Metabolomic analysis for first-trimester trisomy 18 detection

Am J Obstet Gynecol. 2013 Jul;209(1):65.e1-9. doi: 10.1016/j.ajog.2013.03.028. Epub 2013 Mar 25.


Objective: The purpose of this study was to determine whether nuclear magnetic resonance-based metabolomic markers in first-trimester maternal serum can detect fetuses with trisomy 18.

Study design: This was a study of pregnancies between 11 weeks and 13 weeks 6 days' gestation. We analyzed 30 cases of trisomy 18 and a total of 114 euploid cases. Nuclear magnetic resonance-based metabolomic analysis was performed. A further analysis was performed that compared 30 cases with trisomy 18 and 30 trisomy 21 (T21) cases.

Results: Metabolomic markers were sensitive for trisomy 18 detection. A combination of 2-hydroxybutyrate, glycerol and maternal age had a 73.3% sensitivity and 96.6% specificity for trisomy 18 detection, with an area under the receiver operating curve: 0.92 (P < .001). Other metabolite markers, which include trimethylamine, were sensitive for distinguishing trisomy 18 from T21 cases.

Conclusion: This is the first report of prenatal trisomy 18 detection that has been based on metabolomic analysis. Preliminary results suggest that such markers are sensitive not only for the detection of fetal trisomy 18 but also for distinguishing this aneuploidy from T21.

Keywords: metabolomics; screening; trisomy 18.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Area Under Curve
  • Biomarkers / blood
  • Chromosomes, Human, Pair 18
  • Down Syndrome / diagnosis*
  • Female
  • Humans
  • Metabolomics / instrumentation
  • Metabolomics / methods*
  • Nuchal Translucency Measurement / methods
  • Pregnancy
  • Pregnancy Trimester, First / blood*
  • Prenatal Diagnosis / methods*
  • Principal Component Analysis
  • Sensitivity and Specificity
  • Trisomy / diagnosis*


  • Biomarkers

Supplementary concepts

  • Chromosome 18, trisomy 18p