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Life expectancy for individuals with cystic fibrosis (CF) has significantly increased during the last few decades, and subsequently, more women with CF are considering pregnancy. A detailed understanding of the management of pregnancy, specific pulmonary treatments, and necessary medications is essential to provide specialized care for women with CF. In this article, we present the physical and psychosocial aspects of care for pregnant women with CF and describe a case involving the planned pregnancy of a nulliparous woman with CF. We suggest vigilant monitoring for adequate nutrition, weight gain, and pulmonary function throughout pregnancy as implications for nursing care., (Copyright © 2019. Published by Elsevier Inc.)

Doubts have been raised about the value of DNA-based screening for low-prevalence monogenic conditions following reports of testing this approach using available electronic health record (EHR) as the sole phenotyping source. We hypothesized that a better model for EHR-focused examination of DNA-based screening is Cystic Fibrosis (CF) since the diagnosis is proactively sought within the healthcare system. We reviewed CFTR variants in 50,778 exomes. In 24 cases with bi-allelic pathogenic CFTR variants, there were 21 true-positives. We considered three cases "potential" false-positives due to limitations in available EHR phenotype data. This genomic screening exhibited a positive predictive value of 87.5%, negative predictive value of 99.9%, sensitivity of 95.5%, and a specificity of 99.9%. Despite EHR-based phenotyping limitations in three cases, the presence or absence of pathogenic CFTR variants has strong predictive value for CF diagnosis when EHR data is used as the sole phenotyping source. Accurate ascertainment of the predictive value of DNA-based screening requires condition-specific phenotyping beyond available EHR data., Competing Interests: Competing interestsThe authors declare no competing interests.