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Gestational diabetes mellitus (GDM) affects approximately 14% of pregnancies globally, with rising incidence depending on the diagnostic criteria used. In the UK, screening relies on risk factors at booking, followed by a diagnosis via an oral glucose tolerance test in the second trimester. This approach may lack sensitivity and has poor tolerability. Emerging evidence suggests that GDM pathophysiology begins in the first trimester, with biomarkers showing potential for early prediction. Identifying these could enable earlier risk stratification, improved diagnostic pathways, and better maternal–fetal outcomes. This scoping review maps the existing literature on first‐trimester biomarkers of GDM to evaluate their clinical utility and integration into predictive models. A literature search was conducted using Medline, Embase, and PubMed to identify studies on first‐trimester biomarkers of GDM. Inclusion criteria included (1) studies investigating biomarkers at <15 weeks' gestation; (2) studies that diagnosed GDM using an OGTT with recognized diagnostic guidelines or clearly stated glucose thresholds. A total of 133 studies were included, reporting a wide range of biomarkers (145 in total). PAPP‐A was generally lower in GDM, with mixed findings for β‐hCG and PlGF. Metabolic markers, including lipid profiles, fasting glucose, and HbA1c, were often elevated. Inflammatory markers, such as WCC, neutrophils, and CRP, were higher in those later diagnosed with GDM. First‐trimester biomarkers highlight GDM's complex pathophysiology. PAPP‐A shows predictive potential, while metabolic and inflammatory biomarkers suggest early systemic dysfunction. Emerging tools like 3D ultrasonography indicate placental structural changes. Larger studies are needed to validate these biomarkers and integrate them into predictive models to improve maternal–fetal outcomes. Of the 145 first‐trimester biomarkers identified for gestational diabetes mellitus, many show potential for early prediction. This highlights a window for intervention before the current clinical standards of diagnosis in the second trimester.

The Fell and Dales are rare native UK pony breeds at risk due to falling numbers, in-breeding, and inherited disease. Specifically, the lethal Mendelian recessive disease Foal Immunodeficiency Syndrome (FIS), which manifests as B-lymphocyte immunodeficiency and progressive anemia, is a substantial threat. A significant percentage (∼10%) of the Fell ponies born each year dies from FIS, compromising the long-term survival of this breed. Moreover, the likely spread of FIS into other breeds is of major concern. Indeed, FIS was identified in the Dales pony, a related breed, during the course of this work. Using a stepwise approach comprising linkage and homozygosity mapping followed by haplotype analysis, we mapped the mutation using 14 FIS-affected, 17 obligate carriers, and 10 adults of unknown carrier status to a ∼1 Mb region (29.8 - 30.8 Mb) on chromosome (ECA) 26. A subsequent genome-wide association study identified two SNPs on ECA26 that showed genome-wide significance after Bonferroni correction for multiple testing: BIEC2-692674 at 29.804 Mb and BIEC2-693138 at 32.19 Mb. The associated region spanned 2.6 Mb from ∼29.6 Mb to 32.2 Mb on ECA26. Re-sequencing of this region identified a mutation in the sodium/myo-inositol cotransporter gene (SLC5A3); this causes a P446L substitution in the protein. This gene plays a crucial role in the regulatory response to osmotic stress that is essential in many tissues including lymphoid tissues and during early embryonic development. We propose that the amino acid substitution we identify here alters the function of SLC5A3, leading to erythropoiesis failure and compromise of the immune system. FIS is of significant biological interest as it is unique and is caused by a gene not previously associated with a mammalian disease. Having identified the associated gene, we are now able to eradicate FIS from equine populations by informed selective breeding.

The Fell and Dales are rare native UK pony breeds at risk due to falling numbers, in-breeding, and inherited disease. Specifically, the lethal Mendelian recessive disease Foal Immunodeficiency Syndrome (FIS), which manifests as B-lymphocyte immunodeficiency and progressive anemia, is a substantial threat. A significant percentage (~10%) of the Fell ponies born each year dies from FIS, compromising the long-term survival of this breed. Moreover, the likely spread of FIS into other breeds is of major concern. Indeed, FIS was identified in the Dales pony, a related breed, during the course of this work. Using a stepwise approach comprising linkage and homozygosity mapping followed by haplotype analysis, we mapped the mutation using 14 FIS-affected, 17 obligate carriers, and 10 adults of unknown carrier status to a ~1 Mb region (29.8 - 30.8 Mb) on chromosome (ECA) 26. A subsequent genome-wide association study identified two SNPs on ECA26 that showed genome-wide significance after Bonferroni correction for multiple testing: BIEC2-692674 at 29.804 Mb and BIEC2-693138 at 32.19 Mb. The associated region spanned 2.6 Mb from ~29.6 Mb to 32.2 Mb on ECA26. Re-sequencing of this region identified a mutation in the sodium/myo-inositol cotransporter gene (SLC5A3); this causes a P446L substitution in the protein. This gene plays a crucial role in the regulatory response to osmotic stress that is essential in many tissues including lymphoid tissues and during early embryonic development. We propose that the amino acid substitution we identify here alters the function of SLC5A3, leading to erythropoiesis failure and compromise of the immune system. FIS is of significant biological interest as it is unique and is caused by a gene not previously associated with a mammalian disease. Having identified the associated gene, we are now able to eradicate FIS from equine populations by informed selective breeding.