Article
Predicting the risk of cystic fibrosis with abnormal ultrasound signs of fetal bowel: results of a French molecular collaborative study based on 641 prospective cases.
American journal of medical genetics - 15 Jun 2002
Muller F, Simon-Bouy B, Girodon E, Monnier N, Malinge M C, Serre J L
Abstract excerpt
Hyperechogenic fetal bowel is prenatally detected by ultrasound during the second trimester of pregnancy in 0.1-1.8% of fetuses. It has been described as a normal variant but has often been associated with severe diseases, notably cystic fibrosis (CF). The aim of our study was to determine the risk of CF in a prospective study of 641 fetuses with ultrasonographically abnormal fetal bowel and the residual risk...
Topics
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA
- DNA Mutational Analysis
- Fetus
- Gene Frequency
- Genotype
- Humans
- Infant, Newborn
- Intestines
- Mutation
- Phenotype
- Predictive Value of Tests
- Prognosis