Abstract

Objectives: Nonvisualization of the fetal gallbladder on prenatal ultrasound in the second trimester is uncommon. In most cases, the gallbladder will eventually be detected. Associations with cystic fibrosis, aneuploidy, agenesis of the gallbladder and biliary atresia have been reported. We present our experience and review the literature. Methods: Cases of nonvisualization of the gallbladder were confirmed by 2 examiners on at least 2 occasions and at least a week apart from 18–22 wks. Cases with no additional sonographic malformations were designated as isolated. Further evaluation included follow up scans and a meticulous search for fetal anomalies. All were offered genetic consultation. Cystic fibrosis testing and amniocentesis for karyotype and digestive enzymes in amniotic fluid were performed at the discretion of the referring physician. Results: A total of 20 cases of nonvisualization of the gallbladder were detected. Of these, 5 had additional malformations. In 4 of these cases the associated anomalies were severe, and fetuses were aborted due to aneuploidy or the severity of the associated anomalies. Of the remaining 15 cases, one was aborted due to cystic fibrosis. In all the other 14 cases development was normal with follow up of 4 months to 4 years. Conclusions: When prenatal nonvisualization of the fetal gallbladder is associated with other severe malformation, aneuploidy should be suspected. When isolated, if cystic fibrosis is ruled out, the outcome is good.

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