Genetics of preterm labour

The identification of women at risk of preterm labour remains an important challenge. While current prevention programmes rely on overt clinical and environmental parameters, the clustering of preterm labour within families and recurrence in susceptible women presents the case for a complex underlying genetic predisposition. Genetic polymorphisms are useful markers to identify high risk groups, although they provide little information either to their underlying functionality or the pathophysiological mechanisms involved; these must be validated through complementary analytical approaches. Data interpretation and inter-study comparisons must be made with caution, taking into account population size, study power, racial differences, inclusion/exclusion criteria and any underlying gene–environment and feto–maternal interactions. Large-scale, multicentre genetic studies coupled with high-throughput screening techniques are the most viable approaches to identify multilocus preterm labour susceptibility screening panels. Preventive strategies may then be applied to those women most likely to benefit from intervention.