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Maternal plasma metabolic fingerprint indicative for fetal Down syndrome
Author(s) -
Parfieniuk Ewa,
Samczuk Paulina,
Kowalczyk Tomasz,
Pietrowska Karolina,
Niemira Magdalena,
PaczkowskaAbdulsalam Magdalena,
Wolczynski Slawomir,
Kretowski Adam,
Ciborowski Michal,
ZbuckaKretowska Monika
Publication year - 2018
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.5345
Subject(s) - fetus , medicine , metabolomics , metabolic syndrome , metabolome , prenatal diagnosis , endocrinology , pregnancy , metabolite , physiology , biology , bioinformatics , obesity , genetics
Objective The objective of the study was to perform maternal plasma metabolic fingerprinting to evaluate differences in plasma metabolites between healthy and Down syndrome (DS) pregnancies and to indicate novel non‐invasive markers for DS prenatal diagnostics. Methods This was a case‐control study of pregnancies between 15th and 18th gestational week. LC‐MS–based metabolic fingerprinting of plasma samples was performed. Results Levels of five metabolites were significantly lower in the plasma of DS pregnancies. The majority of the statistically significant metabolites may be connected with fetal brain and central nervous system development (eg, fatty acid amides). According to the receiver operating characteristic (ROC), the combination of linoleamide and piperine has the highest diagnostic potential: area under the curve (AUC) = 0.878, sensitivity of 100%, and specificity of 73.3%. Conclusions 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.