Clinical application of high-throughput sequencing in the screening of chromosomal aneuploidy, microdeletion and microduplication in twin pregnancy
胡爽 1代鹏 1赵干业 1陈绍宁 1孔祥东1
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作者信息
1. 郑州大学第一附属医院遗传与产前诊断中心，郑州 450001
折叠
摘要
目的 探讨无创产前检测(non-invasive prenatal test, NIPT)在双胎妊娠胎儿染色体非整倍体失微缺及微重复筛查中的临床应用价值，并分析其临床特征。 方法 收集2019年1月至2021年12月于郑州大学第一附属医院遗传与产前诊断中心进行NIPT检测的双胎妊娠孕妇2 413例，结果提示高风险者行侵入性产前诊断确诊。并进行胎儿游离DNA浓度、产前诊断结果、妊娠结局以及重采血样本的原因及结果分析。 结果 在2 413例双胎妊娠孕妇中，共检出52例胎儿染色体高风险，其中4例为21三体、1例18三体、1例13三体、1例8号三体、12例性染色体异常、33例为微缺失微重复(microdeletion microduplication syndrome，MMS)。经侵入性产前诊断或新生儿外周血染色体核型确诊6例为真阳性，其中2例为性染色体异常、4例为微缺失微重复，其相应阳性预测值为28.57%(2/7)、20%(4/20)。21例(0.87%)样本首次检测失败，其中16例(76.19%)因胎儿游离DNA浓度低而重采血。 结论 NIPT检测应用于双胎妊娠有一定的筛查意义，但仍需更多的研究数据来支持其有效性和可靠性。 Objective To explore the clinical application value of non-invasive prenatal diagnosis in screening for chromosome aneuploidies and microdeletions and microduplications(MMS), and analyze the clinical characterizations of twin pregnancy. Methods NIPT was performed on 2 413 twin pregnant women who came to Genetics and Prenatal Diagnosis Center of the First Affiliated Hospital of Zhengzhou University from January 2019 to December 2021, those with high risk were confirmed by amniocentesis. Then cell-free fetal DNA (cffDNA) fraction, the results of prenatal diagnosis, the outcomes of pregnancies and the reasons of re-sampling were all analyzed. Results Among the 2 413 twin pregnancy, 52 samples were with a high risk identified by NIPT, including 4 cases of trisomy 21, 1 case of trisomy 18, 1 case of trisomy 13, 1 case of trisomy 8, 12 cases of sex chromosome abnormality, and 33 cases of MMS. After invasive prenatal diagnosis or neonatal peripheral blood karyotyping, confirmation revealed two true-positive cases of sex chromosome abnormality and 4 true-positive cases of MMS, the corresponding positive predictive value was 28.57%(2/7), 20%(4/20). 21 cases failed in the first test, among which 16 cases accepted re-sampling because of low cffDNA fraction. Conclusion The application of NIPT detection in twin pregnancy has certain screening significance, but more research data are still needed.
Abstract
Objective To explore the clinical application value of non-invasive prenatal diagnosis in screening for chromosome aneuploidies and microdeletions and microduplications(MMS), and analyze the clinical characterizations of twin pregnancy. Methods NIPT was performed on 2 413 twin pregnant women who came to Genetics and Prenatal Diagnosis Center of the First Affiliated Hospital of Zhengzhou University from January 2019 to December 2021, those with high risk were confirmed by amniocentesis. Then cell-free fetal DNA (cffDNA) fraction, the results of prenatal diagnosis, the outcomes of pregnancies and the reasons of re-sampling were all analyzed. Results Among the 2 413 twin pregnancy, 52 samples were with a high risk identified by NIPT, including 4 cases of trisomy 21, 1 case of trisomy 18, 1 case of trisomy 13, 1 case of trisomy 8, 12 cases of sex chromosome abnormality, and 33 cases of MMS. After invasive prenatal diagnosis or neonatal peripheral blood karyotyping, confirmation revealed two true-positive cases of sex chromosome abnormality and 4 true-positive cases of MMS, the corresponding positive predictive value was 28.57%(2/7), 20%(4/20). 21 cases failed in the first test, among which 16 cases accepted re-sampling because of low cffDNA fraction. Conclusion The application of NIPT detection in twin pregnancy has certain screening significance, but more research data are still needed.
关键词
无创产前检测/双胎妊娠/微缺失微重复/胎儿游离DNA
Key words
Non-invasive prenatal diagnosis/Twin pregnancy/Microdeletions and microduplications/Cell-free fetal DNA
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