Uncovering the role of genetic polymorphisms in cervical insufficiency.

Cervical insufficiency (CI) is characterized by spontaneous dilation of the cervix in the absence of painful uterine contractions in the mid-trimester, leading to premature delivery. It is responsible for up to 20% of second trimester pregnancy losses, mostly <24 weeks. This life-threatening condition for the growing fetus faced during pregnancy is of complex etiology. The genetic background of this disorder is of fundamental importance. A number of genes have been implicated in CI, highlighting the role of collagen, inflammation, immune, and coagulative factors as key players in CI pathogenesis. This review sheds light on current knowledge regarding the genetic component of CI, analyzing the genes that have been associated with this pathology and describing already identified pathways that participate in CI pathogenesis. Current scientific gaps and future research directions are also discussed in an attempt to disentangle the mystery of CI pathophysiology.