目的 探讨胎儿胆囊未显示产前诊断结果及预后情况。 方法 收集2018年1月至12月于广东省妇幼保健院超声科行产前超声检查发现胎儿胆囊未显示的44例病例，根据超声结果分3组：孤立性胆囊未显示组、胆囊未显示合并微小异常组、胆囊未显示合并结构异常组，分析各组超声特征、产前遗传学检测、妊娠结局及预后情况。 结果 44例胆囊未显示病例成功随访40例，孤立性胆囊未显示组中7例活产儿胆囊出生后均可见，2例无创产前基因检测正常。胆囊未显示合并微小异常组中13例活产，1例患儿出生后诊断为胆道闭锁，余12例患儿出生后胆囊可见。2例患儿染色体核型异常，3例染色体核型正常。胆囊未显示合并结构异常组中5例活产儿胆囊出生后均可见，1例提示18三体，7例产前遗传学检测正常。 结论 超声检查是胎儿胆囊未显示产前检查及随访观察的有效手段。孤立性胆囊未显示、胆囊未显示合并微小异常预后良好，当超声怀疑宫内感染时应警惕胆道闭锁可能，胆囊未显示合并结构异常者非整倍体风险增加。
Objective To investigate the prenatal diagnosis and clinical evaluation of non-visualization of fetal gallbladder(NVFGB). Methods 44 fetuses with non-visualization of fetal gallbladder were analyzed in Guangdong Women and Children Hospitial from January 2018 to December 2018. According to the ultrasonographic features, all cases were divided into three groups. Group Ⅰcases with isolated NVFGB, Group Ⅱ NVFGB with minor abnormalities, Group Ⅲ NVFGB with structural abnormalities, analyzed the ultrasonographic characteristics, prenatal genetic testing, pregnancy outcomes and the prognosis. Results Totally 40 fetuses were successfully followed up. 7 of the 9 in Group Ⅰ delivered，their gallbladders were found in follow-up sonograms after birth, and noninvasive prenatal genetic diagnosis was normal in 2. 13 cases in Group Ⅱ delivered，1 fetus with biliary atresia was diagnosed postnatally. The gallbladders in 12 cases were found in follow-up sonograms after birth, and 5 cases were performed prenatal genetic diagnosis, 2 of 5 were abnormal and 3 were normal. 5 cases in Group Ⅲ delivered，8 cases were performed prenatal genetic diagnosis, 7 of 8 were normal, and the rest one was trisomy 18. Conclusions Ultrasound examination is an effective means for prenatal diagnosis and follow-up observation of NVFGB. The outcome of Group Ⅰ and Group Ⅱ is good. When intrauterine infection is suspected, we should beware of biliary atresia. There was an increased risk of aneuploidy in Group Ⅲ.
