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Obstet Gynecol Clin North Am. 2010 Mar;37(1):47-59, Table of Contents. doi: 10.1016/j.ogc.2010.02.002.

Carrier screening for cystic fibrosis.

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Division of Clinical Genetics, Department of Obstetrics & Gynecology, Northwestern University Feinberg School of Medicine, 250 East Superior Street, 05-2168, Chicago, IL 60611, USA.


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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