Blood gene transcript signature profiling in pregnancies resulting in preterm birth: A systematic review

Abstract

Blood gene transcript signature profiling in pregnancies resulting in preterm birth: A systematic review Tobias Brummaiera,b,c,d,*, Basirudeen Syed Ahamed Kabeere, Damien Chaussabele, Jürg Utzingerc,d, Rose McGreadya,b, Daniel H. Parisc,d a Shoklo Malaria Research Unit, Mahidol-Oxford Tropical Medicine Research Unit, Faculty of Tropical Medicine, Mahidol University, Mae Sot, Thailand b Centre for Tropical Medicine and Global Health, Nuffield Department of Medicine, University of Oxford, Oxford, United Kingdom c Swiss Tropical and Public Health Institute, Basel, Switzerland d University of Basel, Basel, Switzerland e Sidra Medicine, Doha, Qatar A R T I C L E I N F O Article history: Received 27 May 2020 Received in revised form 16 September 2020 Accepted 21 September 2020 Available online 22 September 2020 Keywords: Antenatal screening Gene expression profiling Preterm birth Systematic review Transcriptome A B S T R A C T Objective: To pursue a systematic review and summarise the current evidence for the potential of transcriptome molecular profiling in investigating the preterm phenotype. Study design: We systematically reviewed the literature, using readily available electronic databases (i.e. PubMed/Medline, Embase, Scopus and Web of Science) from inception until March 2020 to identify investigations of maternal blood-derived RNA profiling in preterm birth (PTB). Studies were included if circulating coding or non-coding RNA was analysed in maternal blood during pregnancy and/or at delivery. Interventional trials were not included. The primary outcome was the availability of whole genome expression patterns evaluated in pregnancies resulting in preterm deliveries. Results: A total of 35 articles were included in the final analysis. Most of the studies were conducted in high-income countries and published in the last decade. Apart from spontaneous PTB, a variety of phenotypes leading to preterm delivery were reported. Differences in sampling methods, target gene selection and laboratory protocols severely limited any quantitative comparisons. Most of the studies revealed that gene expression profiling during pregnancy has high potential for identifying women at risk of spontaneous and/or non-spontaneous PTB as early as in the first trimester. Conclusion: Assessing maternal blood-derived transcriptional signatures for PTB risk in pregnant women holds promise as a screening approach. However, longitudinally followed, prospective pregnancy cohorts are lacking. These are relevant for identifying causes leading to PTB and whether prediction of spontaneous PTB or co-morbidities associated with PTB is achievable. More emphasis on widely employed standardised protocols is required to ensure comparability of results.