Inherited protein C deficiency in pregnancy: a case report
10.3760/cma.j.cn113903-20220621-00653
- VernacularTitle:遗传性蛋白C缺陷症合并妊娠1例
- Author:
Qiumin LU
1
;
Chengyu YANG
;
Fang HE
Author Information
1. 广州医科大学附属第三医院产科（广东省产科重大疾病重点实验室），广州 510150
- Keywords:
Protein C deficiency;
Pregnancy complications;
Protein C;
Genetic variation;
Thrombophilia
- From:
Chinese Journal of Perinatal Medicine
2023;26(6):507-510
- CountryChina
- Language:Chinese
-
Abstract:
This 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.
