Influence of prothrombotic mutations on prematurity and cerebral hemorrhage in preterm infants

The study investigates genetic risk factors for preterm birth and severe illness in premature infants. Our previous data on the increased prevalence of prothrombotic mutations in premature infants (1) have been confirmed by the study so far. We were also able to show that the negative population genetic effects of the Factor V Leiden mutation (increased risk of preterm birth and second-trimester abortion) are offset by an implantation advantage for carriers (2). A second focus of our work is the investigation of the impact of prothrombotic mutations on the development and course of intracranial hemorrhage in premature infants. While the Factor V Leiden mutation and the Prothrombin 20210A mutation play only a minor role in this regard (3), the 34Leu mutation of the Factor XIII gene is associated with a significantly lower risk of developing severe intraventricular hemorrhage and periventricular leukomalacia (4). The aim of the project is to examine a large group of premature infants for genetic risk factors for preterm birth and severe illnesses of the premature infant in order to create the data basis for future intervention studies.