Prediction of spontaneous preterm birth using supervised machine learning on metabolomic data: A case–cohort study

Publication: BJOG

Yasmina Al Ghadban, Yuheng Du, D. Stephen Charnock-Jones, Lana X. Garmire, Gordon C. S. Smith, Ulla Sovio

20 November 2023

Summary

This study identified metabolites from the blood of pregnant mothers that are predictive of spontaneous preterm birth. The results require validation in external populations.

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Metabolomic Identification of a Novel, Externally Validated Predictive Test for Gestational Diabetes Mellitus

Publication: The Journal of Clinical Endocrinology & Metabolism

Ulla Sovio, Gemma L Clayton, Emma Cook, Francesca Gaccioli, D Stephen Charnock-Jones, Deborah A Lawlor, Gordon C S Smith

18 April 2022


Summary

Currently in the UK, women are selected for diagnostic testing for Gestational Diabetes Mellitus (GDM) based on risk factors such as obesity.  Researchers developed a new predictive test for GDM using metabolomic markers from maternal serum samples, measured at multiple stages of pregnancy. The test was developed using samples from the Pregnancy Outcome Prediction (POP) study and it was externally validated in maternal plasma samples from a demographically highly dissimilar Born in Bradford (BiB) study. Further assessment in the POP study suggested that the predictive ability of a model including the metabolomic markers was clearly better compared to using early pregnancy obesity alone.

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Placental sex-dependent spermine synthesis regulates trophoblast gene expression through acetyl-coA metabolism and histone acetylation

Publication: Nature Communications Biology

Irving L. M. H. Aye, Sungsam Gong, Giulia Avellino, Roberta Barbagallo, Francesca Gaccioli, Benjamin J. Jenkins, Albert Koulman, Andrew J. Murray, D. Stephen Charnock-Jones & Gordon C. S. Smith

15 June 2022


Summary

Placental function and dysfunction differ by sex but the mechanisms are unknown. Researchers show that sex differences in polyamine metabolism are associated with escape from X chromosome inactivation of the gene encoding spermine synthase (SMS).

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Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood

Publication: HGG Advances

Courtney E. French, Helen Dolling, Karyn Mégy, Alba Sanchis-Juan, Ajay Kumar, Isabelle Delon, Matthew Wakeling, Lucy Mallin, Shruti, Agrawal, Topun Austin, Florence Walston, Soo-Mi Park, Alasdair, Parker, Chinthika Piyasena, Kimberley Bradbury, Sian Ellard, David H.Rowitch, LucyRaymond

24 May 2022


Summary

More than a third of severely sick babies referred for rapid whole genome sequencing received a vital genetic diagnosis. Results from the latest Cambridge genomic study supported by NIHR Cambridge BRC and NIHR BioResource, confirm rapid whole genome sequencing (WGS) as an effective early test to aid diagnosis in severely ill children. Read the full story. 

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Brain charts for the human lifespan

Publication: Nature

R. A. I. Bethlehem, J. Seidlitz, S. R. White, J. W. Vogel, K. M. Anderson, C. Adamson, S. Adler, G. S. Alexopoulos, E. Anagnostou, A. Areces-Gonzalez, D. E. Astle, B. Auyeung,
M. Ayub, J. Bae, G. Ball, S. Baron-Cohen, R. Beare, S. A. Bedford, V. Benegal, F. Beyer, J. Blangero, M. Blesa Cábez, J. P. Boardman, M. Borzage, J. F. Bosch-Bayard, N. Bourke, V. D. Calhoun, M. M. Chakravarty, C. Chen, C. Chertavian, G. Chetelat, Y. S. Chong, J. H. Cole, A. Corvin, M. Costantino, E. Courchesne, F. Crivello, V. L. Cropley, J. Crosbie, N. Crossley, M. Delarue, R. Delorme, S. Desrivieres, G. A. Devenyi, M. A. Di Biase, R. Dolan, K. A. Donald, G. Donohoe, K. Dunlop, A. D. Edwards, J. T. Elison, C. T. Ellis, J. A. Elman, L. Eyler, D. A. Fair, E. Feczko, P. C. Fletcher, P. Fonagy, C. E. Franz, L. Galan-Garcia, A. Gholipour, J. Giedd, J. H. Gilmore, D. C. Glahn, I. M. Goodyer, P. E. Grant, N. A. Groenewold, F. M. Gunning, R. E. Gur, R. C. Gur, C. F. Hammill, O. Hansson, T. Hedden, A. Heinz, R. N. Henson, K. Heuer, J. Hoare, B. Holla, A. J. Holmes, R. Holt, H. Huang, K. Im, J. Ipser, C. R. Jack Jr, A. P. Jackowski, T. Jia, K. A. Johnson, P. B. Jones, D. T. Jones, R. S. Kahn, H. Karlsson, L. Karlsson, R. Kawashima, E. A. Kelley, S. Kern, K. W. Kim, M. G. Kitzbichler, W. S. Kremen, F. Lalonde, B. Landeau, S. Lee, J. Lerch, J. D. Lewis, J. Li, W. Liao, C. Liston, M. V. Lombardo, J. Lv, C. Lynch, T. T. Mallard, M. Marcelis, R. D. Markello, S. R. Mathias, B. Mazoyer, P. McGuire, M. J. Meaney, A. Mechelli, N. Medic, B. Misic, S. E. Morgan, D. Mothersill, J. Nigg, M. Q. W. Ong, C. Ortinau, R. Ossenkoppele, M. Ouyang, L. Palaniyappan, L. Paly, P. M. Pan, C. Pantelis, M. M. Park, T. Paus, Z. Pausova, D. Paz-Linares, A. Pichet Binette, K. Pierce, X. Qian, J. Qiu, A. Qiu, A. Raznahan, T. Rittman, A. Rodrigue, C. K. Rollins, R. Romero-Garcia, L. Ronan, M. D. Rosenberg, D. H. Rowitch, G. A. Salum, T. D. Satterthwaite, H. L. Schaare, R. J. Schachar, A. P. Schultz, G. Schumann, M. Schöll, D. Sharp, R. T. Shinohara, I. Skoog, C. D. Smyser, R. A. Sperling, D. J. Stein, A. Stolicyn, J. Suckling, G. Sullivan, Y. Taki, B. Thyreau, R. Toro, N. Traut, K. A. Tsvetanov, N. B. Turk-Browne, J. J. Tuulari, C. Tzourio, É. Vachon-Presseau, M. J. Valdes-Sosa, P. A. Valdes-Sosa, S. L. Valk, T. van Amelsvoort, S. N. Vandekar, L. Vasung, L. W. Victoria, S. Villeneuve, A. Villringer, P. E. Vértes, K. Wagstyl, Y. S. Wang, S. K. Warfield, V. Warrier, E. Westman, M. L. Westwater, H. C. Whalley, A. V. Witte, N. Yang, B. Yeo, H. Yun, A. Zalesky, H. J. Zar, A. Zettergren, J. H. Zhou, H. Ziauddeen, A. Zugman, X. N. Zuo, E. T. Bullmore & A. F. Alexander-Bloch

