Pregnancy and delivery in a woman with spinal muscular atrophy type III.

• Tác giả: Duan Ju, Xiaozhou Li, Fanrong Meng, Yunfang Shi, Xiuyan Wang, Linwei Zhao, Xinghong Zhou
• Ngôn ngữ: eng
• Thông tin xuất bản: Ireland : European journal of obstetrics, gynecology, and reproductive biology , 2025
• Bộ sưu tập: NCBI
• ID: 643484

Tóm tắt

OBJECTIVES: To investigate the perinatal management of a spinal muscular atrophy (SMA) patient during pregnancy. METHODS: A pregnant woman with SMA type III was admitted to Tianjin Medical University General Hospital for prenatal diagnosis and perinatal care. RESULTS: The pregnant woman was diagnosed with SMA type III based on clinical observations and genetic tests. The results of amniocentesis indicated that the fetus was a carrier of SMA. An elective cesarean section was arranged at 35 CONCLUSIONS: Genetically confirmed SMA patients in China remain scarce, and those with SMA who are capable of conceiving are even rarer. It is recommended that Patients with SMA undergo prenatal diagnosis and receive pregnancy check-ups and deliveries at a tertiary care hospital with an interdisciplinary medical team.