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  • Title: An update on cystic fibrosis screening.
    Author: Goetzinger KR, Cahill AG.
    Journal: Clin Lab Med; 2010 Sep; 30(3):533-43. PubMed ID: 20638569.
    Abstract:
    Cystic fibrosis (CF) is a monogenic, autosomal recessive disorder, which ultimately leads to multisystem organ dysfunction and a subsequent decrease in life expectancy. Because of the sizeable number of disease causing mutations (>1000) and expansive ethnic and racial distribution, CF has presented a challenge for prenatal diagnosis. This article aims to review the genetics of CF, its spectrum of genotypic-phenotypic variations, current prenatal carrier screening and diagnostic recommendations, ultrasonographic markers of CF, and available reproductive options for carrier couples.
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