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Metabolomic Prediction of Fetal Congenital Heart Defect in the First Trimester.
MedLine Citation:
PMID:  24704061     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
OBJECTIVE: To identify metabolomic markers in maternal first-trimester serum for the detection of fetal congenital heart defects (CHD).
STUDY DESIGN: Mass spectrometry (Direct Injection (DI)/LC-MS/MS) and nuclear magnetic resonance spectrometry (NMR) based metabolomic analyses were performed between 11 weeks and 13 weeks 6 days gestation on maternal serum. A total of 27 CHD cases and 59 controls were compared. There were no known or suspected chromosomal or syndromic abnormalities indicated.
RESULTS: A total of 174 metabolites were identified and quantified using the two analytical methods. There were 14 overlapping metabolites between platforms. We identified 123 metabolites that demonstrated significant differences on univariate analysis in maternal first-trimester serum in CHD versus normal cases. There was significant disturbance in acylcarnitine, sphingomyelin and other metabolite levels in CHD pregnancies. Predictive algorithms were developed for CHD detection. High sensitivity (95% CI) = 0.929 (0.92, 1.00) and specificity (95% CI) = 0.932 (0.78, 1.00) for CHD detection was achieved, AUC (95% CI) = 0.992 (0.973, 1.0).
CONCLUSION: In the first such report we demonstrated the feasibility of use of metabolomics developing biomarkers for the first-trimester prediction of CHD. Abnormal lipid metabolism appeared to be significant feature of CHD pregnancies.
Authors:
Ray O Bahado-Singh; Rebecca Ertl; Rupasri Mandal; Trent C Bjorndahl; Argyro Syngelaki; Beomsoo Han; Edison Dong; Philip B Liu; Zeynep Alpay-Savasan; David S Wishart; Kypros H Nicolaides
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2014-4-1
Journal Detail:
Title:  American journal of obstetrics and gynecology     Volume:  -     ISSN:  1097-6868     ISO Abbreviation:  Am. J. Obstet. Gynecol.     Publication Date:  2014 Apr 
Date Detail:
Created Date:  2014-4-7     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 © 2014 Mosby, Inc. All rights reserved.
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