carrier screening for spinal muscular atrophy (sma) in 107,611 pregnant women during the period 2005–2009 a prospective population-based cohort study载体筛查脊髓性肌萎缩(sma)在107611年期间孕妇2005 - 2009未来的以人群为基础的队列研究.pdf

Carrier Screening for Spinal Muscular Atrophy (SMA) in 107,611 Pregnant Women during the Period 2005–2009: A Prospective Population-Based Cohort Study 1,2,3. 1,3. 2,4 5 6 7 Yi-Ning Su , Chia-Cheng Hung , Shin-Yu Lin , Fang-Yi Chen , Jimmy P. S. Chern , Chris Tsai , Tai- 7 8 9 4 4 Sheng Chang , Chih-Chao Yang , Hung Li , Hong-Nerng Ho , Chien-Nan Lee * 1 Graduate Institute of Clinical Genomics, National Taiwan University College of Medicine, Taipei, Taiwan, 2 Graduate Institute of Clinical Medicine, National Taiwan University College of Medicine, Taipei, Taiwan, 3 Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan, 4 Department of Obstetrics and Gynecology, National Taiwan University Hospital, Taipei, Taiwan, 5 Department of Obstetrics and Gynecology, Taiwan Adventist Hospital, Taipei, Taiwan, 6 Department of Family Medicine, Tao-Yuan General Hospital, Department of Health, Taoyuan, Taiwan, 7 Bionet Cooperation Inc., Taipei, Taiwan, 8 Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan, 9 Institute of Molecular Biology, Academia Sinica, Taipei, Taiwan Abstract Background: Spinal muscular atrophy (SMA) is the most common neuromuscular autosomal recessive disorder. The American College of Medical Genetics has recently recommended routine carrier screening for SMA because of the high carrier frequency (1 in 25–50) as well as the severity of that genetic disease. Large studies are needed to determine the feasibility, benefits, and costs of such a program. Methods and Findings: This is a prospective population-based