目的 探讨胎儿梅干腹综合征（prune belly syndrome，PBS）的病理特征及预后。 方法 回顾性分析厦门大学附属妇女儿童医院（厦门市妇幼保健院）2016年12月至2023年1月经病理解剖诊断为PBS的5例胎儿的临床资料。总结PBS胎儿的病理特征，并随访其母亲再次妊娠的情况。对数据资料采用描述性统计分析。 结果 ~ （1）5例胎儿（4例男性，1例女性）均诊断为巨膀胱或膀胱增大，膀胱中位最大径4.4 cm（1.6～8.9 cm）。其中2例合并肾脏发育不良，1例肾脏及输尿管缺如，1例合并双侧输尿管扩张、下尿道闭锁可能，1例合并脑室增宽、腹裂并内脏外翻及脊柱侧弯。引产胎龄为15周+6（12周+519周+4）。（2）5例均表现为腹壁膨隆、腹壁薄弱，伴膀胱过度扩张。其中2例合并腹壁局部缺损，1例伴膈肌发育不良，2例肾脏发育不良伴肾盂、输尿管扩张，2例尿道和肛门闭锁，1例皮肤水肿、腹腔大量积液，1例左肾及左输尿管缺如。镜下可见膀胱壁、腹壁及输尿管管壁内肌层厚薄不一，排列紊乱，部分区域肌层不完整，局部肌层缺如；肾小球、肾小管不同程度地减少，间质增生。免疫组织化学染色可见肌层薄弱、部分区域肌层断裂。（3）遗传学分析发现5例中的1例为DHCR7基因复合杂合变异（c.907G>A/c.461C>T），该变异为致病性。其余4例未见异常。（4）至2023年8月，除1例失访外，其余4例产妇随访了68个月（7～80个月）。3例引产后分别间隔16、24和19个月后再次成功妊娠，1例产妇分娩后尚处于恢复期，未再次妊娠。3例再次妊娠的子代均为足月出生，出生情况良好，随访至3岁，生长发育未见明显异常。 结论 胎儿PBS是一组罕见的以腹壁及膀胱平滑肌层发育不良为特征的先天性畸形，多见于男性。一般不影响母亲再次妊娠的结局。 Objective To investigate the clinicopathological features and prognosis of fetal prune belly syndrome (PBS). Methods This retrospective study collected and analyzed the clinical data of five fetuses with PBS diagnosed through a pathological autopsy in Women and Children's Hospital, School of Medicine, Xiamen University, from December 2016 to January 2023. The clinicopathological features of these cases were summarized, and the subsequent pregnancy outcomes in their mothers were followed up. A descriptive statistical method was used for data analysis. Results (1) Megabladder or enlarged bladder was observed in the five fetuses (four males and one female) with a maximum diameter of 4.4 cm (1.6-8.9 cm). Two fetuses were complicated by renal dysplasia, one by an absence of kidney, and ureters, one by bilateral ureterectasia and possible posterior urethral atresia, and one by the dilated cerebral ventricle, gastroschisis, exposed viscera, and scoliosis. The pregnancies were terminated at the gestational age of 15+6 weeks (12+5-19+4 weeks). (2) The five fetuses exhibited distended and thin abdominal walls with excessive dilation of the bladder. There were two cases with the partially absent abdominal wall, one with diaphragmatic dysplasia, two with renal dysplasia complicated by pyeloureterectasis, two with urethratresia and anal atresia, one with hydroderma and sever seroperitoneum, and one with absent left kidney and left ureter. The muscle layers of the bladder wall, abdominal wall, and ureter tube wall were of varying thickness, and the arrangement of muscle fibers was disordered with incomplete or absent muscle layers in some areas. Moreover, the glomeruli and renal tubules were reduced to varying degrees and fibrous interstitial hyperplasia was observed. Immunohistochemical staining revealed thin muscle layers and broken muscle layers in some regions. (3) One fetus carried a compound heterozygous variant of c.907G>A/c.461C>T in theDHCR7 gene, which was found to be a pathogenic variation. The other four cases had no obvious abnormalities. (4) By August 2023, apart from one case lost to follow-up, the other four were followed up for 68 months (7-80 months). Three women were successfully conceived again after an interval of 16, 24, and 19 months, respectively, and the other one did not conceive due to being in a recovery period. Three neonates were delivered at term in good condition, and no obvious abnormality in growth or development was reported during a three-year follow-up. Conclusions Fetal PBS is a rare congenital malformation characterized by dysplasia of the abdominal wall and the bladder smooth muscle layers. The subsequent pregnancy is generally not affected.
Clinicopathological features and prognosis of fetal prune belly syndrome: analysis of five cases
Objective To investigate the clinicopathological features and prognosis of fetal prune belly syndrome (PBS). Methods This retrospective study collected and analyzed the clinical data of five fetuses with PBS diagnosed through a pathological autopsy in Women and Children's Hospital, School of Medicine, Xiamen University, from December 2016 to January 2023. The clinicopathological features of these cases were summarized, and the subsequent pregnancy outcomes in their mothers were followed up. A descriptive statistical method was used for data analysis. Results (1) Megabladder or enlarged bladder was observed in the five fetuses (four males and one female) with a maximum diameter of 4.4 cm (1.6-8.9 cm). Two fetuses were complicated by renal dysplasia, one by an absence of kidney, and ureters, one by bilateral ureterectasia and possible posterior urethral atresia, and one by the dilated cerebral ventricle, gastroschisis, exposed viscera, and scoliosis. The pregnancies were terminated at the gestational age of 15+6 weeks (12+5-19+4 weeks). (2) The five fetuses exhibited distended and thin abdominal walls with excessive dilation of the bladder. There were two cases with the partially absent abdominal wall, one with diaphragmatic dysplasia, two with renal dysplasia complicated by pyeloureterectasis, two with urethratresia and anal atresia, one with hydroderma and sever seroperitoneum, and one with absent left kidney and left ureter. The muscle layers of the bladder wall, abdominal wall, and ureter tube wall were of varying thickness, and the arrangement of muscle fibers was disordered with incomplete or absent muscle layers in some areas. Moreover, the glomeruli and renal tubules were reduced to varying degrees and fibrous interstitial hyperplasia was observed. Immunohistochemical staining revealed thin muscle layers and broken muscle layers in some regions. (3) One fetus carried a compound heterozygous variant of c.907G>A/c.461C>T in theDHCR7 gene, which was found to be a pathogenic variation. The other four cases had no obvious abnormalities. (4) By August 2023, apart from one case lost to follow-up, the other four were followed up for 68 months (7-80 months). Three women were successfully conceived again after an interval of 16, 24, and 19 months, respectively, and the other one did not conceive due to being in a recovery period. Three neonates were delivered at term in good condition, and no obvious abnormality in growth or development was reported during a three-year follow-up. Conclusions Fetal PBS is a rare congenital malformation characterized by dysplasia of the abdominal wall and the bladder smooth muscle layers. The subsequent pregnancy is generally not affected.
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