目的 探讨胎儿水肿的鉴别诊断和新生儿期先天性甲状腺功能减低症的罕见表现。方法 回顾性分析1例 因胎儿水肿导致产时窒息和呼吸衰竭，最终诊断为先天性甲状腺功能减低症的新生儿病例的临床资料，并复习相关文献。 结果 患儿女，维吾尔族，胎龄38+5周，因宫内窘迫剖宫产，出生后发现全身性皮下水肿伴青紫和呼吸困难。予气管插管 呼吸机辅助通气；日龄1 d甲状腺功能测定发现血清促甲状腺激素?>?100 mU/L，游离甲状腺素6.56 pmol/L；超声提示甲状 腺未发育。应用左旋甲状腺素片替代治疗后临床症状好转，日龄8 d撤离呼吸机。根据临床和实验室监测调整用药剂量， 于日龄18 d时带药出院门诊随访。 结论 先天性甲状腺功能减低症可成为胎儿水肿的病因，应注意鉴别诊断。

 Objective To explore the differential diagnosis of hydrops fetalis and the rare presentations of neonatal congenital hypothyroidism. Methods The data of one congenital hypothyroidism diagnosed neonate with hydrops fetalis leading to birth asphyxia and respiratory failure were retrospectively analyzed. The relevant literatures were reviewed. Results A Uyghur female infant by cesarean delivery at gestational age of 38+5 week for intrauterine distress, presented general edema with cyanosis and dyspnea after birth. Trachea cannula was used to assist ventilation. At one-day old, the thyroid function examination showed that the serum thyroid stimulating hormone was >100 mU/L and the free thyroid was 6.56 pmol/L. Moreover, ultrasonographic examination indicated the thyroid aplasia. The clinical symptoms were improved after the treatment with the levothyroxine tablets replacement, and breathing machine was removed at 8-day old. The dosage of drug was adjusted by clinical manifestation and laboratory monitoring. The patient was discharged at 18-day old with the medicine and was followedup. Conclusions Congenital hypothyroidism can be the pathogenesis of hydrops fetalis and its differential diagnosis should be paid attention.