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dc.contributor.authorKeag, Oonagh E
dc.contributor.authorMurphy, Lee
dc.contributor.authorBradley, Aoibheann
dc.contributor.authorDeakin, Naomi
dc.contributor.authorWhyte, Sonia
dc.contributor.authorNorman, Jane E
dc.contributor.authorStock, Sarah J
dc.date.accessioned2020-05-25T00:23:39Z
dc.date.available2020-05-25T00:23:39Z
dc.date.issued2020-02-12
dc.identifier.issn2398-502X
dc.identifier.otherPMC7160603
dc.identifier.other32322692
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/305731
dc.description.abstractBackground: Preterm birth (PTB) represents the leading cause of neonatal death. Large-scale genetic studies are necessary to determine genetic influences on PTB risk, but prospective cohort studies are expensive and time-consuming. We investigated the feasibility of retrospective recruitment of post-partum women for efficient collection of genetic samples, with self-collected saliva for DNA extraction from themselves and their babies, alongside self-recollection of pregnancy and birth details to phenotype PTB. Methods: 708 women who had participated in the OPPTIMUM trial (a randomised trial of progesterone pessaries to prevent PTB [ISRCTN14568373]) and consented to further contact were invited to provide self-collected saliva from themselves and their babies. DNA was extracted from Oragene OG-500 (adults) and OG-575 (babies) saliva kits and the yield measured by Qubit. Samples were analysed using a panel of Taqman single nucleotide polymorphism (SNP) assays. A questionnaire designed to meet the minimum data set required for phenotyping PTB was included. Questionnaire responses were transcribed and analysed for concordance with prospective trial data. Results: Recruitment rate was 162/708 (23%) for self-collected saliva samples and 157/708 (22%) for questionnaire responses. 161 samples from the mother provided DNA with median yield 59.0µg (0.4-148.9µg). 156 samples were successfully genotyped (96.9%). 136 baby samples had a median yield 11.5µg (0.1-102.7µg); two samples failed DNA extraction. 131 baby samples (96.3%) were successfully genotyped. Concordance between self-recalled birth details and prospective birth details ranged from 55 - 99%, median 86%. The highest rates of concordance were found for mode of birth (154/156 [99%]), smoking status (151/157 [96%]) and ethnicity (149/156 [96%]). Conclusion: This feasibility study demonstrates that self-collected DNA samples from mothers and babies were sufficient for genetic analysis but yields were variable. Self-recollection of pregnancy and birth details was inadequate for accurately phenotyping PTB, highlighting the need for alternative strategies for investigating genetic links with PTB.
dc.languageeng
dc.rightsAttribution 4.0 International
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.sourcenlmid: 101696457
dc.sourceessn: 2398-502X
dc.subjectDNA
dc.subjectPhenotype
dc.subjectFetal Membranes
dc.subjectPremature Birth
dc.subjectPremature
dc.subjectPremature Rupture
dc.subjectObstetric Labour
dc.subjectSurveys And Questionnaires
dc.titlePostal recruitment for genetic studies of preterm birth: A feasibility study.
dc.typeArticle
dc.date.updated2020-05-25T00:23:38Z
prism.publicationNameWellcome open research
prism.volume5
dc.identifier.doi10.17863/CAM.52809
rioxxterms.versionofrecord10.12688/wellcomeopenres.15207.1
rioxxterms.versionVoR
rioxxterms.licenseref.urihttps://creativecommons.org/licenses/by/4.0/
dc.contributor.orcidKeag, Oonagh E [0000-0001-9187-1044]
dc.contributor.orcidMurphy, Lee [0000-0001-6467-7449]
dc.contributor.orcidDeakin, Naomi [0000-0002-4325-5703]
dc.contributor.orcidWhyte, Sonia [0000-0003-0878-4244]
dc.contributor.orcidNorman, Jane E [0000-0001-6031-6953]
dc.contributor.orcidStock, Sarah J [0000-0003-4308-856X]
pubs.funder-project-idWellcome Trust (209560)


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Attribution 4.0 International
Except where otherwise noted, this item's licence is described as Attribution 4.0 International