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

Zeitschrift fur Geburtshilfe und Neonatologie · Ocak 2019

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YÖKSİS Kayıtları
Metabolic Infrastructure of Pregnant Women With Trisomy 21 Fetuses Metabolomic Analysis
Zeitschrift für Geburtshilfe und Neonatologie · 2019 SCI-Expanded
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Makale Bilgileri

DergiZeitschrift fur Geburtshilfe und Neonatologie
Yayın TarihiOcak 2019
Cilt / Sayfa223 · 297-303
Özet 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.

Yazarlar (9)

1
Emirhan Nemutlu
ORCID: 0000-0002-7337-6215
2
Gökçen Örgül
ORCID: 0000-0003-0578-4230
3
Tuba Recber
ORCID: 0000-0001-8257-7628
4
Emine Aydın
ORCID: 0000-0001-8877-2803
5
Ece Ozkan
6
Mert Turgal
7
Mehmet Alikasifoglu
8
Sedef Kır
ORCID: 0000-0003-1322-1665
9
Mehmet Sinan Beksaç
ORCID: 0000-0001-6362-787X

Anahtar Kelimeler

Down syndrome Gas Chromatography-Mass Spectrometry Liquid Chromatography-Mass Spectrometry Metabolomics

Kurumlar

Hacettepe Üniversitesi
Ankara Turkey

Metrikler

20
Atıf
9
Yazar
4
Anahtar Kelime

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