Maternal plasma metabolic fingerprint indicative for fetal Down syndrome

Parfieniuk, Ewa; Samczuk, Paulina; Kowalczyk, Tomasz; Pietrowska, Karolina; Niemira, Magdalena; Paczkowska-Abdulsalam, Magdalena; Wołczyński, S; Krętowski, Adam; Ciborowski, Michał; Zbucka-Krętowska, Monika

doi:10.1002/pd.5345

Cited by 4 publications

(9 citation statements)

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“…To date, alterations in metabolic pathways evoked by foetal DS have been studied with the metabolomic approach using, primarily, maternal blood or urine samples [3,6,9,10,17]. Therefore, data obtained from our analysis of AF sam-ples may complement previous reports on the subject.…”

Section: Discussionmentioning

confidence: 85%

“…The newest "omics" technologies may serve as potentially useful tools in providing an explanation of molecular mechanisms leading from chromosomal aberration to observed malformations [3]. Metabolomics, in particular, which aims to measure all small molecules below 1000 Da, is a powerful tool, as it shows the current status of an organism.…”

Section: Introductionmentioning

confidence: 99%

“…In the case of research on human beings, it is commonly used to compare individuals affected by a studied parameter (e.g. disease or treatment) with an appropriate control group [3]. Observed changes provide a comprehensive view of alterations in the metabolome caused by the studied factor.…”

Section: Introductionmentioning

confidence: 99%

“…Metabolomics has previously been used to evaluate mechanisms which are the basis of impaired development of a foetus with DS or to find new indicators which may improve the prenatal diagnostic process [3,[6][7][8][9][10]. Maternal blood has been analysed using LC-MS [3] and NMR [6]. A panel of fatty amides (palmitic amide, linoleamide and oleamide), which can be connected with foetal brain and central nervous system development, discriminated DS-affected maternal plasma from the plasma of healthy pregnant women [3].…”

Section: Introductionmentioning

confidence: 99%

“…Maternal blood has been analysed using LC-MS [3] and NMR [6]. A panel of fatty amides (palmitic amide, linoleamide and oleamide), which can be connected with foetal brain and central nervous system development, discriminated DS-affected maternal plasma from the plasma of healthy pregnant women [3]. In a similar study performed with the use of NMR, Bahado-Singh et al found that 2-hydroxybutyrate, 3-hydroxybutyrate, 2-hydroxyisovalerate, acetamide, acetone, carnitine, lactate, pyruvate and L-methylhistidine were increased while dimethylamine and methionine were decreased in the plasma of women with a DS-affected pregnancy [6].…”

Section: Introductionmentioning

confidence: 99%

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Amniotic fluid metabolic fingerprinting indicated metabolites which may play a role in the pathogenesis of foetal Down syndrome — a preliminary report

et al. 2021

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Objectives: Down syndrome is the most common human chromosomal aberration. It is commonly known that it is a genetic-based disease, but still, pathomechanisms which lead to observed disorders have not been explained. The objective of this study was to determine the metabolic fingerprinting of the amniotic fluid women carrying foetuses with Down syndrome (DS). Material and methods: The study and control groups consisted of women who underwent routine amniocentesis between the 15 th and 18 th week of gestation. After analysis of the karyotyping results, 13 women with foetal DS were chosen. For the control group, 13 healthy patients with uncomplicated pregnancies who delivered healthy newborns at term was selected. Amniotic fluid was analyzed using liquid chromatography combined with high resolution mass spectrometry. Results: In the amniotic fluid of women with foetal DS compared to patients with healthy foetuses, we reported significant differences in the level of four metabolites: methylhistidine, hexanoylcarnitine, diacetylspermine and p-cresol sulfate which may be connected with improper development of nervous system and muscles. We detected bacterial metabolite, which support the latest thesis about non-sterile intrauterine environment. Conclusions: Based on our findings, we hypothesise that differences in the level of four metabolites in the amniotic fluid may play role in the pathogenesis of DS. Defining their potential as biochemical pathogenic factors of DS requires further investigation of the biological pathways involving in the foetal development.

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Section: Discussionmentioning

confidence: 85%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Amniotic fluid metabolic fingerprinting indicated metabolites which may play a role in the pathogenesis of foetal Down syndrome — a preliminary report

et al. 2021

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The Role of Oxidative Stress in Trisomy 21 Phenotype

Buczyńska,

Sidorkiewicz,

Krętowski

et al. 2023

Cell Mol Neurobiol

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Extensive research has been conducted to gain a deeper understanding of the deregulated metabolic pathways in the development of trisomy 21 (T21) or Down syndrome. This research has shed light on the hypothesis that oxidative stress plays a significant role in the manifestation of the T21 phenotype. Although in vivo studies have shown promising results in mitigating the detrimental effects of oxidative stress, there is currently a lack of introduced antioxidant treatment options targeting cognitive impairments associated with T21. To address this gap, a comprehensive literature review was conducted to provide an updated overview of the involvement of oxidative stress in T21. The review aimed to summarize the insights into the pathogenesis of the Down syndrome phenotype and present the findings of recent innovative research that focuses on improving cognitive function in T21 through various antioxidant interventions. By examining the existing literature, this research seeks to provide a holistic understanding of the role oxidative stress plays in the development of T21 and to explore novel approaches that target multiple aspects of antioxidant intervention to improve cognitive function in individuals with Down syndrome. Graphical Abstract The guides -base systematic review process (Hutton et al. 2015).

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Novel Approaches to an Integrated Route for Trisomy 21 Evaluation

et al. 2021

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Trisomy 21 (T21) is one of the most commonly occurring genetic disorders, caused by the partial or complete triplication of chromosome 21. Despite the significant progress in the diagnostic tools applied for prenatal screening, commonly used methods are still imprecise and involve invasive diagnostic procedures that are related to a maternal risk of miscarriage. In this case, novel prenatal biomarkers are still being evaluated using highly specialized techniques, which could increase the diagnostic usefulness of biochemical prenatal screening for T21. From the other hand, the T21′s pathogenesis, caused by the improper division of genetic material, disrupting many metabolic pathways, could be further evaluated with the use of omics methods, which could result in bringing relevant insights for the evaluation of potential medical targets. Accordingly, a literature search was undertaken to collect novel information about prenatal screening for Down syndrome with the use of advanced technology, with a particular emphasis on the evaluation of novel screening biomarkers and the discovery of potential medical targets. These meta-analyses are focused on novel approaches designed with the use of omics techniques, representing the most rapidly developing and promising field in research today. Considering the limitations and progress of these methods, the use of omics techniques in evaluating T21 pathogenesis could bring beneficial results in prenatal screening, simultaneously uncovering novel potential medical targets.

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Maternal plasma metabolic fingerprint indicative for fetal Down syndrome

Abstract: The study indicates disturbances in maternal metabolic pathways evoked by fetal DS. Novel potential maternal plasma metabolomic markers for non-invasive prenatal diagnostics of fetal DS are proposed.

Cited by 4 publications

References 43 publications

Amniotic fluid metabolic fingerprinting indicated metabolites which may play a role in the pathogenesis of foetal Down syndrome — a preliminary report

Amniotic fluid metabolic fingerprinting indicated metabolites which may play a role in the pathogenesis of foetal Down syndrome — a preliminary report

The Role of Oxidative Stress in Trisomy 21 Phenotype

Novel Approaches to an Integrated Route for Trisomy 21 Evaluation

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