Screening At-Risk Patients to Accelerate SMA Diagnosis and Treatment: Karlla W. Brigatti, MS, CGC

WATCH TIME: 5 minutes | Captions are auto-generated and may contain errors.

"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."

Spinal muscular atrophy (SMA) is a leading genetic cause of infant mortality, affecting approximately 1 in 10,000 newborns worldwide.¹ Among Mennonite populations, the carrier frequency is estimated at 1 in 25 because of common ancestral haplotypes.² Early initiation of disease-modifying therapies may be critical for optimal outcomes, particularly for infants with type 1 SMA. To account for this, the Clinic for Special Children has implemented carrier screening through a CLIA-certified laboratory. At-risk Mennonite couples frequently pursue single-gene noninvasive prenatal testing (NIPT) for SMA, and positive results may prompt planned induction at 37 weeks’ gestation to facilitate immediate postnatal treatment.

A study presented at the 44th National Society of Genetic Counselors (NSGC) Annual Conference, held November 6-10, 2025, in Seattle, Washington, by lead author Karlla W. Brigatti, MS, CGC, showed that 49 at-risk Mennonite newborns were tested for SMA over a 6-year period, with a mean diagnosis age of 2 days; 14 infants (29%) were affected.³ Findings showed that infants born to known carrier parents generally received therapy sooner than those born to parents who had not undergone carrier testing. Researchers noted that positive NIPT results corroborated by newborn testing and informed prenatal management strategies.

In an interview with our sister publication CGTLive®, Brigatti, research director at the Clinic for Special Children, 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 for more coverage of NSGC 2025.

REFERENCE
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.