Karlla W. Brigatti, MS, CGC, on Accelerating SMA Diagnosis and Treatment

This interview was originally published on our sister site, NeurologyLive®.

"One of the things that we’re really interested in doing is getting those children with SMA to therapy as quickly as possible. Interestingly enough, parents knowing that they’re carriers is a big part of that process, where they already understand which options they have to treat a child who is ultimately diagnosed with that condition."

A leading genetic cause of infant mortality, spinal muscular atrophy (SMA) affects around 1 in 10,000 newborn children across the globe.¹ Because of frequently occurring ancestral haplotypes in Mennonite populations, the prevalence of carriers is estimated at 1 in 25 for that community.² Especially for infant children with type 1 SMA, beginning treatment with disease-modifying therapies may be critical for achieving the best outcomes. As such, the Clinic for Special Children has put in place carrier screening via a CLIA-certified laboratory. Mennonite couples who are considered at-risk often seek out single-gene noninvasive prenatal testing (NIPT) for SMA, and if they test positive, they may undergo planned induction at the thirty-seventh week of pregnancy in order to begin postnatal treatment immediately.

Karlla W. Brigatti, MS, CGC, the research director at the Clinic for Special Children, presented a study on genetic testing of Mennonite newborns at the 44th National Society of Genetic Counselors (NSGC) Annual Conference, held November 6-10, 2025, in Seattle, Washington.³ Over a 6-year timespan, 49 at-risk Mennonite newborns were tested for SMA, with 14 infants (29%) found to be affected. Diagnosis occurred at a mean age of 2 days. Patients born to parents who had not undergone carrier testing generally received therapy later than patients who were born to parents who were known carriers. Researchers noted that positive NIPT results corroborated by newborn testing and informed prenatal management strategies.

In an interview with CGTLive®, Brigatti, the study's lead author, outlined the Clinic’s efforts to improve outcomes for infants with SMA in the Amish and Mennonite communities. She explained how widespread carrier screening, single-gene NIPT during pregnancy, and coordinated prenatal and pediatric care could help identify high-risk infants earlier and initiate treatment on the day of birth. Above all, Brigatti emphasized the importance of early intervention, noting that SMA therapies are most effective when started immediately after delivery, and highlighted how these strategies can inform broader clinical practices around carrier screening and prenatal planning.

Click here to view more coverage of the 2025 NSGC Annual Conference.

REFERENCES
1. Tisdale S, Pellizzoni L. Disease mechanisms and therapeutic approaches in spinal muscular atrophy. J Neurosci. 2015;35(23):8691-8700. doi:10.1523/JNEUROSCI.0417-15.2015
2. Carson VJ, Puffenberger EG, Bowser LE, et al. Spinal muscular atrophy within Amish and Mennonite populations: Ancestral haplotypes and natural history. PLoS One. 2018;13(9):e0202104. Published 2018 Sep 6. doi:10.1371/journal.pone.0202104
3. Brigatti K, Strauss K, Albright A, et al. Time is motor neurons: Known parental carrier status for spinal muscular atrophy leads to faster postnatal treatment of affected infants. Presented at: 2025 NSGC Annual Conference; November 6-10; Seattle, Washington.