Pregnancy and childbirth with spinal muscular atrophy (clinical observation)
The article presents a personal observation of the course of pregnancy and childbirth in a patient with spinal muscular atrophy type III. The diagnosis was established at the age of 8 according to clinical data, confirmed by electroneuromyography and the results of a molecular genetic study. During pregnancy planning, a genetic prognosis was made for the birth of a child with SMA in this couple. Pregnancy occurred after further examination of the respiratory system, preparation of the endometrium with gestagen preparations and prevention of thromboembolic complications, proceeded with the phenomena of obstructive sleep apnea, impaired carbohydrate metabolism, cardiac arrhythmias and hypercoagulation. At 37 weeks, she was delivered by caesarean section due to the occurrence of preeclampsia.
Authors
- E.S. Mikhaylin (ORCID: https://orcid.org/0000-0001-5965-3020)
- O.N. Velmatova (ORCID: https://orcid.org/0009-0003-0383-8028)
- Lada Anatol’evna Ivanova (ORCID: https://orcid.org/0000-0002-3391-6694)
Institutions
- Princess Royal Maternity Hospital (GB)
- Saint-Petersburg Medico-Social Institute (RU)
- National Maternity Hospital (IE)
- Sobhraj Maternity Hospital (PK)
- North-Western State Medical University named after I.I. Mechnikov (RU)
Publication Details
- Journal
- Russian Journal of Human Reproduction
- Published
- 2025-11-10
- DOI
- https://doi.org/10.17116/repro20253105198
- Primary Topic
- Neurogenetic and Muscular Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00