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Hyperechogenic fetal bowel: counseling difficulties
D Marcus-Soekarman1, J Offermans, A M W Van den Ouweland
1Department of Human Genetics, Clinical Genetics, Academic Hospital Maastricht, PO Box 1475, 6201 BL Maastricht, The Netherlands. dominique.soekarman@gen.unimaas.nl
European Journal of Medical Genetics
|December 28, 2005
Summary
Echodense fetal bowel on ultrasound may require invasive testing. This case highlights a cystic fibrosis diagnosis confirmed late in pregnancy despite initial negative genetic results, emphasizing diagnostic challenges.
Area of Science:
- Medical Ultrasound
- Fetal Medicine
- Genetic Diagnosis
Background:
- Echodense fetal bowel on second-trimester ultrasound warrants investigation for underlying causes.
- Genetic testing, including for cystic fibrosis transmembrane regulator (CFTR) gene mutations, is crucial.
Observation:
- A fetus with echodense bowel initially showed only one CFTR mutation, with no family history of cystic fibrosis (CF).
- Reduced intestinal enzyme activity suggested obstruction, increasing suspicion for CF.
Findings:
- A second CFTR mutation was identified after the 24th gestational week, confirming a diagnosis of cystic fibrosis.
- This case underscores the complexity of diagnosing CF prenatally.
Implications:
- Challenges in prenatal genetic counseling for cystic fibrosis are presented.
- Late confirmation of CF diagnosis impacts management and parental counseling strategies.