Nonvisualization of the Fetal Gallbladder: A Portuguese Case Series From a Tertiary Medical Center

Abstract

The nonvisualization of the fetal gallbladder (NVFGB) is a rare finding, occurring in approximately 0.1% of pregnancies. The NVFGB may be classified as either isolated or nonisolated, depending on whether it occurs in conjunction with additional anomalies. A retrospective study, conducted from January 2016 to May 2022 was designed to evaluate the clinical features, management and prognosis of NVFGB. Thirteen cases were referred to the prenatal diagnostic center. The cases were classified as two that were isolated and 11 were nonisolated. In isolated cases, chromosomal analysis and genetic testing for common CFTR (cystic fibrosis transmembrane conductance regulator) mutations yielded normal results, and isolated gallbladder agenesis was confirmed postnatally. In the nonisolated group, two cases were diagnosed with cystic fibrosis (CF) and one with Williams syndrome. Of the 11 nonisolated cases, ten resulted in termination of pregnancy (TOP), while in one case, the gallbladder was observed at 24-week gestation. Prenatal management of NVFGB remains a significant challenge. Its prognosis is closely related to the presence of other abnormalities. CF plays a significant role when gastrointestinal anomalies are detected. When isolated, once CF and chromosomal abnormalities are excluded, NVFGB is generally considered a benign condition.