Multidisciplinary Team Management of Congenital Dysfibrinogenemia in Pregnancy: A Case Report

Background: Congenital dysfibrinogenemia is an autosomal dominant inherited disorder characterized by abnormal fibrinogen. Managing patients with congenital dysfibrinogenemia during pregnancy and perioperative periods is complex, with potential risks of bleeding and thrombosis. Additionally, pregnancy may be associated with adverse events such as recurrent pregnancy loss, stillbirths, placental abruption, and fetal growth restriction. Due to significant individual variability in clinical presentation, there is currently no routine laboratory test to effectively predict bleeding or thrombotic risks, complicating clinical management, especially during pregnancy. Case presentation: A 23-year-old primigravida was diagnosed with congenital dysfibrinogenemia after low fibrinogen levels were detected early in her pregnancy. Family history revealed similar fibrinogen abnormalities in her father and brother. Amniocentesis for fetal genetic testing was performed after a multidisciplinary team evaluated bleeding risks, with no complications during or immediately following the procedure. Genetic testing confirmed congenital dysfibrinogenemia in both the mother and fetus. Throughout the pregnancy, the patient was closely monitored, with no signs of bleeding, thrombosis, or other complications. At 39.3 weeks, following a failed attempt at vaginal delivery, she underwent a cesarean section with fibrinogen replacement therapy. The surgery was uneventful, and there were no significant bleeding or thrombotic events postoperatively. Conclusions: This case emphasizes the critical role of a multidisciplinary team approach in managing congenital dysfibrinogenemia during pregnancy, amniocentesis, and perinatal care. It demonstrates the effectiveness of thorough disease assessment and fibrinogen replacement therapy in preventing bleeding, thereby ensuring positive outcomes for both the mother and fetus.