Ochshorn Yifat, Rosner Guy, Barel Dalit, Bronshtein Moshe, Muller Francoise, Yaron Yuval
Lis Maternity hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Prenat Diagn. 2007 Aug;27(8):699-703. doi: 10.1002/pd.1757.
Isolated nonvisualized fetal gallbladder (INVFGB) is relatively rare. In most cases, the gallbladder will eventually be detected. In some cases however, INVFGB may be associated with serious abnormalities, cystic fibrosis (CF), aneuploidy, and agenesis of the gall bladder. We describe a clinical evaluation of prenatally diagnosed INVFGB.
Cases of nonvisualized gallbladder were first evaluated by serial scans. Cases with no additional malformations were designated as INVFGB, and were further evaluated by mutation analysis for CF, and amniocentesis for karyotype and microvillar membrane enzymes (MME).
A total of 22 cases of nonvisualized gallbladder were detected. Of these, 2 had additional malformations, and 3 were excluded because of incomplete evaluation. Of the remaining 17 cases, 3 (17.6%) had adverse outcomes: 1 case of CF, 1 case of 47,XXX, and 1 case of multiple congenital anomalies detected only postnatally. Abnormal levels of MMEs were detected in 3 cases, 1 of which was diagnosed with CF. In 2 cases, the gallbladder was not detected even after birth, but development is normal.
Evaluation of INVFGB should include genetic counselling, amniocentesis for karyotype and MME analysis, CFTR mutation analysis and repeated ultrasound scans.
孤立性未显示胎儿胆囊（INVFGB）相对罕见。在大多数情况下，胆囊最终会被检测到。然而，在某些情况下，INVFGB可能与严重异常、囊性纤维化（CF）、非整倍体及胆囊缺如有关。我们描述了对产前诊断的INVFGB的临床评估。
首先通过系列扫描对未显示胆囊的病例进行评估。无其他畸形的病例被认定为INVFGB，并进一步通过CF突变分析、羊水穿刺进行核型及微绒毛膜酶（MME）检测。
共检测到22例未显示胆囊的病例。其中，2例有其他畸形，3例因评估不完整被排除。其余17例中，3例（17.6%）出现不良结局：1例CF，1例47，XXX，1例仅在出生后检测到多发先天性畸形。3例检测到MME水平异常，其中1例诊断为CF。2例出生后仍未检测到胆囊，但发育正常。
对INVFGB的评估应包括遗传咨询、羊水穿刺进行核型及MME分析、CFTR突变分析及重复超声扫描。
