According to researchers, this case of a patient with spinal muscular atrophy (SMA) from Indonesia was the first to use a collaborative, multidisciplinary approach that involved obstetric, neurology, pediatric, and anesthesiology departments at a hospital.
The paper details the case of a 28-year-old woman pregnant with her second child who presented with muscle weakness. Genetic testing revealed an SMA type 3 diagnosis for the woman, with homozygous deletion of SMN1 exons 7 and 8.
According to the researchers, this case, which occurred in Indonesia, was the first to use a collaborative, multidisciplinary approach that involved obstetric, neurology, pediatric, and anesthesiology departments at the hospital.
“Pregnancy in SMA patients should be treated comprehensively and managed carefully. Maternal factors such as muscle weakness, deformities, and restrictive ventilatory pattern (lung capacity and compliance reductions), as well as social issues such as stigma and concerns from family and environment may arise,” wrote the researchers. “This pregnancy can be categorized as a high-risk pregnancy since it may lead to complications such as the possibility of preterm labor, miscarriage, intrauterine growth restriction, and maternal back pain due to increasing pressure from abdominal enlargement. These complicated conditions required good teamwork from a multidisciplinary team of health care professionals to maximize the outcomes, both for the mother and her baby.”
Without access to SMA treatments nusinersen or gene replacement therapy in the country, the patient did not receive treatment for her muscle weakness. Despite not receiving treatment, there were no adverse events during the elective cesarean section for either the patient or the baby, who was delivered healthy at 38 weeks gestation.
Following birth, the baby underwent genetic testing and was deemed a carrier, with retention of SMN1 exons 7 and 8. In addition, up until the publishing of this paper, there were no reports of the baby or the patient’s first child who was also deemed a carrier having any muscle weakness indicating SMA or any neuromuscular disorder.
“Dealing with pregnancy in a patient with SMA is not easy, clinically or socially. However, this report shows that a patient with SMA could have a normal reproductive life while having a marriage and healthy children,” explained the researchers. “Although this is not a common case that will be encountered in routine clinical practice, managing pregnancy in a patient with SMA should be performed collaboratively. By taking every maternal and fetal factor into account, a successful pregnancy and delivery in an SMA patient could be managed well.”
The researchers note that there have been several other reported cases of patients with SMA who are pregnant. Three studies were leveraged by the researchers as they prepared to manage the current case, one of which included 2 women with SMA type 2 who delivered healthy babies by vaginal delivery and cesarean section at 39 weeks. The second study followed a high-risk pregnancy in a 32-year-old patient with severe SMA type 2 who had a planned cesarean section at 28 weeks due to maternal and fetal prematurity, kyphoscoliosis, anticipated cephalopelvic disproportion, and primiparity. The third study covered the case of a patient with SMA type 3 who received a cesarean section at 32 weeks due to abdominal and back pain.
Based on these studies, the researchers tried to prevent premature birth and preserve pregnancy as long as possible, monitored discomfort due to the patient’s deformities, and monitored the baby for any signs of growth retardation.
Setyaningrum C, Harahap I, Nurputra D, Rachman I, Harahap N. Managing pregnancy in a spinal muscular atrophy type III patient in Indonesia: a case report. J Med Case Reports. Published online January 16, 2022. doi:10.1186/s13256-021-03226-1