Document Detail

Metabolomic Analysis for First-Trimester Down Syndrome Prediction.
MedLine Citation:
PMID:  23313728     Owner:  NLM     Status:  Publisher    
OBJECTIVE: To perform first trimester maternal serum metabolomic analysis and compare results in aneuploid versus 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. NMR 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 multi-marker 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.
Ray O Bahado-Singh; Ranjit Akolekar; Rupasri Mandal; Edison Dong; Jianguo Xia; Michael Kruger; David S Wishart; Kypros Nicolaides
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-1-8
Journal Detail:
Title:  American journal of obstetrics and gynecology     Volume:  -     ISSN:  1097-6868     ISO Abbreviation:  Am. J. Obstet. Gynecol.     Publication Date:  2013 Jan 
Date Detail:
Created Date:  2013-1-14     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0370476     Medline TA:  Am J Obstet Gynecol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2013 Mosby, Inc. All rights reserved.
Department of Obstetrics and Gynecology, Wayne State University, MI, USA. Electronic address:
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