Optical genome mapping for detection of chromosomal aberrations in prenatal diagnosis.
Optical genome mapping for detection of chromosomal aberrations in prenatal diagnosis.
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DOI：
10.1111/aogs.14613
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发表时间：
2023-08
影响因子：
4.3
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中科院分区：
文献类型：
--
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染色体畸变是出生缺陷最重要的病因。光学基因组图谱是一种新颖的细胞遗传学工具，可在单次检测中检测广泛的染色体畸变，但光学基因组图谱在产前诊断中的相关临床可行性研究有限。我们回顾性地对 34 个胎儿的羊水样本进行了光学基因组图谱分析，这些胎儿具有各种临床适应症和通过标准护理技术检测到的染色体畸变，包括核型分析、荧光原位杂交和/或染色体微阵列分析。我们总共分析了 34 个羊水样本中的 46 个染色体畸变，包括 5 个非整倍体、10 个大拷贝数变异、27 个微缺失/微重复、2 个易位、1 个等染色体和 1 个纯合性区域。总体而言，我们定制的分析策略可以确认 45 种染色体畸变。光学基因组作图以盲法方式对所有染色体畸变的临床诊断与标准护理方法的一致性达到了 97.8%。与广泛使用的染色体微阵列分析相比，光学基因组图谱还确定了七个重复或三倍病例的重复片段的相对方向和位置。光学基因组图谱提供的附加信息将有助于表征复杂的染色体重排，并使我们能够提出解释重排和预测遗传复发风险的机制。我们的研究强调，光学基因组作图可以在一次测试中提供有关染色体畸变的全面而准确的信息，这表明光学基因组作图有潜力成为产前诊断的有前途的细胞遗传学工具。通过单一测试平台，光学基因组图谱对所有染色体畸变的临床诊断与标准护理方法的一致性达到了 97.8%，这表明光学基因组图谱有潜力成为产前诊断的一种有前景的细胞遗传学工具。
Chromosomal aberrations are the most important etiological factors for birth defects. Optical genome mapping is a novel cytogenetic tool for detecting a broad range of chromosomal aberrations in a single assay, but relevant clinical feasibility studies of optical genome mapping in prenatal diagnosis are limited. We retrospectively performed optical genome mapping analysis of amniotic fluid samples from 34 fetuses with various clinical indications and chromosomal aberrations detected through standard‐of‐care technologies, including karyotyping, fluorescence in situ hybridization, and/or chromosomal microarray analysis. In total, we analyzed 46 chromosomal aberrations from 34 amniotic fluid samples, including 5 aneuploidies, 10 large copy number variations, 27 microdeletions/microduplications, 2 translocations, 1 isochromosome, and 1 region of homozygosity. Overall, 45 chromosomal aberrations could be confirmed by our customized analysis strategy. Optical genome mapping reached 97.8% concordant clinical diagnosis with standard‐of‐care methods for all chromosomal aberrations in a blinded fashion. Compared with the widely used chromosomal microarray analysis, optical genome mapping additionally determined the relative orientation and position of repetitive segments for seven cases with duplications or triplications. The additional information provided by optical genome mapping will be conducive to characterizing complex chromosomal rearrangements and allowing us to propose mechanisms to explain rearrangements and predict the genetic recurrence risk. Our study highlights that optical genome mapping can provide comprehensive and accurate information on chromosomal aberrations in a single test, suggesting that optical genome mapping has the potential to become a promising cytogenetic tool for prenatal diagnosis. Optical genome mapping reached 97.8% concordant clinical diagnosis with standard‐of‐care methods for all chromosomal aberrations by a singular testing platform, suggesting that optical genome mapping has the potential to become a promising cytogenetic tool for prenatal diagnosis.
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2
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影响因子：
5.3
作者：
Chen M;Zhang M;Qian Y;Yang Y;Sun Y;Liu B;Wang L;Dong M
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通讯作者：
Phillippy, Adam M
影响因子：
4.4
作者：
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通讯作者：
Mulle, Jennifer Gladys
影响因子：
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通讯作者：
Kolhe, Ravindra