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.

@article{Muller2002PredictingTR,
  title={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.},
  author={Françoise Muller and Brigitte Simon-Bouy and Emanuelle Girodon and Nicole Monnier and Marie Claire Malinge and Jean Louis Serre},
  journal={American journal of medical genetics},
  year={2002},
  volume={110 2},
  pages={109-15}
}
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 when only one mutation is detected in the fetus. Fetal cells and/or parental blood… CONTINUE READING

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