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Discipline Group Session

CLIN

DG08--Tools for Your Practice: Updates & Resources for Genetic Counseling for CF & CRMS/CFSPID

Thursday, September 26, 2024
7:45 AM – 9:45 AM ET
Location: 254 AB
Recorded Session
This discipline group will highlight updates in single gene non-invasive prenatal testing (NIPT) for CF, a new technology that allows screening for single gene conditions such as CF from a maternal blood sample during pregnancy. We will also review the IRT/DNA/SEQ algorithm utilized in New York state's newborn screening program for CF and experiences since implementation. Finally, we will discuss the recently published CRMS/CFSPID management guidelines and implications for clinicians.

Learning Objectives:

  • Discuss advances in single gene non-invasive prenatal testing (NIPT) for cystic fibrosis (CF).
  • Review New York State’s IRT/DNA/SEQ newborn screening algorithm for CF and discuss genetic counselor access and services for infants with complex CFTR genotypes.
  • Describe the recently updated guidelines for the management of CFTR-Related Metabolic Syndrome (CRMS)/ Cystic Fibrosis Screen Positive Inconclusive Diagnosis (CFSPID) and practical applications of the guidelines for clinicians.