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