Clinical outcomes after sonographic diagnosis of isolated non-visualization of fetal gallbladder
ZHANG Bo, YANG Tai-zhu, ZHU Qi, LUO Hong
Department of Ultrasound, West China Second Hospital, Sichuan University, Key Laboratory of Birth Defects and
Related Diseases of Women and Children, Ministry of Education, Chengdu 610041, China
摘要目的：探讨妊娠中期经超声诊断的孤立性胆囊未显示（Non-visualization of the fetal gallbladder，NVFGB）胎儿的临床特点及预后情况。方法：对2013年1月—2016年7月于我院行孕中期超声检查发现胎儿孤立性NVFGB的病例进行回顾性分析，并进行产后的追踪随访。结果：研究期间经超声诊断并成功随访胎儿NVFGB共37例，其中9例合并其他系统、结构畸形和（或）染色体异常。28例孤立性NVFGB中，25例活产，其中1例患儿预后不良（甲状腺缺如），余24例未见异常（随访时间3~42月），未发现胆道闭锁病例。活产的孤立性NVFGB胎儿中，17例于妊娠后期或产后超声随访胆囊最终显示。结论：超声检查是胎儿NVFGB产前发现及随访观察的有效方法。若为孤立性，总体预后较好。NVFGB的产前诊断需结合多次连续超声扫查、胎儿染色体核型分析、羊水生化检测及父母基因筛查。
Abstract：Objective: To determine the association of isolated non-visualization of fetal gallbladder(NVFGB) in the second-trimester ultrasound examination with perinatal outcomes. Methods: Clinical data of fetuses with isolated NVFGB diagnosed in our hospital were retrospectively analyzed from January 2013 to July 2016. Postnatal follow-up was also conducted, and outcomes of interest were emphatically observed. Results: During the study period, totally 37 fetuses were successfully followed up, nine of which had additional anomalies and(or) abnormal karyotypes. In three of the 28 isolated cases, the pregnancy was terminated. The remaining 25 fetuses were delivered, 24 were normal, while 1 had adverse outcomes: thyroid aplasia, no cases of biliary atresia were found. In 17 of the 25 isolated fetuses delivered, the gallbladder was eventually seen in follow-up sonograms later in gestation or on neonatal ultrasound. Conclusion: Ultrasonography is an effective method for prenatal diagnosis and follow-up observation of NVFGB. When it is isolated, the outcome is good. Evaluation of NVFGB should include repeated ultrasound scans, amniocentesis for karyotype and biochemical test, as well as parental genetic screening.
张 波，杨太珠，朱 琦，罗 红. 超声诊断的胎儿孤立性胆囊未显示的临床预后[J]. 中国临床医学影像杂志, 2018, 29(2): 109-111.
ZHANG Bo, YANG Tai-zhu, ZHU Qi, LUO Hong. Clinical outcomes after sonographic diagnosis of isolated non-visualization of fetal gallbladder. JOURNAL OF CHINA MEDICAL IMAGING, 2018, 29(2): 109-111.
[1]Blazer S, Zimmer EZ, Bronshtein M. Nonvisualization of the fetal gallbladder in early pregnancy: comparison with clinical outcome[J]. Radiology, 2002, 224(2): 379-382.
[2]Shen O, Rabinowitz R, Yagel S, et al. Absent gallbladder on fetal ultrasound: prenatal findings and postnatal outcome[J]. Ultrasound Obstet Gynecol, 2011, 37(6): 673-677.
[3]Moon MH, Cho JY, Kim JH, et al. In utero development of the fetal gallbladder in the Korean population[J]. Korean J Radiol, 2008, 9(1): 54-58.
[4]朱莉，吕国荣，苏珊珊. 三维超声计算机辅助虚拟脏器分析技术评价胎儿胆囊发育[J]. 中国医学影像技术，2013，29（11）：1871-1874.
[5]俞璐燕，胡波，张韩珉，等. 产前超声检查胆囊不可见胎儿15例随访观察[J]. 中国计划生育学杂志，2015，23（9）：626-628.
[6]Ochshorn Y, Rosner G, Barel D, et al. Clinical evaluation of isolated nonvisualized fetal gallbladder[J]. Prenat Diagn, 2007, 27(8): 699-703.
[7]Mittal A, Singla S, Singal R, et al. Gallbladder agenesis with common bile duct stone—a rare case with a brief review of the literature[J]. Turk J Gastroenterol, 2011, 22(2): 216-218.
[8]Malde S. Gallbladder agenesis diagnosed intra-operatively: a case report[J]. J Med Case Rep, 2010, 4: 285.
[9]Boughanim M, Benachi A, Dreux S, et al. Nonvisualization of the fetal gallbladder by second-trimester ultrasound scan: strategy of clinical management based on four examples[J]. Prenat Diagn, 2008, 28(1): 46-48.
[10]Ben-Ami M, Perlitz Y, Shalev S, et al. Prenatal diagnosis of extrahepatic biliary duct atresia[J]. Prenat Diagn, 2002, 22(7): 583-585.
[11]Dugueperoux I, Scotet V, Audrezet MP, et al. Nonvisualization of fetal gallbladder increases the risk of cystic fibrosis[J]. Prenat Diagn, 2012, 32(1): 21-28.
[12]Liu Y, Wang L, Tian X, et al. Characterization of gene mutations and phenotypes of cystic fibrosis in Chinese patients[J]. Respirology, 2015, 20(2): 312-318.
