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  • Title: Carrier screening for cystic fibrosis.
    Author: Dungan JS.
    Journal: Obstet Gynecol Clin North Am; 2010 Mar; 37(1):47-59, Table of Contents. PubMed ID: 20494257.
    Abstract:
    Cystic fibrosis is the first genetic disorder for which universal screening of preconceptional or prenatal patients became a component of standard prenatal care. The molecular genetics and mutation profile of the CFTR gene are complex, with a wide range of phenotypic consequences. Carrier screening can facilitate risk assessment for prospective parents to have an affected offspring, although there remains a small residual risk for carrying a mutation even with a negative screening result. There are ethnic differences with respect to disease incidence and effectiveness of carrier testing, which may complicate counseling.
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