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

Wong, Hilary S., Hopkins, Lucinda, O'Donovan, Michael C. ORCID:, Thapar, Anita ORCID: and Modi, Neena 2020. Pilot study to establish a prospective neonatal cohort: Study of Preterm Infants and Neurodevelopmental Genes (SPRING). Molecular Psychiatry 4 (1) , e000648. 10.1136/bmjpo-2020-000648

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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 one-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 (inter-quartile range) gestation 28.9 (2630) weeks; birthweight 1120 (886-1420) grams) 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.

Item Type: Article
Date Type: Publication
Status: Published
Schools: MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Publisher: Springer Nature
ISSN: 1359-4184
Funders: MRC
Date of First Compliant Deposit: 21 May 2020
Date of Acceptance: 15 May 2020
Last Modified: 26 Oct 2023 09:34

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