• Neonatal Medicine
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• v.18 no.1
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• pp.23-33
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• 2011

The etiology of thrombosis is multifactorial and involves the interaction of inherited and acquired risk factors. Many neonatal thromboembolic disorders are iatrogenic and their incidence is likely to increase as advancements are made in neonatal care. Among pediatric populations, neonates have the highest risk for thrombosis secondary to the unique developmental hemostatic system, inherited prothrombotic disorders, and perinatal clinical conditions. Central venous and arterial catheters present the greatest risk for developing thromboembolisms in neonates. Both venous and arterial thromboses have been reported in a variety of anatomic locations. Prompt identification and appropriate management of thromboembolisms is critical for avoiding life-threatening complications. To date, few data are currently available regarding the contribution of inherited and acquired prothrombotic disorders in the pathogenesis of neonatal thromboembolism. In particular, a lack of information about neonatal thromboembolism in Korea has inhibited the development of appropriate guidelines for diagnosing thromboembolisms in neonates. An overview of the current knowledge about the role of inherited and acquired risk factors for neonatal thromboembolism in the West and a detailed description of common neonatal thromboembolic diseases is reviewed.

• Journal of Genetic Medicine
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• v.16 no.1
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• pp.23-26
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• 2019

Thrombophilia refers to inherited or acquired hemostatic disorders that result in a predisposition to blood clot formation. When combined with the hypercoagulable state that is characteristic of pregnancy, there is an increased risk of severe and recurrent pregnancy complications. Activated protein C resistance caused by factor V Leiden (FVL) mutation is known to be the most common cause of inherited thrombophilia in Caucasian population. FVL mutation has been related to pregnancy complications associated with hypercoagulation, e.g. miscarriage, intrauterine fetal demise, placental abruption, and intrauterine growth retardation. Although the FVL mutation is easily detected using molecular DNA techniques, patients who are heterozygous for this disorder often remain asymptomatic until they develop a concurrent prothrombotic condition. Because there are potentially serious effects of FVL mutation for pregnancy, and because effective treatment strategies exist, early detection and treatment of this condition might be considered.