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

Pregnancy loss (PL) and preterm delivery (PTD) is a burden for the health-care system and a traumatizing experience for the patient, remaining the leading cause of perinatal complications for the mother and a child. Etiology of prematurity is poorly understood, despite significant research efforts. A distinct risk factor for PL/PTD is cervical insufficiency. Family clustering of cervical insufficiency is observed, talking in favor of its genetic origin. Notwithstanding the genomic advancements, we know surprisingly little about the genetics of prematurity and hardly any gene involved in cervical weakness development. Based on our pilot-project we hypothesize that cervical insufficiency is a subtle form of collagenopathies caused by changes in genes involved in collagen production. We aim to develop collagenopathies assessment form and analyze 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, we have performed systematic analysis and classification of genes studied in relation to the cervix. We aim to collect comprehensive information on etiological factors affecting prematurity in Latvian population. New knowledge obtained during the study will improve clinical at-risk patient evaluation and management, reduce social misconception on complex process of prematurity facilitating informed decision making by the clinicians and patients.