University of Oulu

Huida, J., Ojala, T., Ilvesvuo, J., Surcel, H.-M., Priest, J. R., & Helle, E. (2023). Maternal first trimester metabolic profile in pregnancies with transposition of the great arteries. Birth Defects Research, 115(5), 517–524.

Maternal first trimester metabolic profile in pregnancies with transposition of the great arteries

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Author: Huida, Johanna1; Ojala, Tiina2; Ilvesvuo, Johanna3;
Organizations: 1New Children's Hospital, Pediatric Research Center, Helsinki University Hospital and University of Helsinki, Helsinki, Finland
2Pediatric Cardiology, Pediatric Research Center, New Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
3Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
4Faculty of Medicine, University of Oulu, Oulu, Finland
5Biobank Borealis of Northern Finland, Oulu, Finland
6Tenaya Therapeutics, South San Francisco, California, USA
7Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA
8Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland
9Department of Paediatrics, Labatt Family Heart Centre, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
Format: article
Version: published version
Access: open
Online Access: PDF Full Text (PDF, 2.1 MB)
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Language: English
Published: John Wiley & Sons, 2023
Publish Date: 2023-11-07


Background: Higher maternal body mass index (BMI) and abnormal glucose metabolism during early pregnancy are associated with congenital heart defects in the offspring, but the exact mechanisms are unknown.

Methods: We evaluated the association between maternal first trimester metabolic profile and transposition of the great arteries (TGA) in the offspring in a matched case–control study with 100 TGA mothers and 200 controls born in Finland during 2004–2014. Cases and controls were matched by birth year, child sex, and maternal age and BMI. Serum samples collected between 10- and 14-weeks of gestation were analyzed for 73 metabolic measures. Conditional logistic regression was used to assess the risk for TGA in the offspring, and a subgroup analysis among mothers with high BMI was conducted.

Results: Higher concentrations of four subtypes of extremely large very-low-density lipoprotein (VLDL) particles and one of large VLDL particles were observed in TGA mothers. This finding did not reach statistical significance after multiple testing correction. The pooled odds ratio (OR) of the all metabolic variables was slightly higher in TGA mothers in the subgroup with maternal BMI over 25 (OR 1.25) and significantly higher in the subgroup with maternal BMI over 30 (OR 1.95) compared to the original population (OR 1.18).

Conclusions: Our findings indicate that an abnormal maternal early pregnancy metabolic profile might be associated with TGA in the offspring, especially in obese mothers. A trend indicating altered VLDL subtype composition in TGA pregnancies warrants further research.

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Series: Birth defects research
ISSN: 2472-1727
ISSN-E: 2472-1727
ISSN-L: 2472-1727
Volume: 115
Issue: 5
Pages: 517 - 524
DOI: 10.1002/bdr2.2139
Type of Publication: A1 Journal article – refereed
Field of Science: 3123 Gynaecology and paediatrics
Funding: This work was supported by the Finnish Foundation for Pediatric Research, the Academy of Finland, the University of Helsinki, the Finnish Medical Foundation, and the Pediatric Research Center of the Hospital District of Helsinki and Uusimaa (HUS).
Copyright information: © 2022 The Authors. Birth Defects Research published by Wiley Periodicals LLC. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.