Key Treatment

Newborn screening for cystic fibrosis occurs in some U.S. states and is associated with improved outcomes (Grosse et al., 2006; Southern et al., 2009) (SOR: B).

It is reasonable to offer CF carrier screening to women in the preconception or prenatal setting, regardless of race or ethnicity (ACOG, 2005) (SOR: C).

Consensus guidelines suggest sweat chloride testing or genetic testing for CFTR mutations for CF diagnosis in symptomatic individuals (GeneReviews, 2008) (SOR: C).

www.egappreviews.org/

Evaluation of Genomic Applications in Practice and Prevention; evidence-based guidelines for genomic applications. www.nchpeg.org/

National Coalition of Health Professional Education in Genetics, dedicated to educating health professionals about genetics and genomics. http://genes-r-us.uthscsa.edu/

National Newborn Screening and Genetics Resource Center; extensive information related to newborn screening, including links to the ACT sheets and general genetics resources. www.cdc.gov/genomics

Centers for Disease Control and Prevention Office of Public Health Genomics; extensive information on public health aspects of genetics and genomics, including family history; provides links to other CDC resources related to genomics.

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