Article
Comprehensive description of CFTR genotypes and ultrasound patterns in 694 cases of fetal bowel anomalies: a revised strategy.
Human genetics - 1 Apr 2011
de Becdelièvre Alix, Costa Catherine, Jouannic Jean-Marie, LeFloch Annick, Giurgea Irina, Martin Josiane, Médina Rachel, Boissier Brigitte, Gameiro Christine, Muller Françoise, Goossens Michel, Alberti Corinne, Girodon Emmanuelle
Abstract excerpt
Fetal bowel anomalies may reveal cystic fibrosis (CF) and the search for CF transmembrane conductance regulator (CFTR) gene mutations is part of the diagnostic investigations in such pregnancies, according to European recommendations. We report on our 18-year experience to document comprehensive CFTR genotypes and correlations with ultrasound patterns in a series of 694 cases of fetal bowel anomalies. CFTR gene...
Topics
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA Mutational Analysis
- Echogenic Bowel
- Female
- Gene Frequency
- Genotype
- Humans
- Infant, Newborn