Publications by authors named "C N Fortner"
Characterization of 223 infants with CFTR-related metabolic syndrome/Cystic fibrosis screen positive, inconclusive diagnosis (CRMS/CFSPID) identified during the first three years of newborn screening via IRT-DNA-SEQ in New York State.
J Cyst Fibros
November 2024
Article Synopsis
- - New York State added CFTR gene sequencing to Cystic Fibrosis newborn screening in December 2017 to minimize false positives, leading to a higher identification of infants with inconclusive diagnoses, known as CRMS/CFSPID.
- - An analysis of 375 screen-positive newborns from 2017 to 2020 revealed that 59.5% were classified as CRMS/CFSPID, with a majority carrying CF-related variants, but all sweat chloride test results remained below the threshold for diagnosis over 1-3 years.
- - The findings suggest the need for updated clinical guidelines to better manage and support infants with CRMS/CFSPID, as no infants converted to a definitive CF diagnosis during
Background: New York State (NYS) utilizes a three-tiered cystic fibrosis newborn screening (CFNBS) algorithm that includes cystic fibrosis transmembrane conductance regulator (CFTR) gene sequencing. Infants with >1 CFTR variant of potential clinical relevance, including variants of uncertain significance or varying clinical consequence are referred for diagnostic evaluation at NYS cystic fibrosis (CF) Specialty Care Centers (SCCs).
Aims: As part of ongoing quality improvement efforts, demographic, screening, diagnostic, and clinical data were evaluated for 289 CFNBS-positive infants identified in NYS between December 2017 and November 2020 who did not meet diagnostic criteria for CF and were classified as either: CFTR-related metabolic syndrome/CF screen positive, inconclusive diagnosis (CRMS/CFSPID) or CF carriers.
Elexacaftor, tezacaftor, ivacaftor (ETI) have been associated with marked clinical improvements in adults with CF, which appears to be associated with increased fertility. However, maternal and fetal effects of therapy continued during pregnancy are not well understood. We collected maternal blood, infant blood, cord blood, and breast milk from 3 mother-infant pairs from women who elected to remain on ETI therapy while pregnant.
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