Department of Operative/Restorative Dentistry, Periodontology and Pedodontics, Ludwig-Maximilians-Universität München, 80336 Munich, Germany.
Laboratory Labor Becker MVZ eGbR, 81671 Munich, Germany.
Genes (Basel). 2024 Nov 13;15(11):1467. doi: 10.3390/genes15111467.
BACKGROUND/OBJECTIVES: Genetic newborn screening (NBS) has already entered the phase of common practice in many countries. In Germany, spinal muscular atrophy (SMA), severe combined immunodeficiency (SCID) and sickle cell disease (SCD) are currently a mandatory part of NBS. Here, we describe the experience of six years of genetic NBS including the prevalence of those three diseases in Germany.
Samples and nucleic acids were extracted from dried blood spot cards, commonly used for NBS. A qPCR assay was used to detect disease-causing variants for SMA and SCD, and the detection of T-cell receptor excision circles (TRECs) was performed for SCID screening.
The results of the NBS of over 1 million newborns for SMA, approximately 770,000 for SCID and over 410,000 for SCD are discussed in detail. In these newborns, we have identified 121 cases of SMA, 15 cases of SCID and syndrome-based immunodeficiencies and 77 cases of SCD or β-thalassemia.
The flexibility of multiplex qPCR is assessed as an effective tool for incorporating different molecular genetic markers for screening. The processing of dried blood spot (DBS) filter cards for molecular genetic assays and the assays are described in detail; turn-around times and cost estimations are included to give an insight into the processes and discuss further options for optimization. The identified cases are in the range expected for the total number of screened newborns, but present a more exact view on the actual prevalences for Germany.
背景/目的：遗传新生儿筛查（NBS）已在许多国家进入常规实践阶段。在德国，脊髓性肌萎缩症（SMA）、严重联合免疫缺陷（SCID）和镰状细胞病（SCD）目前是 NBS 的强制性组成部分。在这里，我们描述了六年遗传 NBS 的经验，包括这三种疾病在德国的流行情况。
从干血斑卡中提取样本和核酸，这是 NBS 常用的方法。使用 qPCR 检测 SMA 和 SCD 的致病变异，使用 T 细胞受体切除环（TREC）检测 SCID 筛查。
详细讨论了超过 100 万例 SMA、约 77 万例 SCID 和超过 41 万例 SCD 的 NBS 结果。在这些新生儿中，我们已经确定了 121 例 SMA、15 例 SCID 和基于综合征的免疫缺陷以及 77 例 SCD 或β-地中海贫血病例。
多重 qPCR 的灵活性被评估为一种有效的工具，可用于纳入不同的分子遗传标记进行筛查。详细描述了干血斑（DBS）过滤卡的分子遗传学检测处理和检测过程；包括周转时间和成本估算，以深入了解这些过程并讨论进一步优化的选择。所确定的病例与筛查的新生儿总数预期相符，但更准确地反映了德国的实际流行情况。
