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Z Geburtshilfe Neonatol 2019; 223(05): 297-303
DOI: 10.1055/a-0877-7869
Original Article
© Georg Thieme Verlag KG Stuttgart · New York

Metabolic Infrastructure of Pregnant Women With Trisomy 21 Fetuses; Metabolomic Analysis

Emirhan Nemutlu
1   Hacettepe University, Faculty of Pharmacy, Department of Analytical Chemistry, Ankara, Turkey
,
Gokcen Orgul
2   Hacettepe University Faculty of Medicine, Department of Obstetrics and Gynecology, Division of Perinatology, Ankara, Turkey
,
Tuba Recber
1   Hacettepe University, Faculty of Pharmacy, Department of Analytical Chemistry, Ankara, Turkey
,
Emine Aydin
2   Hacettepe University Faculty of Medicine, Department of Obstetrics and Gynecology, Division of Perinatology, Ankara, Turkey
,
Ece Ozkan
1   Hacettepe University, Faculty of Pharmacy, Department of Analytical Chemistry, Ankara, Turkey
,
Mert Turgal
2   Hacettepe University Faculty of Medicine, Department of Obstetrics and Gynecology, Division of Perinatology, Ankara, Turkey
,
Mehmet Alikasifoglu
3   Hacettepe University Faculty of Medicine, Department of Medical Genetics, Ankara, Turkey
,
Sedef Kir
1   Hacettepe University, Faculty of Pharmacy, Department of Analytical Chemistry, Ankara, Turkey
,
Mehmet Sinan Beksac
2   Hacettepe University Faculty of Medicine, Department of Obstetrics and Gynecology, Division of Perinatology, Ankara, Turkey
› Author Affiliations
Further Information

Publication History

received 14 January 2019

accepted 08 March 2019

Publication Date:
27 May 2019 (online)

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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

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