Nonvisualization of the fetal gallbladder by second‐trimester ultrasound scan: strategy of clinical management based on four examples

Abstract

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.

Nonvisualization of the Fetal Gallbladder: Can Levels of γ-Glutamyl Transpeptidase in Amniotic Fluid Predict Fetal Prognosisγ

“…In contrast to previous studies [6,11,22], we did not identify CF in our cohort. This may be explained by the high compliance of our study population to the recommendation to undergo preconception or first-trimester genetic screening tests, including the CFTR gene mutations among the tests recommended by the Israeli Genetic Association.…”

Magnetic resonance imaging of the fetal gallbladder and bile

“…With fetal MRI, visualisation of the gallbladder depends on the signal properties of gallbladder bile. In prenatal imaging, assessment of the gallbladder is important as its non-visualisation may indicate abnormalities ranging from gallbladder agenesis without serious clinical sequelae to biliary atresia, which carries a poor prognosis [4,5]. The MRI characteristics of fetal gallbladder bile are of particular interest in the light of reports on fetal gallstones and gallbladder sludge in the prenatal ultrasound literature [6][7][8].…”

Isolated Nonvisualization of the Fetal Gallbladder Should Be Considered for the Prenatal Diagnosis of Cystic Fibrosis

“…Isolated NVFGB, which has been reported in 0.1-7.1% of pregnancies [9][10][11], notably depending on gestational term at detection, is most often benign: the fetal gallbladder (FGB) may be present but not filled and visualized later, even after birth, or this pattern could correspond to benign gallbladder agenesia. NVFGB could also correspond to severe conditions such as biliary atresia or CF [8,[12][13][14]. However, it was rarely found as an isolated sign in CF fetuses.…”