Browsing by Author "Stamenkovic, Jelena (54414801300)"

The aim of the present study was to analyze the distribution of genotypes and haplotypes of functional eNOS gene polymorphisms in the promoter (−786 T/C), intron 4 (VNTR4b/a) and exon 7 (894 G/T), in Serbian population of pregnant women, and establish a possible association between these polymorphisms and preeclampsia development. DNA was isolated from venous blood samples of 50 heathy pregnant women and 50 preeclampsia patients. Polymerase Chain Reaction/Restriction Fragment Length Polymorphism (PCR/RFLP) technique, with appropriate sets of primers and specific restriction enzymes, was used to determine polymorphisms in eNOS gene. Statistical analysis was done using the SPSS and HAPLOVIEW software packages. eNOS −786 T/C polymorphism was significantly associated with preeclampsia (P = 0.006). Homozygotes for the VNTR polymorphism had also an elevated risk of developing preeclampsia (OR=7.68, 95%CI (0.89–65.98)), especially the mild (OR=9.33, 95%CI (0.98–88.57)) and late form (OR=8.52, 95%CI (0.90–80.58)). The 894 G/T polymorphism was not associated with preeclampsia. “G-C-b” and “T-4a-T” haplotypes were more frequent in preeclampsia, though without reaching statistical significance. −786 T/C and VNTR 4b/a eNOS gene polymorphisms were associated with preeclampsia risk in Serbian patients. © 2021, Society for Reproductive Investigation.

Objective Fetuses with abnormal karyotypes often exhibit distinctive ultrasonographic markers, including major anomalies and "soft" markers, indicating potential chromosomal issues. A crucial consideration arises when a single fetal anomaly is detected, raising the question of whether karyotyping is warranted, given the associated procedural risks. Our objective was to establish correlations between single fetal anomalies identified through ultrasound and chromosomal abnormalities. Methods A cross-sectional study analyzed the karyotype of 1493 fetuses and detected a single ultrasonographic anomaly over a 16-year period. Karyotyping was performed using the standard karyotype technique. Moreover, data regarding the type of anomaly detected ultrasonographically, karyotype results, and outcomes following interventions were collected. Among other methods, the use of positive likelihood ratios (LR+) was used to evaluate the diagnostic accuracy of ultrasound compared to karyotyping. Results In total, an aberrant karyotype was identified in 99 fetuses (6.6%). This was most commonly observed in cases involving a "soft" marker, occurring in 27 out of 218 fetuses (12.4%). The most frequently detected aberrant karyotype resulted from aneuploidies (80.6% of cases), notably trisomy 21 (50.5%). "Soft" markers predicted chromosomal issues (LR+ = 1.9; OR = 2.4), and isolated polyhydramnios (LR+ = 1.54; OR = 1.6) showed significance in predicting fetal chromosomal aberrations. Conclusion When assessing the necessity for karyotyping in fetuses with single major anomalies or "soft" markers, it is crucial to consider individual risks for chromosomopathies, including the LR+ of the detected marker. In cases where fetuses exhibit isolated anomalies with a normal karyotype, additional diagnostic measures, such as molecular cytogenetic and molecular genetics techniques, may become necessary. © 2024 Lippincott Williams and Wilkins. All rights reserved.