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. 2024 Apr 25;14(4):e082237. doi: 10.1136/bmjopen-2023-082237

Table 4.

Biological samples obtained in women, partners and children for planned analysis and biobank for future use

Type Analysis
Epigenetics The epigenetic profile of DNA samples extracted from whole blood (10 mL) will be characterised by genome-wide DNA methylation using Infinium HumanMethylation450 BeadChip arrays. Principle component and hierarchical clustering analyses will be used to identify associations between methylation patterns and a range of clinical characteristics and biomarkers in women, offspring and partners.
Genetics Genomic DNA will be extracted from the buffy coat and will be non-comprehensively genotyped using Illumina Infinium Global Screening Array. After removing individuals with >10% variant missingness, and/or extreme inbreeding coefficient in the quality control procedure, data will be imputed using the most recent updated reference, that is, Haplotype Reference Consortium reference panel build GRCh37. Polygenic risk scores for type 1 diabetes, type 2 diabetes and other cardiometabolic traits (ie, glucose levels, blood pressure, lipid levels, insulin secretion, insulin resistance, BMI, weight, waist corrected for BMI) will be calculated using common SNPs and published weighted scores for phenotypic traits.
Small RNA The presence of parental small RNAs levels during pregnancy or after delivery will be analysed to identify predictive biomarkers of maternal and offspring health. 500 µL plasma or serum will be used for the measurement of circulating small RNAs by either RT-qPCR or sequencing.
Proteomics Clinical proteomics will be used to (1) identify/evaluate early biomarkers to predict maternal and neonatal complications as well as metabolic risk profile later in life and (2) investigate if mass spectrometry-based glycated albumin associates with maternal and neonatal outcome.
Inflammatory cytokines Eg, Tumour necrosis factor alpha, interferon gamma, CD163, various chemokines and interleukins and vascular factors.
Metabolic markers Eg, C-peptide, fibroblast growth factor 21, leptin, adiponectin, growth/differentiation factor 15, glycated CD-59, adrenomedullin, apolipoproteins, cortisol, corticosteroid binding globulin and prolactin.
Placental markers Eg, Placental growth factor, soluble fms-like tyrosine kinase-1, pregnancy associated plasma protein A and placental derived exosomes.
Plasma and serum for biobank for future research

*Obtained from women only.

BMI, body mass index; SNPs, single-nucleotide polymorphisms.