Abstract
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.
Highlights
Trisomy 21 (T21), known as Down syndrome, is one of the most frequently occurring chromosomal aberrations, appearing in 1 in 319 to 1 in 1000 live births [1]
The prenatal screening for T21 is currently based on noninvasive methods, which enable the estimation of the risk of its occurrence, and invasive techniques, mainly used to verify the presence of chromosomal aberrations
A study by Vossaert et al has demonstrated no significant correlation between maternal age, body mass index, and trophoblast yield of single circulating trophoblast testing, which proves the advantage over cell-free fetal DNA (cffDNA) testing [43]
Summary
Trisomy 21 (T21), known as Down syndrome, is one of the most frequently occurring chromosomal aberrations, appearing in 1 in 319 to 1 in 1000 live births [1]. The most frequently diagnosed duplication of chromosome 21 as a result of the abnormal nondisjunction of chromosomes occurs in an estimated 95% of cases, and the remaining. The prenatal screening for T21 is currently based on noninvasive methods, which enable the estimation of the risk of its occurrence, and invasive techniques, mainly used to verify the presence of chromosomal aberrations. Serum screening and ultrasound are used to identify women whose pregnancies are at a high risk of chromosomal abnormalities
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