Prenatal Screening of Trisomy 21: Could Oxidative Stress Markers Play a Role?

Abstract

Despite significant progress in trisomy 21 (T21) diagnostic tools, amniocentesis is still used for the confirmation of an abnormal fetal karyotype. Invasive tests carry the potential risk of miscarriage; thus, screening biomarkers are commonly used before undergoing invasive procedures. In our study, we investigated the possible application of oxidative stress markers in the prenatal screening of trisomy 21. The DNA/RNA oxidative stress damage products (OSDPs), advanced glycation end (AGE) products, ischemia-modified albumin (IMA), alfa-1-antitrypsin (A1AT), asprosin, and vitamin D concentrations were measured in both maternal plasma and amniotic fluid in trisomy 21 (T21) and euploid pregnancies. The obtained results indicated increased levels of DNA/RNA OSDPs and asprosin with simultaneous decreased levels of vitamin D and A1AT in the study group. The diagnostic utility of the plasma measurement based on the area under the received operative characteristic (ROC) curve (AUC) calculation of asprosin (AUC = 0.965), IMA (AUC = 0.880), AGE (AUC = 0.846) and DNA/RNA OSDPs (AUC = 0.506) in T21 screening was demonstrated. The obtained results indicate a potential role for the application of oxidative stress markers in the prenatal screening of T21 with the highest screening utility of plasma asprosin.

Future Perspectives in Oxidative Stress in Trisomy 13 and 18 Evaluation

“…Concluding, ApoA1 plays a meaningful role in the pathogenesis of ES. A1AT is involved in the protection of neurons and glial cells from oxygen and glucose deprivation [ 55 ]. VDBP is an important component of many biochemical processes, including the transport of vitamin D and its metabolites, ensuring proper homeostasis.…”

“…We strongly believe that comprehensive and extensive research can lead to a better understanding of trisomy-related comorbidities and the corresponding phenotypes [ 95 ]. In the following section, future perspectives are highlighted for T13 and T18 investigations in connection with T21 pathogenesis [ 47 , 55 , 96 , 97 , 98 , 99 , 100 ]. It is worth noting that an in vitro model for the study of trisomies other than T21 has not been reported in the literature.…”

“…Following the promising results obtained in a T21 group based on an in vivo study, possible strategies to restore mitochondrial function and, therefore, to exert protective effects against the impact of increased oxidative stress on trisomy-associated pathologies can be discussed [ 28 ]. Thus, it can be assumed that oxidative stress is one of the leading causes of comorbidities in patients with T13 and T18 [ 55 ].…”

“…Notably, studies concerning T13 and T18 demonstrating metabolic changes closely related to oxidative stress have been performed [ 8 , 160 ]. Thus, it can be hypothesized that oxidative stress is one of the leading causes of comorbidities in patients with T13 and T18 [ 55 ]. As the pathogenic changes generated by trisomy are unknown, since the currently available methods and research models are insufficient, assessing the effects of trisomy, including the effects of oxidative stress on homeostasis, is of utmost importance [ 30 , 41 ].…”

Novel Approaches to an Integrated Route for Trisomy 21 Evaluation

“…The results suggest that the decrease in A1AT concentration combined with aggravated inflammation processes and oxidative stress observed in T21 pregnancies may negatively impact multiple comorbidities and the occurrence of fetal malformations. The proposed novel T21 screening markers are characterized in Table 4 [ 101 ].…”