Update on population-based preconception and prenatal cystic fibrosis carrier screening

Implementation of population-based cystic fibrosis (CF) carrier screening for all preconception and prenatal patients has encountered numerous challenges. Continuing education of the practitioner and patient is critical for ensuring the successful implementation of CF population-based carrier screening as well as other anticipated population-based molecular screening tests resulting from the completion of the Human Genome Project. To assist the practitioner, this article provides a brief review of cystic fibrosis genetics, the recommended screening guidelines and benefits of carrier screening, in addition to highlighting clinical dilemmas that have arisen since widespread CF carrier screening was initiated.