[1] Paik J.Risdiplam:A review in spinal muscular atrophy[J]. CNS Drugs, 2022, 36(4): 401-410. [2] Verhaart IEC, Robertson A, Wilson IJ, et al.Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy-A literature review[J]. Orphanet J Rare Dis, 2017, 12(1): 124. [3] Ross LF, Kwon JM.Spinal muscular atrophy: Past, present, and future[J]. Neoreviews, 2019, 20(8): e437-e451. [4] Behera B, Kumar A.Spinal muscular atrophy type 1 with exon 8 deletion and bilateral optic atrophy[J]. Indian Pediatr, 2020, 57(12): 1191. [5] 孙瑞红,蒋祝,邵彬彬,等. 三种脊髓性肌萎缩症携带者筛查方法的性能评估[J]. 南京医科大学学报(自然科学版),2023,43(10):1402-1406. [6] 马斌,郝胜菊,惠玲,等. 甘肃地区13 022例孕妇脊髓性肌萎缩症携带者筛查及产前诊断[J]. 中国优生与遗传杂志,2024,32(1):157-160. [7] 梁志钊,黄小玲,杨发达,等. 南海地区10 995例孕妇脊髓性肌萎缩症携带筛查及产前诊断[J]. 中国优生与遗传杂志,2024,32(1):183-187. [8] 刘翛然,武爽,韩锐. 乌鲁木齐地区育龄女性脊髓性肌萎缩症携带者筛查胚胎植入前诊断及产前诊断情况分析[J]. 中国妇幼保健,2024,39(3):417-421. [9] 周成,宋春林,黄湘,等. 广东佛山地区19 297名孕妇脊髓性肌萎缩症携带者筛查及产前诊断[J]. 中国优生与遗传杂志,2022,30(2):241-245. [10] 李秋丽,石海弘,孙淑湘,等. 江门地区14 378例育龄妇女的脊髓性肌萎缩症基因携带者筛查情况[J]. 中国优生与遗传杂志,2022,30(3):509-511. [11] 徐盈,黎昱,宋婷婷,等. 6 616例脊髓性肌萎缩症携带者筛查及高风险胎儿产前诊断分析[J]. 实用妇产科杂志,2020,36(1):42-47. [12] 张菁菁,王玉国,马定远,等. 江苏地区5 776例孕妇脊髓性肌萎缩症携带者筛查及产前诊断[J]. 现代妇产科进展,2021,30(6):434-437. [13] 陈丽平,何勇均,蔡燕,等. 南充地区脊髓性肌萎缩症携带者筛查及高风险胎儿产前诊断分析[J]. 川北医学院学报,2023,38(6):777-779,788. [14] 张庆娥,郑建丽,李敏,等. 盐城地区4 429例孕妇脊髓性肌萎缩症携带者筛查及产前诊断[J]. 重庆医学,2023,52(05):734-736,741. [15] Ogbonmide T, Rathore R, Rangrej SB, et al.Gene therapy for spinal muscular atrophy (SMA): A review of current challenges and safety considerations for onasemnogene abeparvovec (Zolgensma)[J]. Cureus, 2023 , 15(3): e36197. [16] 黄美欢,曹建国,韩春锡,等. 脊髓性肌萎缩症的诊断及多学科综合管理进展[J]. 中华物理医学与康复杂志,2020,42(7):665-670. [17] Prior TW.Carrier screening for spinal muscular atrophy[J]. Genet Med, 2008, 10(11): 840-842. [18] ACOG committee. ACOG committee opinion No 2009 432: Spinal muscular atrophy[J]. Obstet Gynecol , 2009, 113(5): 1194-1196. [19] 北京医学会医学遗传学分会,北京罕见病诊疗与保障学会. 脊髓性肌萎缩症遗传学诊断专家共识[J]. 中华医学杂志,2020,100(40):3130-3140. [20] 脊髓性肌萎缩症临床实践指南工作组. 脊髓性肌萎缩症临床实践指南[J]. 中国循证儿科杂志,2023,18(1):1-12. [21] 胡婷,郭君荣,刘珊玲等. 脊髓性肌萎缩症携带者筛查遗传咨询专家共识[J]. 中华医学遗传学杂志,2024,41(6):661-668. [22] Sun Y, Ma S, Xiao J, et al.Preconception or prenatal acceptance of SMN1 gene carrier screening and carrier rate of spinal muscular atrophy: A retrospective study in 18, 818 reproductive age women in Wuhan area of China[J]. J Assist Reprod Genet, 2024 , 41(1): 127-133. [23] Chen X, Sanchis-Juan A, French CE, et al.Spinal muscular atrophy diag-nosis and carrier screening from genome sequencing data[J]. Genet Med, 2020, 22(5): 945-953. [24] Xu Y, Song T, Wang X, et al.Copy number assessment of SMN1 based on real-time PCR with high-resolution melting: Fast and highly reliable testing[J]. Brain Dev, 2022, 44(7):462-468. [25] 中华医学神经病学分会,中华医学会神经病学分会神经遗传学组. 脊髓性肌萎缩症中国三级预防指南[J]. 中华神经科杂志,2023,56(5):476-484. |