Obstetrics and Gynaecology Unit, University of Parma, Parma, Italy.
Maternité, Hôpital Necker-Enfants Malades, Assistance Publique, Hôpitaux de Paris, Université Paris Descartes, Paris, France.
Ultrasound Obstet Gynecol. 2019 Nov;54(5):582-588. doi: 10.1002/uog.20252.
To investigate the ultrasound characteristics and outcome of fetuses with non-visualization of the fetal gallbladder (NVFGB) followed in our tertiary university hospital, and to provide a comprehensive review of the literature on prenatal findings and outcome of NVFGB.
NVFGB was defined as non-visualization of the gallbladder on two targeted ultrasound examinations performed within a 1-week period. First, we reviewed the medical records of NVFGB cases managed in our center over a 9-year period. Then, we performed a systematic review of the literature to identify studies on NVFGB. The incidence of chromosomal anomalies, later visualization of the gallbladder, gallbladder agenesis, cystic fibrosis and biliary atresia was assessed in fetuses with isolated and non-isolated NVFGB. The role of hepatic enzyme measurements in the diagnosis of cystic fibrosis and biliary atresia in fetuses with NVFGB was also reviewed.
Sixteen cases of NVFGB were followed in our center, in 10 (62.5%) of which it was an isolated finding. The incidence of biliary atresia was 12.5% and that of gallbladder agenesis was 12.5%, while no case of cystic fibrosis was reported. The gallbladder was visualized later in pregnancy or postnatally in 43.8% and 25.0% of cases, respectively. A total of seven studies, including our cohort, involving a total of 280 NVFGB cases, met the inclusion criteria for the systematic review. Overall, 20.5% of fetuses had an associated ultrasound anomaly, and the incidence of chromosomal anomaly in this group was 20.4%. In cases with isolated NVFGB, the incidence of chromosomal anomaly was 1.9%. In fetuses with normal karyotype and isolated NVFGB, the gallbladder was later visualized in 70.4% of cases, while the incidence of gallbladder agenesis, cystic fibrosis and biliary atresia was 25.2%, 3.1% and 4.8%, respectively. In fetuses with non-isolated NVFGB, the incidence of cystic fibrosis and biliary atresia was 23.1% and 18.2%, respectively. The negative predictive value of amniotic fluid enzyme levels for the prediction of severe disease (including biliary atresia or cystic fibrosis) ranged between 94% and 100% when evaluated before 22 weeks' gestation, and dropped to 88% after 22 weeks.
In cases with persistent NVFGB, the risk of a severe postnatal condition should be considered. A detailed ultrasound scan should be offered and parents tested for cystic fibrosis gene mutation. An invasive procedure for karyotyping and measurement of liver enzyme concentrations before 22 weeks constitutes a reasonable work-up. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd.
研究我们的三级大学医院中胎儿胆囊未显影（NVFGB）的超声特征和结局，并对 NVFGB 的产前发现和结局进行全面的文献复习。
将在 1 周内进行的两次靶向超声检查中均未显示胆囊的情况定义为 NVFGB。首先，我们回顾了在我们中心管理的 NVFGB 病例的医疗记录。然后，我们对 NVFGB 的文献进行了系统评价，以确定研究 NVFGB 的研究。评估孤立性和非孤立性 NVFGB 胎儿中染色体异常、胆囊后期显影、胆囊缺如、囊性纤维化和胆道闭锁的发生率。还回顾了肝酶测量在 NVFGB 胎儿中诊断囊性纤维化和胆道闭锁的作用。
在我们的中心共随访了 16 例 NVFGB 病例，其中 10 例（62.5%）为孤立性发现。胆道闭锁的发生率为 12.5%，胆囊缺如的发生率为 12.5%，而未报告囊性纤维化病例。胆囊分别在妊娠后期或产后 43.8%和 25.0%的病例中显影。共有 7 项研究，包括我们的队列，共涉及 280 例 NVFGB 病例，符合系统评价的纳入标准。总体而言，20.5%的胎儿有超声异常，该组染色体异常的发生率为 20.4%。在孤立性 NVFGB 病例中，染色体异常的发生率为 1.9%。在核型正常的孤立性 NVFGB 胎儿中，70.4%的胎儿胆囊后期显影，而胆囊缺如、囊性纤维化和胆道闭锁的发生率分别为 25.2%、3.1%和 4.8%。在非孤立性 NVFGB 胎儿中，囊性纤维化和胆道闭锁的发生率分别为 23.1%和 18.2%。在 22 周前评估时，羊水酶水平的阴性预测值为 94%至 100%，可用于预测严重疾病（包括胆道闭锁或囊性纤维化），而在 22 周后，该值降至 88%。
在持续性 NVFGB 病例中，应考虑到严重的产后情况的风险。应提供详细的超声扫描，并对囊性纤维化基因突变进行检测。在 22 周前进行核型分析和肝酶浓度检测的侵袭性检查是合理的。版权所有 © 2019 ISUOG。由 John Wiley & Sons Ltd 出版。
