Spinal muscular atrophy (SMA) management continues to evolve, driven by advances in carrier screening, prenatal diagnosis, newborn screening, and disease-modifying therapies. In this session, Professor Michelle Farrar will discuss the changing SMA landscape and the role of multidisciplinary collaboration between obstetricians, maternal–fetal medicine specialists, genetic counsellors, paediatric neurologists and families in supporting care from diagnosis through to treatment planning. The presentation will explore reproductive carrier screening, prenatal testing and referral pathways, informed reproductive decision-making, and the importance of timely diagnosis and intervention for affected infants.
Complementing the clinical perspective, a mother of twins will share her family’s experience following a prenatal diagnosis of SMA,. By reflecting on the support, , challenges and decisions from diagnosis through to life today with her one-year-old child living with SMA, she will provide clinicians with valuable insights into family needs and the support that can make a meaningful difference during critical moments of care and decision-making.
Speakers:
Prof Michelle Farrar | Paediatric Neurologist, Sydney Children’s Hospital
Mother of baby living with SMA
