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Review article| Volume 23, ISSUE 2, P503-530, June 2003

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Prenatal screening for cystic fibrosis

      Cystic fibrosis is a serious, debilitating, recessively inherited disease for which no cure exists at present. Treatment is directed at slowing progression of the pathophysiologic process. Approximately 1 in every 2500 births to non-Hispanic whites in North America is affected [

      Haddow JE, Palomaki GE, editors. Population-based prenatal screening for cystic fibrosis via carrier testing. Available at http://www.fbr.org/projects/accecdc/acce_doc.html. Accessed April 30, 2003.

      ]. In the Ashkenazi Jewish population, birth prevalence is slightly higher (approximately 1 in 2300). Cystic fibrosis is less common in other racial/ethnic populations [

      Haddow JE, Palomaki GE, editors. Population-based prenatal screening for cystic fibrosis via carrier testing. Available at http://www.fbr.org/projects/accecdc/acce_doc.html. Accessed April 30, 2003.

      ]. After the discovery of the cystic fibrosis gene on the long arm of chromosome 7 in 1989, it became possible to consider screening of prospective parents as a first step in identifying affected fetuses [
      • Riordan J.R
      • Rommens J.M
      • Kerem B
      • Alon N
      • Rozmahel R
      • Grzelczak Z
      • et al.
      Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.
      ]. Initial enthusiasm for this possibility was dampened when more than 900 mutations of that gene were identified that were capable of causing disease [

      Tsui L-C. CFTR full mutation table. Available at: http://www.genet.sickkids.on.ca/cftr. Accessed April 30, 2003.

      ]. The feasibility pendulum swung in favor of screening with the realization that the 25 most common mutations accounted for at least 80% of carriers and 64% of affected individuals in the European white population [
      • Schöni M.H
      • Maisonneuve P
      • Schöni-Affloter F
      • Lowenfels A.B
      Cancer risk in patients with cystic fibrosis: the European data.
      ,

      NIH Consensus Development Program. Consensus statements: genetic testing for cystic fibrosis. Available at http://consensus.nih.gov/cons/106/106_intro.htm. Accessed March 25, 2002.

      ]. A revised estimate now indicates that these 25 mutations account for an even greater proportion of carriers (about 90%) [

      Haddow JE, Palomaki GE, editors. Population-based prenatal screening for cystic fibrosis via carrier testing. Available at http://www.fbr.org/projects/accecdc/acce_doc.html. Accessed April 30, 2003.

      ].
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