Diagnosis of fetal defects in twin pregnancies at routine 11-13-week ultrasound examination

Objective: To examine the performance of the routine 11-13 weeks scan in detecting fetal defects in twin pregnancies and to examine if in pregnancies with fetal defects, compared to those with normal fetuses, there is increased incidence of nuchal translucency (NT) thickness ≥95th and ≥99th percentiles or intertwin discordance in crown-rump length (CRL) ≥10% and ≥15%. Methods: This was a retrospective analysis of prospectively collected data in twin pregnancies undergoing routine ultrasound examination for fetal anatomy, according to standardized protocols, at 11-13 weeks’ gestation between 2002 and 2019. Pregnancies with known chromosomal abnormalities were excluded. The final diagnosis of fetal defects was based on the results of postnatal examination in the case of livebirths and on the findings of the last ultrasound examination in the cases of pregnancy termination, miscarriage or stillbirth. The performance of the 11-13 weeks scan in the detection of fetal defects was determined. Results: The study population of 6,366 twin pregnancies with two live fetuses at 11-13 weeks’ gestation, included 4,979 (78.2%) dichorionic (DC) and 1,387 (21.8%) monochorionic (MC) twin pregnancies. The main findings were: first, the overall incidence of fetal defects was higher in MC than DC twins (2.8% vs. 1.3%); second, the proportion of defects diagnosed in the first-trimester was higher in MC than in DC twins (52.6% vs. 27.1%); third, the pattern of defects in relation to detectability at the 11-13 weeks scan, always detectable, sometimes detectable and never detectable, was similar to that previously reported in singleton pregnancies; fourth, always detectable defects included acrania, alobar holoprosencephaly, encephalocele, pentalogy of Cantrell, exomphalos, body stalk anomaly, TRAP sequence and conjoined twins; fifth, the incidence of fetal NT ≥95th percentile was higher in those with than without defects (16.5% vs. 4.5% in DC twins and 19.2% vs. 5.9% in MC twins) and this was also true for NT >99th percentile (8.3% vs. 1.0% in DC twins and 15.4% vs. 2.0% in MC twins); and sixth, the incidence of CRL discordance ≥10% was higher in those with than without defects (20.2% vs. 7.9% in DC twins and 33.8% vs. 9.3% in MC twins) and this was also true for CRL discordance ≥15% (10.1% vs. 1.9% in DC twins and 28.2% vs. 2.8% in MC twins). Conclusions: First, fetal defects are more common in MC than in DC twin pregnancies, second, first-trimester detection of fetal defects in DC twin pregnancies is similar to that in singleton pregnancies, third, detectability of defects in MC twins is higher than in DC twins, fourth, in twin pregnancies with fetal defects there is a higher intertwin discordance in CRL and incidence of high NT, but the predictive performance of screening by these markers is poor

High genetic diversity of measles virus, World Health Organization European region, 2005-2006

During 2005-2006, nine measles virus (MV) genotypes were identified throughout the World Health Organization European Region. All major epidemics were associated with genotypes D4, D6, and B3. Other genotypes (B2, D5, D8, D9, G2, and H1) were only found in limited numbers of cases after importation from other continents. The genetic diversity of endemic D6 strains was low; genotypes C2 and D7, circulating in Europe until recent years, were no longer identified. The transmission chains of several indigenous MV strains may thus have been interrupted by enhanced vaccination. However, multiple importations from Africa and Asia and virus introduction into highly mobile and unvaccinated communities caused a massive spread of D4 and B3 strains throughout much of the region. Thus, despite the reduction of endemic MV circulation, importation of MV from other continents caused prolonged circulation and large outbreaks after their introduction into unvaccinated and highly mobile communities

Retinal and circulating miRNA expression patterns in diabetic retinopathy: An in silico and in vivo approach

Background and Purpose: Diabetic retinopathy, a secondary complication of diabetes mellitus, can lead to irreversible vision loss. Currently, no treatment is approved for early phases of diabetic retinopathy. Modifications of the expression pattern of miRNAs could be involved in the early retinal damage of diabetic subjects. Therefore, we aimed at identification of dysregulated miRNAs–mRNA interactions that might be biomarkers and pharmacological targets for diagnosis and treatment of early diabetic retinopathy. Methods: A focused set of miRNAs was predicted through a bioinformatic analysis accessing to Gene Expression Omnibus dataset and enrichment of information approach (GENEMANIA-Cytoscape). Identification of miRNAs–mRNA interactions was carried out with miRNET analysis. Diabetes was induced in C57BL6J mice by streptozotocin and samples analysed at 5 and 10 weeks after diabetes induction. Retinal ultrastructure of diabetic mice was analysed through electron microscopy. We used Real-time PCR, western blot analysis, elisa, and immunohistochemistry to study expression of miRNAs and possible targets of dysregulated miRNAs. Key Results: We found that miR-20a-5p, miR-20a-3p, miR-20b, miR-106a-5p, miR-27a-5p, miR-27b-3p, miR-206-3p, and miR-381-3p were dysregulated in the retina and serum of diabetic mice. VEGF, brain-derived neurotrophic factor (BDNF), PPAR-α, and cAMP response element-binding protein 1 (CREB1) are targets of dysregulated miRNAs, which then modulated protein expression in diabetic retina. We found structural modifications in retinas from diabetic mice. Conclusions and Implications: Serum and retina of diabetic mice express eight dysregulated miRNAs, which modified the expression of VEGF, BDNF, PPAR-α, and CREB1, before vasculopathy in diabetic retinas.Background and Purpose: Diabetic retinopathy, a secondary complication of diabetes mellitus, can lead to irreversible vision loss. Currently, no treatment is approved for early phases of diabetic retinopathy. Modifications of the expression pattern of miRNAs could be involved in the early retinal damage of diabetic subjects. Therefore, we aimed at identification of dysregulated miRNAs–mRNA interactions that might be biomarkers and pharmacological targets for diagnosis and treatment of early diabetic retinopathy. Methods: A focused set of miRNAs was predicted through a bioinformatic analysis accessing to Gene Expression Omnibus dataset and enrichment of information approach (GENEMANIA-Cytoscape). Identification of miRNAs–mRNA interactions was carried out with miRNET analysis. Diabetes was induced in C57BL6J mice by streptozotocin and samples analysed at 5 and 10 weeks after diabetes induction. Retinal ultrastructure of diabetic mice was analysed through electron microscopy. We used Real-time PCR, western blot analysis, elisa, and immunohistochemistry to study expression of miRNAs and possible targets of dysregulated miRNAs. Key Results: We found that miR-20a-5p, miR-20a-3p, miR-20b, miR-106a-5p, miR-27a-5p, miR-27b-3p, miR-206-3p, and miR-381-3p were dysregulated in the retina and serum of diabetic mice. VEGF, brain-derived neurotrophic factor (BDNF), PPAR-α, and cAMP response element-binding protein 1 (CREB1) are targets of dysregulated miRNAs, which then modulated protein expression in diabetic retina. We found structural modifications in retinas from diabetic mice. Conclusions and Implications: Serum and retina of diabetic mice express eight dysregulated miRNAs, which modified the expression of VEGF, BDNF, PPAR-α, and CREB1, before vasculopathy in diabetic retinas