Hyperechogenic fetal bowel: a large French collaborative study of 682 cases

Am J Med Genet A. 2003 Sep 1;121A(3):209-13. doi: 10.1002/ajmg.a.20168.


Hyperechogenic fetal bowel is detected in 0.1-1.8% of pregnancies during the second or third trimester. This ultrasound sign is associated with cystic fibrosis or other conditions (e.g., chromosomal anomalies, viral infection) but no large-scale prospective studies have been conducted. This 1997-1998 multicenter study in 22 molecular biology laboratories identified 682 cases of hyperechogenic fetal bowel detected by routine ultrasound examination during the second (86%) or third trimester. The fetal bowel was considered hyperechogenic when its echogenicity was broadly similar to, or greater than, that of the surrounding bone. Karyotyping, screening for viral infection, and screening for cystic fibrosis mutations were performed in all cases. Pregnancy outcome and postnatal follow-up were obtained in 656 of the 682 cases (91%). In 447 cases (65.5%), a normal birth was observed. Multiple malformations were observed in 47 cases (6.9%), a significant chromosomal anomaly was noted in 24 (3.5%), cystic fibrosis in 20 (3%), and viral infection in 19 (2.8%). In utero unexplained fetal death occurred in 1.9% of cases, toxemia in 1.2%, IUGR in 4.1%, and premature birth in 6.2%. This study demonstrates that this ultrasound sign is potentially associated with medically significant outcomes. Having established that the bowel is hyperechogenic, recommended investigations should include a detailed scan with Doppler measurements, fetal karyotyping, cystic fibrosis screening, and infectious disease screening. After birth, newborns require pediatric examination because a surgical treatment may be necessary. This should be combined with clear counseling of the parents.

Publication types

  • Multicenter Study

MeSH terms

  • Chromosome Aberrations
  • Cystic Fibrosis / diagnosis
  • Cystic Fibrosis / genetics
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics
  • Female
  • Fetal Diseases / diagnostic imaging*
  • Fetal Growth Retardation
  • Gastrointestinal Diseases / diagnostic imaging*
  • Gastrointestinal Tract / abnormalities*
  • Gastrointestinal Tract / diagnostic imaging
  • Gastrointestinal Tract / embryology*
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Phenotype
  • Predictive Value of Tests
  • Pregnancy
  • Pregnancy Outcome
  • Pregnancy Trimester, Second
  • Prognosis
  • Prospective Studies
  • Risk Factors
  • Ultrasonography, Prenatal*


  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator