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Population study | Gestational age at examination | Metabolomic analysis | Main results | Significance/take-home messages | Reference | Author, year |
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14 pregnancies with spina bifida fetuses versus 18 controls | Second and third trimester (at amniocentesis and cesarean section) | 1H NMR | Alterations in the concentrations of succinic acid, glutamine, creatine, creatinine | Metabolomics can point out derangements in aminoacids metabolism in fetuses with spina bifida and help to diagnose it | [40] | Groenen et al., 2004 |
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Healthy pregnancies | Second trimester (16-17 ws) | RP-LC, MS 1H NMR | 60 metabolites | Extended metabolite database for detecting biomarkers of pregnancy disorders | [39] | Graça et al., 2008 |
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51 healthy pregnancies versus 12 fetal malformations | second trimester (15–24 ws) | NMR | Glucose, free lactate levels, succinate, gluconeogenic aminoacids, glutamine, glycine, urea, glutamine/glutamate ratios | Metabolomics may help detecting malformed fetuses (due to the changes in glycolysis and gluconeogenesis, and their kidney underdevelopment) | [38] | Graça et al., 2009 |
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82 normal pregnancies 27 fetal malformation | | | 22 metabolites, inclusion of new metabolites: ascorbate, α oxoisovalerate, creatinine, isoleucine, serine, threonine | Metabolomics might be able to identify biomarkers of prenatal disorders | | |
27 prediagnostic GDM | Second trimester | 1H NMR | Glucose, amino acids, organic acids, creatinine, glycerophosphocholine (GPC) | [37] | Graça et al., 2010 |
12 preterm delivery | | | Allantoine, alanine, citrate, myoinositol | | |
34 PROM 10 chromosomopathies | | | Minor metabolic profile changes no relevant changes | | |
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2 studies including 16 + 40 PTL → at term 19 + 33 PTL without IAI 20 + 40 PTL with IAI | Second and third trimester (22–35 ws) | LC/MS GC/MS | Carbohydrates, amino acids, presence of xenobiotic compounds (salicylamide, bacterial products) Classification of patients at risk for PTL with 88.5% accuracy | Metabolic profiling of amniotic fluid can be used to assess the risk of preterm delivery with or without IAI | [41] | Romero et al., 2010 |
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36 controls 29 fetal malformations 37 prediagnostic GDM 34 preterm delivery | Second trimester | UPLC-MS NMR | New results: changes in pyroglutamate, hippurate No relevant changes | Potential of the tandem use of MS and NMR for metabolomics studies of urine and amniotic fluid in pregnant women | [30] | Graça et al., 2012 |
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