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| 对于全基因组检测胎儿拷贝数变异的一种非侵入性产前检测的临床验证 Clinical validation of a noninvasive prenatal test for genomewide detection of fetal copy number variants
摘要 BACKGROUND: 背景： Current cell-free DNA assessment of fetal chromosomes does not analyze and report on all chromosomes. Hence, a significant proportion of fetal chromosomal abnormalities are not detectable by current noninvasive methods. Here we report the clinical validation of a novel noninvasive prenatal test (NIPT) designed to detect genomewide gains and losses of chromosomal material ≥7 Mb and losses associated with specific deletions <7 Mb. 胎儿染色体DNA分析评估当前不在所有染色体的报告。因此，胎儿染色体异常的一个显著比例不能由当前无创方法检测到。在这里，我们报道了一种新型的无创性产前检测的临床验证（NIPT）为了检测全基因组染色体物质的得失≥7 MB和与特定缺失相关的损失< 7 MB。 OBJECTIVE: 目的： The objective of this study is to provide a clinical validation of the sensitivity and specificity of a novel NIPT for detection of genomewide abnormalities. 本研究的目的是提供一种新的用于NIPT 检测基因组异常的敏感性和特异性的临床验证。 STUDY DESIGN: 研究设计： This retrospective, blinded study included maternal plasma collected from 1222 study subjects with pregnancies at increased risk for fetal chromosomal abnormalities that were assessed for trisomy 21 (T21), trisomy 18 (T18), trisomy 13 (T13), sex chromosome aneuploidies (SCAs), fetal sex, genomewide copy number variants (CNVs) ≥7 Mb, and select deletions <7 Mb. Performance was assessed by comparing test results with findings from G-band karyotyping, microarray data, or high coverage sequencing. 这项回顾性的、双盲的研究包括1222例研究对象母亲的血浆收集，与随着怀孕的胎儿染色体异常的风险增加，进行了评估21三体综合症（T21）、18三体综合征（T18）、13三体综合征（T13），性染色体非整倍体（SCAS）、胎儿性别、全基因组拷贝数变异（CNVs）≥7 MB，并选择删除< 7 MB。性能通过测试结果与G带核型分析、微阵列数据、或高覆盖率的测序结果进行比较评估。 RESULTS: 结果: Clinical sensitivity within this study was determined to be 100% for T21 (95% confidence interval [CI], 94.6-100%), T18 (95% CI, 84.4-100%), T13 (95% CI, 74.7-100%), and SCAs (95% CI, 84-100%), and 97.7% for genomewide CNVs (95% CI, 86.2-99.9%). Clinical specificity within this study was determined to be 100% for T21 (95% CI, 99.6-100%), T18 (95% CI, 99.6-100%), and T13 (95% CI, 99.6-100%), and 99.9% for SCAs and CNVs (95% CI, 99.4-100% for both). Fetal sex classification had an accuracy of 99.6% (95% CI, 98.9-99.8%). 本研究中的临床敏感性被确定为100%，T21（95%可信区间[CI]，94.6-100 %），T18（95% CI，84.4-100 %）、T13（95% CI，74.7-100 %），和SCAs（95% CI，84-100%）全基因组拷贝数变异，和97.7%（95% CI，86.2-99.9 %）。本研究中的临床特异性被确定为100%，T21（95% CI，99.6-100 %），T18（95% CI，99.6-100 %），和T13（95% CI，99.6-100 %），和99.9%的SCAs和CNVs（95% CI，同时为99.4-100 %）。胎儿性别分类的准确性为99.6%（95% CI，98.9-99.8 %）。 CONCLUSION: 结论： This study has demonstrated that genomewide NIPT for fetal chromosomal abnormalities can provide high resolution, sensitive, and specific detection of a wide range of subchromosomal and whole chromosomal abnormalities that were previously only detectable by invasive karyotype analysis. In some instances, this NIPT also provided additional clarification about the origin of genetic material that had not been identified by invasive karyotype analysis. 这项研究表明，基因组NIPT为胎儿染色体异常可以提供高分辨率的、敏感的、和一个广泛的染色体染色体异常，以前只检测到入侵的核型分析和特异性检测。在某些情况下，这种NIPT还提供了有关的遗传物质的来源，有没有被侵入性染色体核型分析确定的遗传物质。 原文： |
