Publications by authors named "Colleen F Stevens"
Background And Objectives: Spinal muscular atrophy (SMA) was added to the Recommended Uniform Screening Panel in July 2018 largely on the basis of the availability and efficacy of newly approved disease-modifying therapies. New York State (NYS) started universal newborn screening for SMA in October 2018. The authors report the findings from the first 3 years of screening.
View Article and Find Full Text PDFNewborn screening (NBS) for Cystic Fibrosis (CF) is associated with improved outcomes. All US states screen for CF; however, CF NBS algorithms have high false positive (FP) rates. In New York State (NYS), the positive predictive value of CF NBS improved from 3.
View Article and Find Full Text PDFReal-time quantitative PCR (qPCR) using RPPH1 as a reference gene is a standard method for assessment and validation of genomic copy number variations. However, variants in the reference amplicon may cause errors, which was investigated herein. While conducting copy number variation validations for birth defects research studies, 13 of 1634 specimens with multiple loci that appeared to be present as three copies were unexpectedly detected.
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- SMA was added to the Recommended Uniform Screening Panel in July 2018 after the first effective treatment became available, and the screening began in New York State on October 1, 2018.
- Screening was performed on 225,093 infants using a DNA test targeting the SMN1 gene deletion, leading to 8 positive cases confirmed as homozygous for the deletion.
- The New York State incidence of SMA is lower than expected, likely due to improved awareness and access to genetic testing and counseling, indicating the importance of early diagnosis for effective treatment options.
PurposeTo determine feasibility and utility of newborn screening for spinal muscular atrophy (SMA) in New York State.MethodsWe validated a multiplex TaqMan real-time quantitative polymerase chain reaction assay using dried blood spots for SMA. From January 2016 to January 2017, we offered, consented, and screened 3,826 newborns at three hospitals in New York City and tested newborns for the deletion in exon 7 of SMN1.
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- The study included 439 infants from 2002 to 2012 who were tested for CF, revealing that the 139-VA could reliably identify more mutations compared to other existing tests, particularly benefiting Black infants with a noticeable increase in sensitivity.
- Overall, the 139-VA demonstrated higher clinical sensitivity than other testing panels, making it a strong candidate for use in newborn screening and CF research.