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.
Highlights
Genetic screening and invasive prenatal diagnosis paradigms have been profoundly modified in the last 30 years owing to the introduction of innovative technologies and improved operator skills [1]
Thirty-nine samples of amniotic fluid were analysed with gas chromatography-mass spectrometry (GC-MS), divisible into 12
Thirty-nine samples of amniotic fluid were analysed with GC-MS, divisible into patients with an enlarged nuchal translucency (>NT) and 27 controls (C)
Summary
Genetic screening and invasive prenatal diagnosis paradigms have been profoundly modified in the last 30 years owing to the introduction of innovative technologies and improved operator skills [1]. Novel approaches to ultrasound and biochemical screening, the detection of foetal abnormalities, reducing foetal loss risk following invasive prenatal procedures, and increasing the accuracy of molecular analysis are in continuous development [1,2,3]. Among contemporary developments is the rapid diffusion of non-invasive prenatal screening (NIPS), using foetal cell-free DNA (cfDNA) obtained from maternal blood, as a diagnostic technique for aneuploidies [2]. First trimester combined screening, which is performed between 11 and 13+6 weeks of gestation by calculating the risk of aneuploidies using maternal age, ultrasound foetal nuchal translucency (NT) thickness, foetal heart rate (FHR), maternal serum-free ß-human chorionic gonadotropin (ß-hCG), and pregnancy associated plasma protein-A (PAPP-A), is still of paramount importance for risk assessment in pregnancy [6]. The thickened NT represents one of the most sensitive and specific individual markers of aneuploidy, structural defects, biometric discrepancies, and deviations from normal anatomy [9]
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