To investigate the prenatal characteristics and clinical outcomes of fetuses with non-visualization of the fetal gallbladder (NVFGB) with ultrasound during the second trimester and to promote prenatal consultations based on data from the Chinese population. Women who underwent a standard anatomic scan in second-trimester and were suspected of having NVFGB at our center between January 2017 and February 2022 were included in this study. NVFGB was defined as the non-visualization of the gallbladder on two dedicated ultrasound scans conducted within one week. Each enrolled fetus underwent at least two follow-up ultrasound examinations during the second and third trimesters of pregnancy. Comprehensive clinical data were documented, encompassing prenatal ultrasound records, magnetic resonance imaging (MRI) findings, and chromosomal examinations/genetic test results. Neonatal ultrasound assessments were performed within the first month of birth. Surviving neonates were followed up for a minimum of 6 months postpartum. High-frequency ultrasound examinations or autopsies were performed to ascertain the presence of gallbladders in the miscarried or stillborn fetuses. Among 252 cases with NVFGB who met the inclusion criteria, 152 (60.32%) were isolated, and 100 (39.68%) exhibited additional structural abnormalities. Definite fetal chromosomal anomalies were detected in 10 cases. Normal gallbladders were visualized later in pregnancy and postnatally in 81.74% of the cases. The incidence rates were 1.98% and 0.79% for biliary atresia (BA) and cystic fibrosis, respectively, with an absence of 11.91%. In cases of postnatally confirmed gallbladder absence cases, commonly associated anomalies included central nervous system anomalies, anal atresia, a single umbilical artery, congenital heart disease, and renal abnormalities. Magnetic resonance imaging did not enhance gallbladder detection compared to ultrasound. Most cases of isolated NVFGB in the second trimester have good prognosis. Molecular diagnosis and scanning of combined malformations are helpful for the diagnosis of BA, CF, and genetic syndromes. Providing comprehensive prognostic information to parents and conducting a detailed fetal re-evaluation can alleviate parental anxiety and prevent unwarranted pregnancy termination.
Ding et al. (2026) studied this question.