Clinical implications of genetic testing for congenital protein C deficiency in pregnancy.

IF 1.6 4区 医学 Q3 OBSTETRICS & GYNECOLOGY Journal of Obstetrics and Gynaecology Research Pub Date : 2024-11-05 DOI:10.1111/jog.16138
Tomoka Maehana, Toshiya Nishikubo, Ryo Maekawa, Taeko Hotta, Kyohei Nishikawa, Keita Waki, Yuko Makino, Juria Akasaka, Ryuji Kawaguchi, Fuminori Kimura
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Abstract

Congenital protein C (PC) deficiency is a mostly autosomal dominant hereditary thrombophilia associated with early onset arterial and venous thrombotic diseases. In newborns, PC deficiency results in severe complications such as cerebral hemorrhage, cerebral infarction, and purpura fulminans, leading to death in some cases. We report two cases of deep vein thrombosis diagnosed during pregnancy that prompted genetic testing confirming definitive congenital PC deficiency. One patient with deep vein thrombosis at 30 weeks of gestation underwent anticoagulation therapy with the placement of an inferior vena cava filter. Genetic testing revealed a missense mutation in the PC gene. Another patient developed deep vein thrombosis at 9 weeks of gestation and received anticoagulant therapy, revealing a frameshift mutation in the gene. Genetic testing confirming congenital PC deficiency facilitates tailored postpartum management, including long-term anticoagulation therapy, based on the mother's thrombosis risk. For newborns, early diagnosis allows timely preparation of treatments, such as freshly thawed frozen plasma or PC replacement therapy and ensures closer monitoring through imaging evaluations, enabling early intervention to decrease the severity of potential complications. Given its utility in managing maternal and neonatal outcomes, early genetic testing in suspected cases of maternal PC deficiency is crucial before delivery.

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妊娠先天性蛋白 C 缺乏症基因检测的临床意义。
先天性蛋白 C(PC)缺乏症主要是一种常染色体显性遗传性血栓性疾病,与早发性动脉和静脉血栓性疾病有关。在新生儿中,PC 缺乏症会导致严重的并发症,如脑出血、脑梗塞和紫癜,在某些情况下会导致死亡。我们报告了两例在怀孕期间被诊断为深静脉血栓形成的病例,这两例病例通过基因检测确诊为先天性 PC 缺乏症。其中一名患者在妊娠 30 周时出现深静脉血栓,在接受抗凝治疗的同时,植入了下腔静脉过滤器。基因检测发现该患者的 PC 基因存在错义突变。另一名患者在妊娠 9 周时出现深静脉血栓,接受了抗凝治疗,结果发现该基因存在框移突变。通过基因检测确诊先天性 PC 缺乏症后,可根据母亲的血栓形成风险,对其进行量身定制的产后管理,包括长期抗凝治疗。对于新生儿来说,早期诊断有助于及时准备治疗,如新鲜解冻的冰冻血浆或 PC 替代疗法,并确保通过影像学评估进行更密切的监测,从而进行早期干预,降低潜在并发症的严重性。鉴于 PC 缺乏症在控制孕产妇和新生儿预后方面的作用,在分娩前对疑似 PC 缺乏症孕产妇进行早期基因检测至关重要。
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来源期刊
CiteScore
3.10
自引率
0.00%
发文量
376
审稿时长
3-6 weeks
期刊介绍: The Journal of Obstetrics and Gynaecology Research is the official Journal of the Asia and Oceania Federation of Obstetrics and Gynecology and of the Japan Society of Obstetrics and Gynecology, and aims to provide a medium for the publication of articles in the fields of obstetrics and gynecology. The Journal publishes original research articles, case reports, review articles and letters to the editor. The Journal will give publication priority to original research articles over case reports. Accepted papers become the exclusive licence of the Journal. Manuscripts are peer reviewed by at least two referees and/or Associate Editors expert in the field of the submitted paper.
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