Pilot study to establish a prospective neonatal cohort: Study of Preterm Infants and Neurodevelopmental Genes (SPRING).

BACKGROUND

Genetic risk variants and preterm birth are early and potent risk factors for later neuropsychiatric disorders. To understand the interrelationships between these factors, a large-scale genetic study of very preterm (VPT, <32 weeks gestation) infants with prospective follow-up is required. In this paper, we describe a streamlined study approach, using efficient processes for biological and clinical data collection, to feasibly establish such a cohort.

METHODS

We sought to recruit 500 VPT families within a 1 year period from neonatal units. Treating clinical teams recruited eligible participants, obtained parent consent, collected blood samples and posted specimens to the research laboratory. We extracted all clinical data from the National Neonatal Research Database, an existing UK resource that captures daily patient-level data on all VPT infants.

RESULTS

Between May 2017 and June 2018, we established a cohort of 848 VPT infants and their parents from 60 English neonatal units. The study population (median (IQR), gestation: 28.9 (26-30) weeks; birth weight: 1120 (886-1420) g) represented 18.9% of eligible infants born at the study sites during the recruitment period (n=4491). From the subset of 521 complete family trios, we successfully completed genotyping for 510 (97.9%) trios. Of the original 883 infants whose parents consented to participate, the parents of 796 (90.1%) infants agreed to future data linkage and 794 (89.9%) agreed to be recalled.

CONCLUSION

We demonstrate the feasibility and acceptability of streamlined strategies for genetic, neonatal and longitudinal data collection and provide a template for future cost-effective and efficient cohort development.

Informations de copyright

© Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY. Published by BMJ.

Déclaration de conflit d'intérêts

Competing interests: NM reports grants from the Medical Research Council, National Institute of Health Research, Department of Health, Westminster Research Fund, Prolacta LIfe Sciences, Chiesi Pharmaceuticals, grants from Shire Pharmaceuticals, HCA International, Healthcare Quality Improvement Partnership, March of Dimes. NM is director of the Neonatal Data Analysis Unit, chief investigator for the National Neonatal Research Database, and coinvestigator for the Department of Health Funded Maternal and Neonatal Health and Care Policy Research Unit at the University of Oxford. In the last three years, NM has served on the Nestle Scientific Advisory Board and the Boards of Trustees of the Royal College of Paediatrics and Child Health, David Harvey Trust, Medical Women’s Federation, Medact, Action Cerebral Palsy and TheirWorld.