosomal aneuploidy abnommalities, ineluding 18 cases of trisomy 21, 2 cases of trisomy 18, 8 cases of sex chromosome aneuploidy ( containing 2 cases of chimerism) and 2 cases of other autosome aneuploidy , were detected, and the detection mte was 2. 15%(30/ 1395). A total of 19 pathogenic CNVs ( pCNVs) were detected, and the detection rate was 1.36%( 19/1 395). Thirty-seven copy number variations with unknown clinical significance ( VUS CNVs) were detected, and the detection rate was 2.65%(37/1 395). There were 48 benign CNVs (B CNVs), and the detection rate was 3.44%( 48/1 395). Conclusion CNV-seq technology can improve the detection rate of chromosomal abnormalities in elderly pregnant women. In addition, the combined application of CNV-Seq and karyotype analysis technology has very important clinical significance in the prenatal diagnosis of elderly pregnant women.

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冯暄,郝胜菊,张庆华,何静,张钏,蔺鹏武,郭媛媛,周秉博. CNV-seq技术在1395例高龄孕妇产前诊断中的临床应用评价[J].临床检验杂志,2022,40(03):190-193

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  • 收稿日期:2021-07-17
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  • 在线发布日期: 2022-06-08
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