Objective When the fetal gallbladder is not seen at ultrasound (US) scan, to propose a diagnostic method of differentiating fetuses who are healthy or have minor anomalies from fetuses with severe anomalies requiring intensive management.
MethodWe present four clinical cases illustrating this variability, together with additional examinations: karyotyping, screening for cystic fibrosis mutations, amniotic fluid digestive enzyme activities.
ResultsThe four examples we present-biliary duct atresia, biliary agenesis, gallbladder reveal at birth, and cystic fibrosis-illustrate the difficulties of making both diagnosis and prognosis prenatally when the gallbladder is not visualized. Laboratory assays allowed prenatal management.
ConclusionFailure to visualize the gallbladder prenatally may indicate fetal diseases of highly variable prognosis, but may also sometimes be followed by postnatal visualization in a child free of any disease. Prenatal management could help in defining diagnosis and prognosis.