Bing-Bo Zhou, Xue Chen, Chuan Zhang, Yu-Pei Wang, Pan-Pan Ma, Sheng-Ju Hao, Ling Hui, Yun-Fei Bai
OBJECTIVES: Spinal muscular atrophy (SMA) is an autosomal recessive disease that is one of the most common in childhood neuromuscular disorders. Our screenings are more meaningful programs in preventing birth defects, providing a significant resource for healthcare professionals, genetic counselors, and policymakers involved in designing strategies to prevent and manage SMA. METHOD: We screened 39,647 participants from 2020 to the present by quantitative real-time PCR, including 7,231 pre-pregnancy participants and 32,416 pregnancy participants, to detect the presence of SMN1 gene EX7 and EX8 deletion in the DNA samples provided by the subjects...
2024: Frontiers in Neurology