摘要本文报道了1例遗传性蛋白C缺陷症合并妊娠患者。该患者孕前有复发的深静脉血栓病史并经家系全外显子组测序发现 PROC基因变异，确诊为遗传性蛋白C缺陷症。孕期给予抗凝治疗及多学科综合管理，产前检查未见明显异常并于孕38周 +2阴道助产一男活婴，无产后出血，母儿预后好。此类患者的妊娠期管理以抗凝治疗为主，避免发生严重血栓事件，以保障母婴安全。

abstractsThis paper reported the management of a pregnant women with inherited protein C deficiency. The patient had a history of recurrent deep vein thrombosis before pregnancy and was diagnosed with inherited protein C deficiency by a pedigree-based whole exome sequencing, which revealed PROC gene mutations. She received anticoagulation treatment and was managed by a multidisciplinary team during pregnancy. No significant abnormalities were found during routine prenatal examination and a male infant was delivered vaginally at 38 +2 gestational weeks. No postpartum hemorrhage was reported and the maternal and infant outcomes were good. The management of such patients during pregnancy mainly relied on anticoagulation therapy to avoid serious thrombotic events and ensure the safety of the mothers and fetuses.