West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Edgbaston, United Kingdom.
West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Edgbaston, United Kingdom.
J Mol Diagn. 2020 Sep;22(9):1151-1161. doi: 10.1016/j.jmoldx.2020.06.001. Epub 2020 Jun 15.
A relative haplotype dosage (RHDO)-based method was developed and implemented into routine clinical practice for noninvasive prenatal diagnosis (NIPD) of multiple single-gene disorders: spinal muscular atrophy, Duchenne and Becker muscular dystrophies, and cystic fibrosis. This article describes the experiences of the first 152 pregnancies to have NIPD by RHDO as part of a routine clinical service. Provision of results within a clinically useful time frame (mean, 11 calendar days) was shown to be possible, with a very low failure rate (4%), none being due to a technical failure. Where follow-up confirmatory testing was performed for audit purposes, 100% concordance was seen with the NIPD result, and no discrepancies have been reported. The robust performance of the assay, together with high sensitivity and specificity, demonstrates that NIPD by RHDO is feasible for use in a clinical setting.
建立了一种基于相对单倍型剂量（RHDO）的方法，并将其应用于多种单基因疾病的无创产前诊断（NIPD）的常规临床实践中：脊髓性肌萎缩症、杜氏和贝克肌营养不良症以及囊性纤维化。本文描述了作为常规临床服务的一部分，通过 RHDO 进行的前 152 例 NIPD 妊娠的经验。结果显示，在临床有用的时间范围内（平均 11 个日历日）提供结果是可行的，失败率非常低（4%），且均非技术失败所致。为了审核目的进行了后续的确认性检测，与 NIPD 结果的一致性为 100%，并且没有报告任何差异。该检测方法的稳健性能以及高灵敏度和特异性表明，RHDO 的 NIPD 可在临床环境中使用。