6 April 2022


Summary

An international team of researchers has created a series of brain charts spanning our entire lifespan – from a 15 week old fetus to 100 year old adult – that show how our brains expand rapidly in early life and slowly shrink as we age. Read the full story.

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A maternal serum metabolite ratio predicts large for gestational age infants at term: a prospective cohort study

Publication: The Journal of Clinical Endocrinology & Metabolism

Ulla Sovio, Neil Goulding, Nancy McBride, Emma Cook, Francesca Gaccioli,  Stephen Charnock-Jones, Deborah A Lawlor, Gordon C S Smith, 

19 November 2021


Summary

Large size at birth is associated with complications in the mother and the baby. Alongside work in fetal growth restriction (FGR), researchers analysed their previously developed metabolite ratio in relation to large for gestational age (LGA) infants born at term.

They found that the metabolite ratio predictive of FGR was inversely associated with both LGA and birth weight z score as a continuous trait. These findings, obtained from the Pregnancy Outcome Prediction study, were externally validated in the Born in Bradford study.

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Do Mass Spectrometry-Derived Metabolomics Improve the Prediction of Pregnancy-Related Disorders? Findings from a UK Birth Cohort with Independent Validation

Publication: Metabolites

Nancy McBride, Paul Yousefi, Ulla Sovio, Kurt Taylor, Yassaman Vafai, Tiffany Yang, Bo Hou, Matthew Suderman, Caroline Relton,  Gordon C. S. Smith, Deborah A. Lawlor

10 August 2021


Summary

Many women who experience gestational diabetes (GDM), gestational hypertension (GHT), pre-eclampsia (PE), have a spontaneous preterm birth (sPTB) or have an offspring born small/large for gestational age (SGA/LGA) do not meet the criteria for high-risk pregnancies based upon certain maternal risk factors. The aim of this study was to assess the predictive ability of an untargeted platform of over 700 metabolites to predict the above pregnancy-related disorders in two cohorts.

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The RNA landscape of the human placenta in health and disease

Publication: Nature Communications

Sungsam Gong, Francesca Gaccioli, Justyna Dopierala, Ulla Sovio, Emma Cook, Pieter-Jan Volders, Lennart Martens, Paul D. W. Kirk, Sylvia Richardson, Gordon C. S. Smith & D. Stephen Charnock-Jones 

11 May 2021


Summary

The placenta is understudied and is commonly omitted from large-scale “-omic” analyses, this study enables tissue-wide comparison of transcriptome analyses, looking at identification placentally-related adverse pregnancy outcomes such as fetal growth restriction (FGR) and preeclimisia (PE).

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Slowing of fetal growth and elevated maternal serum sFLT1:PlGF are associated with early term spontaneous labor

Publication: American Journal of Obstetrics and Gynecology

Ulla Sovio, Francesca Gaccioli, Emma Cook, Stephen Charnock-Jones, .Gordon C.S,

24 April 2021


Summary

Slowing of fetal growth and elevated maternal serum are associated with early term spontaneous labor

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Inherent mosaicism and extensive mutation of human placentas

Publication: Nature

Tim H. H. Coorens, Thomas R. W. Oliver, Rashesh Sanghvi, Ulla Sovio, Emma Cook, Roser Vento-Tormo, Muzlifah Haniffa, Matthew D. Young, Raheleh Rahbari, Neil Sebire, Peter J. Campbell, D. Stephen Charnock-Jones, Gordon C. S. Smith & Sam Behjati

10 March 2020


Summary

Researchers found evidence to support the theory of the placenta as a ‘dumping ground’ for genetic defects, whereas the fetus corrects or avoids these errors. The findings provide a clear rationale for studying the association between genetic aberrations and birth outcomes, in order to better understand problems such as premature birth and stillbirth. Read the full story.

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