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 r...

Full description

Saved in:
Bibliographic Details
Main Authors: Neena Modi, Hilary S Wong, Michael C O'Donovan, Anita Thapar, Lucinda Hopkins
Format: Article
Language:English
Published: BMJ Publishing Group 2020-02-01
Series:BMJ Paediatrics Open
Online Access:https://bmjpaedsopen.bmj.com/content/4/1/e000648.full
Tags: Add Tag
No Tags, Be the first to tag this record!
_version_ 1846148574726848512
author Neena Modi
Hilary S Wong
Michael C O'Donovan
Anita Thapar
Lucinda Hopkins
author_facet Neena Modi
Hilary S Wong
Michael C O'Donovan
Anita Thapar
Lucinda Hopkins
author_sort Neena Modi
collection DOAJ
description 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.
format Article
id doaj-art-f70ea9efc60c4de4a99e8ad910de52ee
institution Kabale University
issn 2399-9772
language English
publishDate 2020-02-01
publisher BMJ Publishing Group
record_format Article
series BMJ Paediatrics Open
spelling doaj-art-f70ea9efc60c4de4a99e8ad910de52ee2024-12-01T04:55:11ZengBMJ Publishing GroupBMJ Paediatrics Open2399-97722020-02-014110.1136/bmjpo-2020-000648Pilot study to establish a prospective neonatal cohort: Study of Preterm Infants and Neurodevelopmental Genes (SPRING)Neena Modi0Hilary S Wong1Michael C O'Donovan2Anita Thapar3Lucinda Hopkins4presidentDepartment of Paediatrics, University of Cambridge School, Cambridge, Cambridgeshire, UKMRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, South Glamorgan, UKWolfson Centre for Young People’s Mental Health, Cardiff University, Cardiff, UKMRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, South Glamorgan, UKBackground 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.https://bmjpaedsopen.bmj.com/content/4/1/e000648.full
spellingShingle Neena Modi
Hilary S Wong
Michael C O'Donovan
Anita Thapar
Lucinda Hopkins
Pilot study to establish a prospective neonatal cohort: Study of Preterm Infants and Neurodevelopmental Genes (SPRING)
BMJ Paediatrics Open
title Pilot study to establish a prospective neonatal cohort: Study of Preterm Infants and Neurodevelopmental Genes (SPRING)
title_full Pilot study to establish a prospective neonatal cohort: Study of Preterm Infants and Neurodevelopmental Genes (SPRING)
title_fullStr Pilot study to establish a prospective neonatal cohort: Study of Preterm Infants and Neurodevelopmental Genes (SPRING)
title_full_unstemmed Pilot study to establish a prospective neonatal cohort: Study of Preterm Infants and Neurodevelopmental Genes (SPRING)
title_short Pilot study to establish a prospective neonatal cohort: Study of Preterm Infants and Neurodevelopmental Genes (SPRING)
title_sort pilot study to establish a prospective neonatal cohort study of preterm infants and neurodevelopmental genes spring
url https://bmjpaedsopen.bmj.com/content/4/1/e000648.full
work_keys_str_mv AT neenamodi pilotstudytoestablishaprospectiveneonatalcohortstudyofpreterminfantsandneurodevelopmentalgenesspring
AT hilaryswong pilotstudytoestablishaprospectiveneonatalcohortstudyofpreterminfantsandneurodevelopmentalgenesspring
AT michaelcodonovan pilotstudytoestablishaprospectiveneonatalcohortstudyofpreterminfantsandneurodevelopmentalgenesspring
AT anitathapar pilotstudytoestablishaprospectiveneonatalcohortstudyofpreterminfantsandneurodevelopmentalgenesspring
AT lucindahopkins pilotstudytoestablishaprospectiveneonatalcohortstudyofpreterminfantsandneurodevelopmentalgenesspring