Prenatal detection of cystic fibrosis by ultrasonography: a retrospective study of more than 346 000 pregnancies.

@article{Scotet2002PrenatalDO,
  title={Prenatal detection of cystic fibrosis by ultrasonography: a retrospective study of more than 346 000 pregnancies.},
  author={Virginie Scotet and Marc de Braekeleer and Marie Pierre Audr{\'e}zet and Isabelle Qu{\'e}r{\'e} and Bernard Mercier and Ingrid Dugu{\'e}p{\'e}roux and Joris Loup Andrieux and Martine Blayau and Claude F{\'e}rec},
  journal={Journal of medical genetics},
  year={2002},
  volume={39 6},
  pages={443-8}
}
Cystic fibrosis (CF) is the commonest severe autosomal recessive disease that affects children in white populations, with an incidence varying from 1/2500 to 1/5000 (carrier rate 1/25 to 1/35). The disease, which is characterised by chronic pulmonary obstruction and infections, and by digestive disorders such as pancreatic insufficiency, is caused by mutations in a gene which encodes a protein called CFTR (cystic fibrosis transmembrane conductance regulator). The cloning of the CFTR gene in… CONTINUE READING