Elucidating comprehensive etiology of cervical insufficiency to foster timely diagnosis of preterm delivery and prevent adverse outcomes in obstetrics

The etiology of prematurity is poorly understood, despite significant research efforts. A distinct risk factor for loss of pregnancy and preterm delivery is cervical insufficiency. The observed aggregation of isthmicocervical insufficiency in families speaks in favour of its genetic origin but, genomic advancements notwithstanding, surprisingly little is known about the genetics of prematurity and hardly any genes involved in the development of cervical weakness. Based on the pilot-project, the hypothesis is that cervical insufficiency is a subtle form of collagenopathies caused by changes in genes involved in collagen production.

The aim of the project is to develop collagenopathies assessment form and analyse patients’ DNA using next generation sequencing (NGS) technology in a cohort of 100 women with cervical insufficiency. In order to facilitate statistical and bioinformatics NGS data analysis, systematic analysis has been performed and classification of genes studied in relation to the cervix. The aim is to collect comprehensive information on etiological factors affecting prematurity in the Latvian population. New knowledge obtained during the study will improve the evaluation of clinical at-risk patients and their management, to reduce social misconceptions on complex process of prematurity facilitating informed decision-making by clinicians and patients.