The Significance of Apolipoprotein E Measurement in the Screening of Fetal Down Syndrome

Abstract

Prenatal screening for Down syndrome (DS) is based on both noninvasive and invasive methods. Noninvasive, cell-free fetal DNA genetic tests are expensive, whereas biochemical methods remain imprecise. Amniocentesis is the most frequently used invasive diagnosis procedure, characterized by 99.8% diagnostic efficiency and less than 1% risk of miscarriage. The aim of this study was to evaluate the screening value of apolipoprotein E (ApoE) as a potential noninvasive biomarker for prenatal DS assessment. This study was conducted on a group of female patients who decided to undergo routine amniocentesis between the 15th and 18th week of pregnancy at the Department of Reproduction and Gynecological Endocrinology of the Medical University of Bialystok, Poland. For the purpose of this study, 20 women with DS fetuses were selected as the study group, and 20 healthy pregnant women with euploid fetus karyotypes as the control group. The plasma levels of ApoE were significantly higher in the study group compared to healthy subjects (p < 0.05). The area under the receiver operating characteristic (ROC) curve was 0.978 (p < 0.001), with the cut-off set to 1.37 mg/mL, which was characterized by 80% of sensitivity and 100% of specificity. The high sensitivity and specificity demonstrate the screening utility of maternal ApoE concentration in prenatal fetal DS screening.

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

“…The increased risk of chromosomal aberrations in noninvasive prenatal screening and an age greater than 35 years were indications for amniocentesis. Chronic or acute diseases, hormonal treatment, anti-inflammatory treatment, high-risk pregnancy, and preterm delivery in the patient's medical history were the exclusion criteria [19]. All participants were aware of the potential risks prior to the amniocentesis procedure and received relevant and necessary information about the study.…”

Novel Approaches to an Integrated Route for Trisomy 21 Evaluation

“…Furthermore, the screening utility was proved by AUC = 0.978, with the cut-off point set at 1.37 mg/mL. This T21 screening marker was characterized by 80% sensitivity and 100% specificity [ 9 ].…”

“…Therefore, it is still important to find a cost-effective and noninvasive screening method for biomarker discovery characterized by high sensitivity and specificity, which would provide certain benefits, subsequently leading to the evaluation of novel medical targets. In this case, the application of novel biochemical screening markers, determined using specific novel techniques, may lead to a reduction in unnecessary invasive procedures [ 9 ].…”

Apolipoprotein E Gene Polymorphism Effects on Lipid Metabolism and Risk of Cerebral Infarction in Northwest Han Chinese Population

“…Recently, mounting evidence indicates that ApoE is a candidate gene in the development of CI. ApoE is an arginine-rich alkaline protein, which is present in plasma chylomicron, low-density lipoprotein and very low-density lipoprotein [4]. In humans, the APOE gene is located at chromosome 19q13.2 and is also found to be extensively expressed in the brain.…”

“…Genotypes were also determined for the two functional single nucleotide polymorphisms (SNPs) rs429358 (388T > C) and rs7412 (526C > T), resulting in three different alleles (ε2, ε3 and ε4) and six different genotypes (ε2/ε2, ε2/ε3, ε2/ε4, ε3/ε3, ε3/ε4 and ε4/ ε4). ApoE plays an important role in cholesterol transport, plasma lipoprotein metabolism and thus affects the serum lipid pro les in the body [4]. Several studies indicate that ε4 allele was associated with signi cantly higher serum TC and LDL-C and it thereby contributes to the increasing burden of cardiovascular diseases, including CI [5].…”