Trisomy 21 (T21) is one of the most commonly occurring genetic disorders, caused by the partial or complete triplication of chromosome 21. Despite the significant progress in the diagnostic tools applied for prenatal screening, commonly used methods are still imprecise and involve invasive diagnostic procedures that are related to a maternal risk of miscarriage. In this case, novel prenatal biomarkers are still being evaluated using highly specialized techniques, which could increase the diagnostic usefulness of biochemical prenatal screening for T21. From the other hand, the T21′s pathogenesis, caused by the improper division of genetic material, disrupting many metabolic pathways, could be further evaluated with the use of omics methods, which could result in bringing relevant insights for the evaluation of potential medical targets. Accordingly, a literature search was undertaken to collect novel information about prenatal screening for Down syndrome with the use of advanced technology, with a particular emphasis on the evaluation of novel screening biomarkers and the discovery of potential medical targets. These meta-analyses are focused on novel approaches designed with the use of omics techniques, representing the most rapidly developing and promising field in research today. Considering the limitations and progress of these methods, the use of omics techniques in evaluating T21 pathogenesis could bring beneficial results in prenatal screening, simultaneously uncovering novel potential medical targets.

中文翻译：

---

21 三体评估综合途径的新方法

21 三体 (T21) 是最常见的遗传疾病之一，由 21 号染色体的部分或完全三倍体引起。尽管用于产前筛查的诊断工具取得了重大进展，但常用的方法仍然不精确并且涉及侵入性诊断程序与产妇流产风险有关。在这种情况下，仍在使用高度专业化的技术评估新的产前生物标志物，这可能会增加 T21 生化产前筛查的诊断有用性。另一方面，T21的发病机制是由遗传物质的不当分裂引起的，破坏了许多代谢途径，可以通过组学方法进一步评估，这可能为评估潜在的医学靶点带来相关见解。 . 因此，进行了文献检索，以使用先进技术收集有关唐氏综合症产前筛查的新信息，特别强调评估新的筛查生物标志物和发现潜在的医学目标。这些荟萃分析侧重于使用组学技术设计的新方法，代表了当今研究中发展最快和最有前途的领域。考虑到这些方法的局限性和进展，使用组学技术评估 T21 发病机制可以为产前筛查带来有益的结果，同时发现新的潜在医学靶点。特别强调新的筛选生物标志物的评估和潜在医学目标的发现。这些荟萃分析侧重于使用组学技术设计的新方法，代表了当今研究中发展最快和最有前途的领域。考虑到这些方法的局限性和进展，使用组学技术评估 T21 发病机制可以为产前筛查带来有益的结果，同时发现新的潜在医学靶点。特别强调新的筛选生物标志物的评估和潜在医学目标的发现。这些荟萃分析侧重于使用组学技术设计的新方法，代表了当今研究中发展最快和最有前途的领域。考虑到这些方法的局限性和进展，使用组学技术评估 T21 发病机制可以为产前筛查带来有益的结果，同时发现新的潜在医学靶点。