University of Oulu

Kvist T, Sammallahti S, Lahti-Pulkkinen M, et al. Cohort profile: InTraUterine sampling in early pregnancy (ITU), a prospective pregnancy cohort study in Finland: study design and baseline characteristics. BMJ Open 2022;12:e049231. doi:10.1136/bmjopen-2021-049231

Cohort profile : InTraUterine sampling in early pregnancy (ITU), a prospective pregnancy cohort study in Finland : study design and baseline characteristics

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Author: Kvist, Tuomas1; Sammallahti, Sara2; Lahti-Pulkkinen, Marius1;
Organizations: 1Department of Psychology and Logopedics, University of Helsinki, Helsinki, Finland
2Department of Child and Adolescent Psychiatry and Psychology, Erasmus MC, Rotterdam, The Netherlands
3Department of Translational Research in Psychiatry, Max-Planck Institute of Psychiatry, Munich, Germany
4Centre for Cardiovascular Science, Queen's Medical Research Institute, University of Edinburgh, Edinburgh, UK
5Singapore Institute for Clinical Sciences, Agency for Science, Technology and Research (A*STAR), Singapore
6Department of Obstetrics and Gynaecology, National University of Singapore Yong Loo Lin School of Medicine, Singapore
7Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
8Medical and Clinical Genetics, Helsinki University Hospital and University of Helsinki, Helsinki, Finland
9Helsinki Institute of Life Science, Institute of Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland
10PEDEGO Research Unit, MRC Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland
11Public Health Promotion Unit, Finnish Institute for Health and Welfare, Helsinki and Oulu, Finland
Format: article
Version: published version
Access: open
Online Access: PDF Full Text (PDF, 0.9 MB)
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Language: English
Published: BMJ, 2022
Publish Date: 2022-08-15


Purpose: The InTraUterine sampling in early pregnancy (ITU) is a prospective pregnancy cohort study. The overarching aim of ITU is to unravel genomic, epigenomic, transcriptomic, endocrine, inflammatory and metabolic maternal-placental-fetal mechanisms involved in the programming of health and disease after exposure to prenatal environmental adversity, such as maternal malnutrition, cardiometabolic disorders, infections, medical interventions, mental disorders and psychosocial stress. This paper describes the study protocol, design and baseline characteristics of the cohort.

Participants: We included 944 pregnant Finnish women, their partners and children born alive between April 2012 and December 2017. The women were recruited through the national, voluntary trisomy 21 screening between 9+0 and 21+6 gestational weeks. Of the participating women, 543 were screen positive and underwent fetal chromosomal testing. Test result of these women suggested no fetal chromosomal abnormality. Further, we recruited 401 women who were screen negative and who did not undergo fetal chromosomal testing.

Findings to date: We have collected chorionic villi and amniotic fluid from the screen-positive women; blood, urine, buccal swabs and diurnal salivary samples from all women; blood and buccal swabs from all partners; and placenta, cord blood and buccal swabs from all newborns for analyses of the genome, epigenome, transcriptome, and endocrine, inflammatory and metabolic markers. These data are coupled with comprehensive phenotypes, including questions on demographic characteristics, health and well-being of the women and their partners during pregnancy and of the women and their children at the child’s age of 1.7 and 3 years. Data also come from patient records and nationwide registers covering health, lifestyle and medication data.

Future plans: Multiple layers of ITU data allow integrative data analyses, which translate to biomarker identification and allow risk stratification and understanding of the biological mechanisms involved in prenatal programming of health and disease.

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Series: BMJ open
ISSN: 2044-6055
ISSN-E: 2044-6055
ISSN-L: 2044-6055
Volume: 12
Issue: 1
Article number: e049231
DOI: 10.1136/bmjopen-2021-049231
Type of Publication: A1 Journal article – refereed
Field of Science: 3123 Gynaecology and paediatrics
3142 Public health care science, environmental and occupational health
Funding: The ITU study is funded by the Academy of Finland (award numbers: 1284859, 12848591, 312670, 1324596) and the Diabetes Research Foundation
Copyright information: © Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.