ACOG and Universal Screening for Cystic Fibrosis – What You Need to Know

CLINICAL ACTIONS:

Genetic screening for Cystic Fibrosis (CF) has been recommended by ACOG and ACMG for over a decade.

  • Offer CF screening to all women of reproductive age, not just those in higher risk groups
  • Document previous CF screening results
    • Genetic testing does not need to be repeated in subsequent pregnancies if already on record
  • Expanded mutation panels beyond the ‘ACMG 23’ can be considered to increase sensitivity
    • DNA sequencing of the CFTR gene is not considered ‘appropriate’ for routine carrier screening and should be reserved for particular circumstances in conjunction with genetic counseling (see below in key points)
  • Refer for genetic counseling if both partners are CF carriers
    • CF is an autosomal recessive disorder and if both partners are affected, the risk to offspring is ¼ or 25%

SYNOPSIS:

Initially, prenatal screening for CF was limited to women from high risk groups, non-Hispanic whites and those of Ashkenazi Jewish background. However, as it becomes more difficult to identify specific racial groups and ethnicities, ACOG guidance is clear that all women of reproductive age should be screened to determine their carrier status. There are several genetic tests currently available that can sequence the entire CFTR gene, providing a clinical report for hundreds of CF disease causing mutations.  While Committee Opinion 691 still mentions the original ACMG 23 mutation panel,  expanded mutation panel analysis can be considered to help improve test sensitivity particularly among non-Caucasians.

KEY POINTS:

  • Full gene sequencing of the CFTR gene should be reserved for patients who meet the following criteria:
    • Personal history of CF
    • Family history of CF
    • Males with CBAVD
    • Newborns with positive newborn screening results when mutation panel testing is negative
  • Newborn screening for CF in newborns does not replace maternal screening
    • A negative newborn screen for CF cannot identify parental carriers
  • Diagnosis code: Z31.430

Learn More – Primary Sources:

ACOG Committee Opinion 690: Carrier Screening in the Age of Genomic Medicine

ACOG Committee Opinion 691: Carrier Screening for Genetic Conditions

Expanded Carrier Screening in Reproductive Medicine—Points to Consider: A Joint Statement of the ACMG, ACOG, NSGC, PQF, and SMFM

Locate a Genetic Counselor or Genetics Services:

Genetic Services Locator-ACMG

Genetic Services Locator-NSGC

Genetic Services Locator-CAGC

Locate an MFM Specialist:

Locate a Maternal Fetal Medicine Specialist: SMFM