Related Experiment Video
Updated: Aug 24, 2025
Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
Published on: August 25, 2014
California's experience with SMA newborn screening: A successful path to early intervention
Jamie Matteson1, Cindy H Wu1, Deepika Mathur1
1Genetic Disease Screening Program, California Department of Public Health, Richmond, CA, USA.
Insights
California
Area of Science:
- Genetics and Genomics
- Pediatric Neurology
- Public Health Screening
Background:
- California implemented universal spinal muscular atrophy (SMA) newborn screening in June 2020.
- This initiative aimed to detect SMA in newborns for early intervention.
Purpose of the Study:
- To evaluate the initial 18 months of California's SMA newborn screening program.
- To analyze assay methodology, screening timeliness, and clinical outcomes.
Main Methods:
- Multiplex real-time PCR on dried blood spots to detect SMN1 exon 7 deletions.
- Online data collection tool for tracking screening and follow-up milestones.
Main Results:
- Over 628,000 newborns screened, with 34 confirmed SMA cases.
- Median ages for referral, diagnosis, and treatment were 8, 12, and 33 days.
- 62% of infants received treatment before symptom onset.
Conclusions:
- SMA newborn screening is highly sensitive and specific, enabling early, effective treatment.
- While successful, further efforts are needed to expedite treatment, particularly for severe cases.
Background:
Universal spinal muscular atrophy (SMA) newborn screening was implemented in California on June 24, 2020.
Objective:
We describe California's experience with the first 18 months of SMA newborn screening, including our assay methodology, timeliness of screening and follow-up milestones, and clinical and epidemiological outcomes observed.
Methods:
Dried blood spots are screened for SMA using multiplex real time polymerase chain reaction (RT-PCR) to detect deletions of exon 7 in the survival of motor neuron 1 (SMN1) gene. Short-term follow-up data is collected from clinical staff via an online data collection tool.
Results:
In the first 18 months, 628,791 newborns from California's diverse population were tested for SMA. Thirty-four screened positive and were confirmed to have the disorder. Infants were referred, diagnosed, and treated at a median of 8, 12, and 33 days of life, respectively. Nearly all infants received the desired treatment modality, and 62% received treatment while still asymptomatic.
Conclusions:
SMA newborn screening is a highly sensitive and specific test which identifies infants with SMA early when treatment is most effective. Even with newborn screening's success in facilitating early intervention, there is still work to be done to expedite treatment, especially for infants with the most severe form of the disease.
More Related Videos
14:43A Novel Method for Involving Women of Color at High Risk for Preterm Birth in Research Priority Setting
Published on: January 12, 2018
05:04A Common Marmoset Model of Mother-Infant Intervention for Breastfeeding Disorders in the Presence of Paternal Inhibition and Maternal Neglect
Published on: September 22, 2023
