Prenatal Ultrasound Suspicion of Cystic Fibrosis in a Multiethnic Population: Is Extensive CFTR Genotyping Needed?

Genes (Basel). 2021 Apr 29;12(5):670. doi: 10.3390/genes12050670.


In families without a Cystic Fibrosis (CF) history, fetal ultrasound bowel abnormalities can unexpectedly reveal the disease. Isolated or in association, the signs can be fetal bowel hyperechogenicity, intestinal loop dilatation and non-visualization of fetal gallbladder. In these cases, search for CF transmembrane conductance regulator (CFTR) gene mutations is part of the recommended diagnostic practices, with a search for frequent mutations according to ethnicity, and, in case of the triad of signs, with an exhaustive study of the gene. However, the molecular diagnosis remains a challenge in populations without well-known frequent pathogenic variants. We present a multiethnic cohort of 108 pregnancies with fetal bowel abnormalities in which the parents benefited from an exhaustive study of the CFTR gene. We describe the new homozygous p.Cys1410* mutation in a fetus of African origin. We did not observe the most frequent p.Phe508del mutation in our cohort but evidenced variants undetected by our frequent mutations kit. Thanks to the progress of sequencing techniques and despite the difficulties of interpretation occasionally encountered, we discuss the need to carry out a comprehensive CFTR study in all patients in case of fetal bowel abnormalities.

Keywords: Africa; CFTR; Cystic Fibrosis (CF); echogenic bowel; mutation; non-Caucasian; non-visualization of fetal gallbladder (NVFGB); prenatal.

Publication types

  • Evaluation Study

MeSH terms

  • Cystic Fibrosis / complications
  • Cystic Fibrosis / diagnostic imaging*
  • Cystic Fibrosis / ethnology
  • Cystic Fibrosis / genetics
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics
  • Echogenic Bowel / diagnostic imaging*
  • Echogenic Bowel / etiology
  • Echogenic Bowel / genetics
  • Ethnicity / genetics
  • Female
  • Gene Frequency
  • Genetic Testing / methods
  • Genetic Testing / standards*
  • Humans
  • Predictive Value of Tests
  • Pregnancy
  • Ultrasonography, Prenatal / methods
  • Ultrasonography, Prenatal / standards*


  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator