Metabolomic analysis for first-trimester Down syndrome prediction - 24/04/13
Résumé |
Objective |
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.
Study Design |
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.
Results |
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.
Conclusion |
The study reports novel metabolomic markers for the first-trimester prediction of fetal DS. Metabolomics provided insights into the cellular dysfunction in DS.
Le texte complet de cet article est disponible en PDF.Key words : Down syndrome screening, metabolomics
Plan
| This study was supported in part by a grant from the Fetal Medicine Foundation, charity number 1037116. |
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| The authors report no conflict of interest. |
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| Reprints not available from the authors. |
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| Cite this article as: Bahado-Singh RO, Akolekar R, Mandal R, et al. Metabolomic analysis for first-trimester Down syndrome prediction. Am J Obstet Gynecol 2013;208:371.e1-8. |
Vol 208 - N° 5
P. 371.e1-371.e8 - mai 2013 Retour au numéro
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