Table 4.

Parents’ recommendations on improvements to the pilot newborn screening program for spinal muscular atrophy, with illustrative quotes.

Theme	Subtheme	Illustrative quotes
EMPOWERING PARENTS	Parent and family-centred information provision	I think just being told something, its difficult to retain. Some parents may not want to read information and its up to them, but I would have liked a reference material (father of presymptomatic newborn, 3 SMN2). Just after you've had a baby, you can't remember anything. I think something this important should be discussed in the antenatal period either in classes or by the GP (mother of presymptomatic newborn, 3 SMN2). I needed an understanding in my own language (mother of presymptomatic newborn, 2 SMN2).
	Optimising content of information provided	I needed information about testing for SMA specifically (mother of presymptomatic newborn, 3 SMN2). Its hard to get the correct amount of information but parents need to know what they are consenting to so you need to build that in (mother of presymptomatic newborn, 2 SMN2).
	Accessing written resources	I think if you had a written sheet, maybe it would stop families from going onto the internet and searching for answers from out of date sites (father of presymptomatic newborn, 2 SMN2). There is a lot of information to take in all at once - the genetics, the treatment etc. We need something that we can go back and refer to, perhaps in writing (mother of presymptomatic newborn, 2 SMN2).
EXPEDITING REFERRAL AND ACCESS TO SPECIALIST CENTRES	Utilizing the role of the specialist multidisciplinary service	We sat at home for several days with not much information and searched on the internet. Getting to see the specialist was a big relief as we could start doing something for our child (father of presymptomatic newborn, 2 SMN2). I really valued being referred to the neuromuscular team immediately. I could ask all my questions and because it's a rare disease, you really need the experts to guide you (mother of presymptomatic newborn, 3 SMN2).
OPTIMISING REPRODUCTIVE CHOICE	Accessing prenatal/preconception screening methods	It would have been better to know this [diagnosis] prior to conception or at least antenatally so we could adjust and plan for the future. In that respect, NBS does not go far enough (father of presymptomatic newborn, 2 SMN2). I think if we had known this sooner, this whole thing may have been avoided. Why can't you test sooner (father of symptomatic newborn, 2 SMN2)?