Article

New York Cystic Fibrosis Newborn Screening Consortium Quality Improvement: Focus on Parent and Pediatrician Education and Develop a Statewide Standard of Care for CF-Related Metabolic Syndrome infants.

2023-08-08

Abstract excerpt

<h4>Background: </h4> CFTR-Related Metabolic Syndrome/ Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CRMS/CFSPID) is the diagnosis in infants who have a positive Cystic Fibrosis (CF) newborn screen (NBS), 2 CF-causing mutations, and borderline or normal sweat test. NY State implemented a new CF NBS algorithm (IRT-DNA-SEQ) in December 2017 with significant improvement in positive predictive value. This a...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: e166b147-8703-5200-9e9a-f81299f65d0a
DOI: 10.22541/au.169147817.79160723/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

New York Cystic Fibrosis Newborn Screening Consortium Quality Improvement: Focus on Parent and Pediatrician Education and Develop a Statewide Standard of Care for CF-Related Metabolic Syndrome infants.DOI 10.22541/au.169147817.79160723/v1Read

Genetic counseling access and service delivery in New York State is variable for parents of infants with complex CFTR genotypes conferring uncertain phenotypes.Semantic proximity Read

Outcomes of early repeat sweat testing in infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome (CRMS)/CF screen-positive, inconclusive diagnosis (CFSPID)Semantic proximity Read

Phenotype of children with inconclusive cystic fibrosis diagnosis after newborn screening.Semantic proximity Read

Outcomes of early repeat sweat testing in infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome/CF screen-positive, inconclusive diagnosis.Semantic proximity Read

Refining the continuum of CFTR-associated disorders in the era of newborn screening.Semantic proximity Read

Updated guidance on the management of children with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome/cystic fibrosis screen positive, inconclusive diagnosis (CRMS/CFSPID)Semantic proximity Read

Detection of disease-causing CFTR variants in state newborn screening programs.Semantic proximity Read

REFINEMENT OF NEWBORN SCREENING FOR CYSTIC FIBROSIS WITH NEXT GENERATION SEQUENCINGSemantic proximity Read

Long-term Outcomes of Pediatric CFSPID: A 15-Year Clinical and Genomic Study Across Newborn Screening Cystic Fibrosis Units.Semantic proximity Read

Refinement of newborn screening for cystic fibrosis with next generation sequencing.Semantic proximity Read

Outcomes of infants born during the first 9 years of CF newborn screening in the United States: successes and the need for improvementSemantic proximity Read

Optimization of the French cystic fibrosis newborn screening programme by a centralized tracking process.Semantic proximity Read