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.

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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
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article

Pregnancy and childbirth with spinal muscular atrophy (clinical observation)

E.S. Mikhaylin, O.N. Velmatova, Lada Anatol’evna Ivanova
Russian Journal of Human Reproduction
Neurogenetic and Muscular Disorders Research
article

Pregnancy and childbirth with spinal muscular atrophy (clinical observation)

E.S. Mikhaylin, O.N. Velmatova, Lada Anatol’evna Ivanova
article en

Abstract

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.

Russian Journal of Human ReproductionVol. 31(5)
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)
Openalex Percentile: Top 54%
Neurogenetic and Muscular Disorders Research
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Pregnancy and childbirth with spinal muscular atrophy (clinical observation) — E.S. Mikhaylin, O.N. Velmatova, et al. · Russian Journal of Human Reproduction (2025) | TGRS Research Map | TGRS