Department of Neonatology, Changzhou Maternal and Child Health Care Hospital affiliated to Nanjing Medical University, No. 16 Ding Xiang Road, Changzhou, Jiangsu Province, China.
Department of Medical Genetics, Changzhou Maternal and Child Health Care Hospital affiliated to Nanjing Medical University, No. 16 Ding Xiang Road, Changzhou, Jiangsu Province, China.
Orphanet J Rare Dis. 2021 Nov 18;16(1):481. doi: 10.1186/s13023-021-02116-5.
To explore the clinical application of NeoSeq in newborn screening.
Based on the results obtained from traditional newborn screening (NBS) with tandem mass spectrometry (TMS), three cohorts were recruited into the present study: 36 true positive cases (TPC), 60 false-positive cases (FPC), and 100 negative cases. The dried blood spots of the infants were analyzed with NeoSeq, which is based on multiplex PCR amplicon sequencing.
Overall, the sensitivity of NeoSeq was 55.6% (20/36) in the detection of TPC. NeoSeq detected disease-related genes in 20 of 36 TPC infants, while it could not identify these genes in eight children. Five cases (3.1%) with disease risk were additionally found in the FPC and NC cohorts. There was a significant difference in the diagnostic time between the two methods-10 days for NeoSeq vs. 43 days for traditional NBS.
NeoSeq is an economic genomic screening test for newborn screening. It can detect most inborn errors of metabolism, reduce the rate of false positive results, shorten the porting cycles, and reduce the screening cost. However, it is still necessary to further optimize the panel design and add more clinically relevant genomic variants to increase its sensitivity.
探索 NeoSeq 在新生儿筛查中的临床应用。
基于串联质谱法（TMS）进行传统新生儿筛查（NBS）的结果，本研究纳入了三个队列：36 例真阳性病例（TPC）、60 例假阳性病例（FPC）和 100 例阴性病例。采用基于多重 PCR 扩增子测序的 NeoSeq 分析婴儿的干血斑。
总体而言，NeoSeq 检测 TPC 的敏感性为 55.6%（20/36）。NeoSeq 在 36 例 TPC 婴儿中检测到与疾病相关的基因，但在 8 名儿童中无法识别这些基因。在 FPC 和 NC 队列中还发现了 5 例（3.1%）有疾病风险的病例。两种方法的诊断时间有显著差异，NeoSeq 为 10 天，传统 NBS 为 43 天。
NeoSeq 是一种经济的新生儿基因组筛查试验。它可以检测大多数先天性代谢缺陷，降低假阳性率，缩短报告周期，并降低筛查成本。然而，仍有必要进一步优化面板设计，并添加更多临床相关的基因组变异，以提高其敏感性。
