Optical Genome Mapping as a Next-Generation Cytogenomic Tool for Detection of Structural and Copy Number Variations for Prenatal Genomic Analyses.
Optical Genome Mapping as a Next-Generation Cytogenomic Tool for Detection of Structural and Copy Number Variations for Prenatal Genomic Analyses.
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DOI：
10.3390/genes12030398
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发表时间：
2021-03-11
期刊：
影响因子：
3.5
通讯作者：
Chaubey A
中科院分区：
文献类型：
--
作者：
Sahajpal NS;Barseghyan H;Kolhe R;Hastie A;Chaubey A
全球医学协会（ACOG、ISUOG、ACMG）建议进行诊断性产前检测，以检测和预防遗传性疾病。历史上，核型分析、荧光原位杂交 (FISH) 和染色体微阵列 (CMA) 等细胞遗传学方法在世界范围内被用来诊断常见综合征。然而，这些方法中的每一种的局限性，无论是串联还是同时执行，都表明需要一种革命性的技术来减轻对多种技术的需求。光学基因组作图 (OGM) 是一种新颖的方法，它能够检测所有类别的结构变异 (SV)，包括拷贝数变异 (CNV)，从而填补了这一空白。实验室正在采用 OGM 作为治疗产后体质遗传性疾病和血液恶性肿瘤的工具。本评论强调了 OGM 成为产前基因检测护理标准的潜力，因为它能够全面识别大型平衡和不平衡 SV（目前核型分析和中期 FISH 的强度）、CNV（通过 CMA）、重复收缩障碍（通过 Southern 印迹）和多重重复扩张障碍（通过基于 PCR 的方法或 Southern 印迹）。下一代测序 (NGS) 方法在检测序列变异方面非常出色，但它们无法准确解析基因组的重复区域，这限制了它们检测所有类别 SV 的能力。值得注意的是，世界各地的常规临床实验室使用多种分子方法来识别重复扩张和收缩疾病。随着无创产前检测 (NIPT) 成为全球所有妊娠护理筛查检测的标准，我们预计 OGM 可以提供高分辨率的细胞基因组检测，用于 NIPT 筛查阳性后或超声异常的高危妊娠。通过 OGM 准确检测所有类型的遗传性疾病，例如活产非整倍体、性染色体异常、微缺失/微重复综合征、重复扩张/收缩疾病，是减轻全球遗传性疾病负担的关键。
Global medical associations (ACOG, ISUOG, ACMG) recommend diagnostic prenatal testing for the detection and prevention of genetic disorders. Historically, cytogenetic methods such as karyotype analysis, fluorescent in situ hybridization (FISH) and chromosomal microarray (CMA) are utilized worldwide to diagnose common syndromes. However, the limitations of each of these methods, either performed in tandem or simultaneously, demonstrates the need of a revolutionary technology that can alleviate the need for multiple technologies. Optical genome mapping (OGM) is a novel method that fills this void by being able to detect all classes of structural variations (SVs), including copy number variations (CNVs). OGM is being adopted by laboratories as a tool for both postnatal constitutional genetic disorders and hematological malignancies. This commentary highlights the potential for OGM to become a standard of care in prenatal genetic testing based on its capability to comprehensively identify large balanced and unbalanced SVs (currently the strength of karyotyping and metaphase FISH), CNVs (by CMA), repeat contraction disorders (by Southern blotting) and multiple repeat expansion disorders (by PCR-based methods or Southern blotting). Next-generation sequencing (NGS) methods are excellent at detecting sequence variants, but they are unable to accurately resolve repeat regions of the genome, which limits their ability to detect all classes of SVs. Notably, multiple molecular methods are used to identify repeat expansion and contraction disorders in routine clinical laboratories around the world. With non-invasive prenatal testing (NIPT) becoming the standard of care screening assay for all global pregnancies, we anticipate that OGM can provide a high-resolution, cytogenomic assay to be employed following a positive NIPT screen or for high-risk pregnancies with an abnormal ultrasound. Accurate detection of all types of genetic disorders by OGM, such as liveborn aneuploidies, sex chromosome anomalies, microdeletion/microduplication syndromes, repeat expansion/contraction disorders is key to reducing the global burden of genetic disorders.
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