Huilin Sun, Jianli Zheng, Qing'e Zhang, Feifei Ying, Yadong Fu, Yongjuan Guan, Jing Wu, Yueyun Zhou, Jingjing Dong, Mengjun Xu, Fangfang Yang, Ning An, Ning Shi, Lu Zhang, Shu Zhu, Jianbing Liu, Min Li
Spinal muscular atrophy (SMA) is a neuromuscular disorder with an autosomal recessive inheritance pattern. Patients with severe symptoms may suffer respiratory failure, leading to death. The homozygous deletion of exon 7 in the SMN1 gene accounts for nearly 95% of all cases. Population carrier screening for SMA and prenatal diagnosis by amniocentesis for high-risk couples can assist in identifying the risk of fetal disease. We provided the SMA carrier screening process to 55,447 pregnant women in Yancheng from October 2020 to December 2022...
April 6, 2024: Biochemical Genetics