Abstract
We aimed to configure impaired/altered metabolomic profiles of pregnant women carrying
Down syndrome (DS) fetuses. The study involved 21 and 32 pregnant women with DS and
euploid fetuses, respectively, as determined by prenatal screening and diagnosis as
part of an antenatal care program. Metabolomic analyses were carried out using gas
chromatography-mass spectrometry (GC-MS) and liquid chromatography-quadrupole time-of-flight
mass spectrometry (LC-qTOF-MS) methods. A total of 95 metabolites were identified.
GC-MS analysis indicated that levels of 2-hydroxybutyric acid, benzoic acid, nonanoic
acid, 3-hydroxybutyric acid, and 2-ketoisocaproic acid were increased in the DS group,
where beta-alanine, threonic acid, oxalic acid, alpha-tocopherol, uracil, 2-piperidone,
and creatinine were decreased. However, LC-qTOF-MS analysis showed that lipid-related
metabolites were decreased in women carrying DS fetuses, whereas creatine, N4-phosphoagmatine,
citrate, 2,5-dioxopentanoate, 2-furoate, pyruvate, and fructose levels were increased.
Pathway analysis was also performed using metabolites whose levels were significantly
altered (p<0.05) between the groups, and the findings indicated that the biosynthesis
pathways of aminoacyl-tRNA and “valine-leucine-isoleucine”, and metabolism pathways
of “glycine-serine-threonine”, nitrogen, “alanine-aspartate-glutamate”, propanoate,
glycerophospholipid, cysteine, methionine, and phenylalanine were significantly altered.
Our findings indicate a special type of metabolic status/syndrome in pregnant women
with Down syndrome fetuses. It could be speculated that altered metabolic status might
influence both gametogenesis and embryogenesis. Down syndrome is a complex genetic
disorder that is important to detect prenatally, but may also be prevented by taking
necessary precautions prior to pregnancy.
Key words
Down syndrome - Gas Chromatography-Mass Spectrometry - Liquid Chromatography-Mass
Spectrometry - Metabolomics
