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• W2004694842 abstract "ObjectiveThe objective of the study was to perform first-trimester maternal serum metabolomic analysis and compare the results in aneuploid vs Down syndrome (DS) pregnancies.Study DesignThis was a case-control study of pregnancies between 11+0 and 13+6 weeks. There were 30 DS cases and 60 controls in which first-trimester maternal serum was analyzed. Nuclear magnetic resonance-based metabolomic analysis was performed for DS prediction.ResultsConcentrations of 11 metabolites were significantly different in the serum of DS pregnancies. The combination of 3-hydroxyisovalerate, 3-hydroxybuterate, and maternal age had a 51.9% sensitivity at 1.9% false-positive rate for DS detection. One multimarker algorithm had 70% sensitivity at 1.7% false-positive rate. Novel markers such as 3-hydroxybutyrate, involved in brain growth and myelination, and 2-hydroxybutyrate, involved in the defense against oxidative stress, were found to be abnormal.ConclusionThe study reports novel metabolomic markers for the first-trimester prediction of fetal DS. Metabolomics provided insights into the cellular dysfunction in DS. The objective of the study was to perform first-trimester maternal serum metabolomic analysis and compare the results in aneuploid vs Down syndrome (DS) pregnancies. This was a case-control study of pregnancies between 11+0 and 13+6 weeks. There were 30 DS cases and 60 controls in which first-trimester maternal serum was analyzed. Nuclear magnetic resonance-based metabolomic analysis was performed for DS prediction. Concentrations of 11 metabolites were significantly different in the serum of DS pregnancies. The combination of 3-hydroxyisovalerate, 3-hydroxybuterate, and maternal age had a 51.9% sensitivity at 1.9% false-positive rate for DS detection. One multimarker algorithm had 70% sensitivity at 1.7% false-positive rate. Novel markers such as 3-hydroxybutyrate, involved in brain growth and myelination, and 2-hydroxybutyrate, involved in the defense against oxidative stress, were found to be abnormal. The study reports novel metabolomic markers for the first-trimester prediction of fetal DS. Metabolomics provided insights into the cellular dysfunction in DS." @default.
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• W2004694842 date "2013-05-01" @default.
• W2004694842 modified "2023-10-16" @default.
• W2004694842 title "Metabolomic analysis for first-trimester Down syndrome prediction" @default.
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• W2004694842 doi "https://doi.org/10.1016/j.ajog.2012.12.035" @default.
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