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首页> 外文期刊>Molecular cytogenetics >Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases
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Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases

机译：针对性捕获富集，其次是NGS：染色体非血糖，微缺综合征和单一疾病的单一综合性术的开发和验证

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Background:Non-invasive prenatal testing (NIPT) has been widely adopted for the detection of fetal aneuploidies and microdeletion syndromes, nevertheless, limited clinical utilization has been reported for the non-invasive prenatal screening of monogenic diseases. In this study, we present the development and validation of a single comprehensive NIPT for prenatal screening of chromosomal aneuploidies, microdeletions and 50 autosomal recessive disorders associated with severe or moderate clinical phenotype.Results:We employed a targeted capture enrichment technology powered by custom TArget Capture Sequences (TACS) and multi-engine bioinformatics analysis pipeline to develop and validate a novel NIPT test. This test was validated using 2033 cell-fee DNA (cfDNA) samples from maternal plasma of pregnant women referred for NIPT and paternal genomic DNA. Additionally, 200 amniotic fluid and CVS samples were used for validation purposes. All NIPT samples were correctly classified exhibiting 100% sensitivity (CI 89.7-100%) and 100% specificity (CI 99.8-100%) for chromosomal aneuploidies and microdeletions. Furthermore, 613 targeted causative mutations, of which 87 were unique, corresponding to 21 monogenic diseases, were identified. For the validation of the assay for prenatal diagnosis purposes, all aneuploidies, microdeletions and point mutations were correctly detected in all 200 amniotic fluid and CVS samples.Conclusions:We present a NIPT for aneuploidies, microdeletions, and monogenic disorders. To our knowledge this is the first time that such a comprehensive NIPT is available for clinical implementation.? The Author(s). 2019.
机译：背景：未侵入性产前检测（NIPT）已被广泛用于检测胎儿间倍增性和微缺血综合征，但据报道了对单一疾病的非侵入性产前筛查有限的临床利用。在这项研究中，我们介绍了与严重或中度临床表型相关的染色体非素倍增物，微缺血和50个常染色体隐性疾病的产前筛查的开发和验证。结果：我们采用了由定制目标捕获的有针对性的捕获丰富技术。序列（TACS）和多发动机生物信息学分析管道开发和验证新的NIPT测试。使用来自孕妇的母体血浆的2033个细胞 - 费DNA（CFDNA）样品验证了该测试，所述孕妇患者称为NIPT和父母基因组DNA。另外，200名羊水和CVS样品用于验证目的。所有NIPT样品都是正确分类的，表现出100％敏感性（CI 89.7-100％）和100％特异性（CI 99.8-100％）用于染色体非血糖和微缺失性。此外，鉴定了613个靶向致病性突变，其中87个是独特的，对应于21个单一的疾病。对于对产前诊断目的的测定验证，在所有200羊水和CVS样品中正确检测到所有非血糖剂，微蛋白酶和点突变。结论：我们提出了一种用于非血糖，微缺失性和单体疾病的粘液。据我们所知，这是第一次如此全面的裸条可用于临床实施。作者。 2019年。

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