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DOI 10.1016/j.ejogrb.2025.01.037

Медицинская библиотека · European journal of obstetrics, gynecology, and reproductive biology · 2025

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

Shi Yunfang, Zhao Linwei, Meng Fanrong, Ju Duan, Wang Xiuyan, Zhou Xinghong, Li Xiaozhou

Клинический случайСтатьяПеревод в очереди

Аннотация

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+3 weeks. Throughout the follow-up period, the patient's SMA symptoms essentially reverted to their pregestational level without any significant exacerbation.

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.

Для цитирования: Shi Yunfang, Zhao Linwei, Meng Fanrong, Ju Duan, Wang Xiuyan, Zhou Xinghong, Li Xiaozhou. Pregnancy and delivery in a woman with spinal muscular atrophy type III.. European journal of obstetrics, gynecology, and reproductive biology. 2025. DOI: 10.1016/j.ejogrb.2025.01.037.

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