基因筛查时代脊髓性肌萎缩症的产前管理及子宫内治疗的新机遇

Prenatal Management of Spinal Muscular Atrophy in the Era of Genetic Screening and Emerging Opportunities in In Utero Therapy.

作者信息

Mežnarić Silvestar, Belančić Andrej, Rački Valentino, Vitezić Dinko, Mršić-Pelčić Jasenka, Pilipović Kristina

机构信息

Department of Basic and Clinical Pharmacology and Toxicology, Faculty of Medicine, University of Rijeka, 51000 Rijeka, Croatia.

Department of Neurology, Faculty of Medicine, University of Rijeka, 51000 Rijeka, Croatia.

出版信息

Biomedicines. 2025 Jul 22;13(8):1796. doi: 10.3390/biomedicines13081796.

Abstract

Spinal muscular atrophy (SMA) is a severe autosomal recessive neuromuscular disorder and a leading genetic cause of infant mortality. Advances in disease-modifying therapies have significantly improved outcomes when treatment is initiated early, underscoring the importance of timely diagnosis. With the growing availability of prenatal genetic screening and high-resolution molecular diagnostics, opportunities for early detection, and potentially in utero intervention, are rapidly expanding. This narrative review synthesizes current evidence on the prenatal management of SMA, focusing on diagnostic strategies, the clinical application of fetal genetic testing, and the emerging potential of fetal therapy. We explore both invasive and non-invasive diagnostic approaches and evaluate experimental prenatal treatment modalities, while critically addressing the associated ethical, regulatory, and economic considerations. As the field progresses, integrating in utero strategies into clinical care may reshape perinatal medicine and offer transformative potential for genetic neurodegenerative disorders diagnosed before birth. The convergence of early diagnosis, fetal intervention, and personalized genetic counseling will be central to optimizing care pathways and outcomes in the era of precision medicine. Although significant challenges remain, the translation of fetal therapy into routine clinical practice is approaching feasibility. Future clinical trials, anchored in definitive prenatal diagnosis, will be essential, with benefits potentially outweighing the inherent procedural risks.

摘要

脊髓性肌萎缩症(SMA)是一种严重的常染色体隐性神经肌肉疾病,是婴儿死亡的主要遗传原因。疾病修正疗法的进展显著改善了早期治疗的效果,凸显了及时诊断的重要性。随着产前基因筛查和高分辨率分子诊断方法的日益普及,早期检测以及潜在的子宫内干预机会正在迅速增加。这篇叙述性综述综合了目前关于SMA产前管理的证据,重点关注诊断策略、胎儿基因检测的临床应用以及胎儿治疗的新兴潜力。我们探讨了侵入性和非侵入性诊断方法,并评估了实验性产前治疗方式,同时认真考虑了相关的伦理、监管和经济因素。随着该领域的发展,将子宫内策略纳入临床护理可能会重塑围产期医学,并为产前诊断的遗传性神经退行性疾病带来变革潜力。早期诊断、胎儿干预和个性化遗传咨询的融合对于优化精准医学时代的护理路径和结果至关重要。尽管仍然存在重大挑战,但将胎儿治疗转化为常规临床实践已接近可行。以明确的产前诊断为基础的未来临床试验将至关重要,其益处可能超过固有的操作风险。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a80f/12383597/32468f744364/biomedicines-13-01796-g001.jpg

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索