Spinal muscular atrophy (SMA) complicates pregnancy due to motor and respiratory impairment associated with the disease. A patient-led survey collected data from 30 pregnancies carried out by 22 women with SMA in France. The median vital capacity (VC) was 40% [25-81%] (median [quartiles]) of the theoretical value. Five mothers (23%) resorted to assisted reproductive technology (ART) for their parenthood, including one abroad and one who experienced ethical issues accessing ART given the severity of her respiratory impairment. The duration of mechanical ventilation was adjusted for six pregnancies (five patients). Almost all deliveries were by planned cesarean section. Seven deliveries (23%) took place without general anesthesia, and five infants (23%) were born prematurely between 30 and 35 weeks of amenorrhea. One patient underwent a brief postpartum tracheostomy (10 days, VC at 18% of theoretical), while another patient, not monitored at a referral center, retained a postpartum tracheostomy for nine months (VC at 40% of theoretical). No maternal deaths or permanent tracheostomies were observed, despite sometimes severe respiratory profiles and some follow-up outside of expert centers. These results confirm the feasibility of pregnancy with specialized support and call for better training of maternity medical and paramedical teams in the specific challenges faced by these patients, and for the integration of their expertise into care.
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