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Am J Obstet Gynecol. 2014 Sep;211(3):240.e1-240.e14. doi: 10.1016/j.ajog.2014.03.056. Epub 2014 Apr 1.

Metabolomic prediction of fetal congenital heart defect in the first trimester.

Author information

1
Department of Obstetrics and Gynecology, William Beaumont School of Medicine, Oakland University, Royal Oak, MI. Electronic address: raybahado-singh@beaumont.edu.
2
Harris Birthright Research Center for Fetal Medicine, King's College Hospital, London, England, UK.
3
Department of Biological Sciences, Faculty of Science, University of Alberta, Edmonton, AB, Canada.
4
Department of Computing Science, Faculty of Science, University of Alberta, Edmonton, AB, Canada.
5
Department of Obstetrics and Gynecology, William Beaumont School of Medicine, Oakland University, Royal Oak, MI.
6
Department of Biological Sciences, Faculty of Science, University of Alberta, Edmonton, AB, Canada; Department of Computing Science, Faculty of Science, University of Alberta, Edmonton, AB, Canada.

Abstract

OBJECTIVE:

The objective of the study was to identify metabolomic markers in maternal first-trimester serum for the detection of fetal congenital heart defects (CHDs).

STUDY DESIGN:

Mass spectrometry (direct injection/liquid chromatography and tandem mass spectrometry) and nuclear magnetic resonance spectrometry-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 2 analytical methods. There were 14 overlapping metabolites between platforms. We identified 123 metabolites that demonstrated significant differences on a univariate analysis in maternal first-trimester serum in CHD vs normal cases. There was a significant disturbance in acylcarnitine, sphingomyelin, and other metabolite levels in CHD pregnancies. Predictive algorithms were developed for CHD detection. High sensitivity (0.929; 95% confidence interval [CI], 0.92-1.00) and specificity (0.932; 95% CI, 0.78-1.00) for CHD detection were achieved (area under the curve, 0.992; 95% CI, 0.973-1.0).

CONCLUSION:

In the first such report, we demonstrated the feasibility of the use of metabolomic developing biomarkers for the first-trimester prediction of CHD. Abnormal lipid metabolism appeared to be a significant feature of CHD pregnancies.

KEYWORDS:

congenital heart defects; maternal first-trimester serum; metabolomic markers

PMID:
24704061
DOI:
10.1016/j.ajog.2014.03.056
[Indexed for MEDLINE]

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