Wu Xiaoxia, Liu Yang, Luo Caiqun, Chen Liyuan, Cao Xiushu, Wang Hui
Maternal-Fetal Medicine Center.
Medical Genetic Center, Shenzhen Maternity and Child Healthcare Hospital, Southern Medical University, Shenzhen, Guangdong Province, China.
Clin Dysmorphol. 2025 Oct 1;34(4):117-121. doi: 10.1097/MCD.0000000000000536. Epub 2025 Jul 7.
MAGED2 -related Bartter syndrome is a rare X-linked disorder characterized by severe fetal polyuria, polyhydramnios, preterm birth, and increased perinatal morbidity. This study evaluates the efficacy of amnioreduction in prolonging gestation and improving outcomes in affected pregnancies.
We analyzed three cases of severe polyhydramnios detected via prenatal ultrasound. Whole-exome sequencing (WES) was performed to identify causative mutations. Two cases underwent therapeutic amnioreduction, while the third received expectant management. Clinical outcomes, including gestational age at delivery and neonatal complications, were compared.
WES confirmed hemizygous MAGED2 mutations in all fetuses. The two cases treated with amnioreduction were delivered at 35 weeks 2 days and 37 weeks 1 day, respectively, with no severe neonatal complications. In contrast, the untreated case was delivered prematurely at 32 weeks and 6 days, resulting in transient brain damage requiring postnatal rehabilitation.
Amnioreduction mitigates polyhydramnios-driven preterm birth in MAGED2 -related Bartter syndrome, enabling safer gestational prolongation. Integration of WES for rapid genetic diagnosis and multidisciplinary care optimizes prenatal management. These findings support amnioreduction as a critical intervention for this high-risk population, emphasizing early genetic testing, and proactive fetal therapy.
与MAGED2相关的巴特综合征是一种罕见的X连锁疾病，其特征为严重的胎儿多尿、羊水过多、早产以及围产期发病率增加。本研究评估羊水减量术在延长孕周及改善受累妊娠结局方面的疗效。
我们分析了3例经产前超声检测出的严重羊水过多病例。进行全外显子组测序（WES）以鉴定致病突变。2例接受了治疗性羊水减量术，而第3例接受了期待治疗。比较了包括分娩孕周和新生儿并发症在内的临床结局。
WES证实所有胎儿均存在MAGED2半合子突变。接受羊水减量术治疗的2例分别在孕35周2天和37周1天分娩，无严重新生儿并发症。相比之下，未治疗的病例在孕32周6天早产，导致短暂性脑损伤，需要产后康复治疗。
羊水减量术可减轻与MAGED2相关的巴特综合征中由羊水过多导致的早产，实现更安全的孕周延长。整合WES进行快速基因诊断和多学科护理可优化产前管理。这些发现支持羊水减量术作为对这一高危人群的关键干预措施，强调早期基因检测和积极的胎儿治疗。
