Metabolomics Analysis of Amniotic Fluid in Euploid Foetuses with Thickened Nuchal Translucency by Gas Chromatography-Mass Spectrometry

Abstract

Persistence of a fetal thickened nuchal translucency (NT), one of the most sensitive and specific individual markers of fetal disorders, is strongly correlated with the possibility of a genetic syndrome, congenital infections, or other malformations. Thickened NT can also be found in normal pregnancies. Several of its pathophysiological aspects still remain unexplained. Metabolomics could offer a fresh opportunity to explore maternal–foetal metabolism in an effort to explain its physiological and pathological mechanisms. For this prospective case-control pilot study, thirty-nine samples of amniotic fluids were collected, divisible into 12 euploid foetuses with an enlarged nuchal translucency (>NT) and 27 controls (C). Samples were analyzed using gas chromatography mass spectrometry. Multivariate and univariate statistical analyses were performed to find a specific metabolic pattern of >NT class. The correlation between the metabolic profile and clinical parameters was evaluated (NT showed an R2 = 0.75, foetal crown-rump length showed R2 = 0.65, pregnancy associated plasma protein-A showed R2 = 0.60). Nine metabolites significantly differing between >NT foetuses and C were detected: 2-hydroxybutyric acid, 3-hydroxybutyric, 1,5 Anydro-Sorbitol, cholesterol, erythronic acid, fructose, malic acid, threitol, and threonine, which were linked to altered pathways involved in altered energetic pathways. Through the metabolomics approach, it was possible to identify a specific metabolic fingerprint of the fetuses with >NT.

Metabolomic Profiling of Second-Trimester Amniotic Fluid for Predicting Preterm Delivery: Insights from NMR Analysis

“…Moreover, the reduced feature space (n = 94) was subjected to biomarker analysis considering the area under the ROC curve (AUROC) and the p values promoting potential biomarkers with a good predictive ability and strong statistical significance (AUROC > 0.75 and p < 0.05). These values are in accordance with the literature [10,20].…”

Changes in intracapsular fluid nutritional composition during the early development of the marine gastropod Hemifusus tuba Gmelin

“…The intracapsular fluid was placed in a 5.0‐ml microcentrifuge (Eppendorf) tube, preserved in liquid nitrogen, and stored at −80℃. Samples were then thawed and centrifuged at 2500 × g for 5–10 min, and only the upper layer of the supernatant was retained before measuring biochemical components (Murgia et al, 2021; Witkin et al, 2012).…”