Review Article

Metabolomics Application in Maternal-Fetal Medicine

Table 1

Methodology, findings, and main conclusions derived from metabolomics studies on maternal plasma.

Population Gestational age at examinationMetabolomic analysisMain differences in abnormal pregnanciesSignificance/take-home messagesReferenceAuthor, year

20 normal pregnanciesMatched
27 fetal malformationsAt diagnosisGluconeogenetic aminoacids, cis-aconitate, acetone, 3-hydroxibutirric, hypoxanthinePregnant women with malformed fetus showed enhanced glucogenesis and tricarboxylic acids cycle
23 chromosomal disordersAt diagnosisNMR[18] Diaz et al., 2011
14 prediagnostic GDMBefore positive OGTT3-Hydroxyisovalerate, 2-hydroxyisobutirratePregnant women who later develop GDM showed early changes in biotin status and altered aminoacid and/or gut metabolism
18 pPROMAt diagnosisNo alterations

11 normotensive pregnancies
versus 11 preeclamptic pregnancies
n.r.NMR Hystidine, tyrosine, phenylalanine Diagnosis of preeclampsia was possible by metabolomics[28] Turner et al., 2008

60 cases of PE versus matched controls15 ± 1 weeksUPLC-MS40 metabolites (detection rate 71%, 5% false positive) Metabolomics might predict preeclampsia, early and late PE not analysed separately[26] Kenny et al., 2010

41 cases of PE versus controlsFirst trimesterLS/MS40 acylcarnitine species and 32 aminoacids (AUC-ROC = 0.85) Metabolomics might predict early onset PE[27] Odibo et al., 2011

30 cases of early PE versus 60 controlsFirst trimesterNMRCitrate, glycerol, hydroxyisovalerate, and methionine and uterine Doppler abnormal PI (detection rate of 82.6%, at an FPR of 1.6%)Metabolomics might predict early onset PE[7] Bahado-Singh et al., 2012

30 cases of late PE versus 119 controlsFirst trimesterNMR17 metabolitesMetabolomics might predict late onset PE[8] Bahado-Singh et al., 2013

Pregnant women who subsequently delivered an SGA babyFirst trimesterUPLC-MS19 metabolites (OR = 44; AUC-ROC = 0.90) Metabolomics might predict SGA[29] Horgan et al., 2011

GDM: gestational diabetes mellitus; pPROM: preterm premature rupture of membranes; OGTT: oral glucose tolerance test; NMR: nuclear magnetic resonance spectroscopy; PE: preeclampsia; UPLC-MS: ultra performance liquid chromatography-mass spectrometry; LS/MS: liquid chromatography-mass spectrometry; SGA: small for gestational age.