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Povzetek: Human papillomavirus (HPV)-based screening offers better protection against cervical cancer compared to cytology, but HPV screening assays must adhere to validation requirements of the international guidelines to ensure optimal performance. Allplex HPV HR Detection (Allplex) assay, launched in the late 2022, is a fully automated real-time PCR-based assay utilizing innovative technology that enables quantification and concurrent distinction of 14 high-risk HPV genotypes (HPV16,18,31,33,35,39,45,51,52,56,58,59,66 and 68). We assessed the validity of the Allplex for cervical cancer screening purposes, via comparison to a clinically validated comparator assay (Hybrid Capture 2; HC2), and through assessment of intra-laboratory reproducibility and inter-laboratory agreement. A clinical validation panel comprised of 973 residual ThinPrep samples was obtained from women aged 30-64 years participating in the organized Slovenian screening program, of these 863 were from women undergoing their regular screening visit after a previous negative screen test while 110 were from women with underlying cervical intraepithelial neoplasia grade 2 or worse (CIN2+) lesions. The Allplex's relative clinical sensitivity for detection of CIN2+ and CIN3+ were 1.01 (95%CI;0.98-1.04) and 0.98 (95%CI;0.95-1.02), compared to that of HC2. At recommended thresholds of ≥98% and ≥90%, the Allplex's clinical sensitivity and specificity (p=0.0004 and p=0.02, respectively) were non-inferior to HC2. High intra-laboratory reproducibility and inter-laboratory agreement, both overall (98.1% and 97.9%, respectively) and at genotype level (>98.7%) was observed. In addition, analytical genotype-specific performance of Allplex was compared to that of its predecessor Anyplex HPV HR; high overall agreement was observed (96.3%; kappa value 0.88), with some variations in performance. In conclusion, Allplex met all validation criteria described in the international guidelines on sensitivity, specificity and laboratory reproducibility and can be considered clinically validated for primary cervical cancer screening.
Ključne besede: Allplex HPV HR, HPV, cervical cancer, genotyping, human papillomaviruses, screening, validation
Objavljeno v DiRROS: 11.06.2026; Ogledov: 108; Prenosov: 73
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Povzetek: Background: Multiple familial hypercholesterolemia (FH) screening strategies are recommended, but how they work together within a population remains poorly understood. Here, we aimed to compare the characteristics of children diagnosed through a universal screening program with those of adults identified through opportunistic screening. Methods: In this retrospective cross-sectional study, we analyzed the clinical and genetic characteristics of children and adults with genetically confirmed heterozygous FH (HeFH). Results: Out of 442 children and 299 adults with a definite or probable FH based on clinical criteria, 39 (13.0%) adults and 197 (44.6%) children had also a genetic HeFH. FH causative variants were present in low-density lipoprotein receptor (LDLR) in 159 (67.4%) patients and in apolipoprotein B (APOB) in 77 (32.6%) patients. The combined screening approach identified 44 disease-causing variants, of which 2 and 25 were unique to the adult and pediatric cohort, respectively. The proportion of children with missense variants was significantly higher (172 [87.3%] vs. 27 [69.2%]; p = 0.005), whereas the proportion of termination variants was significantly lower (20 [10.2%] vs. 11 [28.2%]; p = 0.002) compared to the adult group. Adults had higher adjusted low-density lipoprotein cholesterol compared to children. Conclusions: Our study suggests that opportunistic adult screening identifies more severe FH phenotypes, while universal pediatric screening detects milder cases.
Ključne besede: familial hypercholesterolemia, adults, children, genetics, universal screening, opportunistic screening
Objavljeno v DiRROS: 01.06.2026; Ogledov: 134; Prenosov: 89
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Povzetek: Background Global developmental delay (GDD) is a common pediatric disorder that affects up to 3% of children. Due to the heterogeneous etiology of GDD, diagnostic procedures and algorithms are complex and diverse. The aim of our study was to investigate the diagnostic yield of genetic, metabolic, and imaging studies in establishing the etiology of unexplained GDD (UGDD). Methods In this retrospectively observational study, we examined the medical records of all children diagnosed with UGDD at the Department of Pediatric Neurology, University Medical Centre Ljubljana, Slovenia, between January and December 2019. We evaluated the effectiveness of various genetic, metabolic, and magnetic resonance imaging (MRI) tests in identifying the underlying cause of GDD. Additionally, we assessed subgroups of patients to determine whether any of the studied tests were particularly beneficial based on their clinical symptoms. Results A total of 123 patients met the inclusion criteria, with a median age of 4.3 years (range, 0–16 years), of which 71 (57.7%) were males. Genetic diagnosis was established in 47.1% (58/123) of patients. Metabolic laboratory testing did not identify a metabolic disease in any of the tested participants (114/123) and MRI was critical for diagnosis in only 1/81 (1.2%) patient. Conclusion Our findings strongly suggest that genetic testing surpasses MRI and metabolic testing in establishing the etiology of UGDD in a pediatric neurology outpatient setting. This information will help guide the diagnostic evaluation of these children
Ključne besede: unexplained global developmental delay, diagnostic yield, genetics, MRI, metabolic screening
Objavljeno v DiRROS: 16.04.2026; Ogledov: 234; Prenosov: 194
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Povzetek: This review presents analysis of gestational diabetes mellitus (GDM) in Slovenia based on national data and published research over a decade. Slovenia adopted the International Association of Diabetes and Pregnancy Study Groups (IADPSG) recommendations in 2011 and integrated them into routine antenatal care by 2023. Universal screening has increased the prevalence of GDM from 4 % before 2010 to 21 % in 2023. The analysed perinatal outcomes improved: the overall rates of large for gestational age (LGA) neonates and Erb’s palsy decreased (AOR 0.93, 95 % CI 0.91–0.96 and AOR 0.72, 95 % CI 0.60–0.86 respectively) as did rates of preeclampsia (AOR 0.72, 95 % CI 0.68–0.76) and gestational hypertension (AOR 0.80, 95 % CI 0.77–0.83). The population of pregnant women changed, mean age at delivery, pre-pregnancy body mass index (BMI), proportion of obesity and parity increased. A dose-response relationship was found between pre-pregnancy BMI and GDM as there was synergistic effect of parity and maternal obesity on excessive fetal growth. Despite the nutrition interventions and tight control of blood glucose levels LGA infants could not be completely prevented. Beyond metabolic effects, GDM imposes a significant psychological burden; distinct psychological profiles were identified, emphasizing the need for tailored psychosocial support.
Ključne besede: gestational diabetes mellitus, prenatal screening, obesity, pregnancy outcomes
Objavljeno v DiRROS: 19.03.2026; Ogledov: 321; Prenosov: 177
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Povzetek: Newborn screening (NBS) is a well-established public health program that enables early detection and treatment of rare disorders in newborns, preventing severe complications or death. Despite its recognized importance, the scope and implementation of NBS programs vary across Southeastern (SE) and Central Europe. This study aimed to evaluate the current status of NBS in 16 countries of SE and Central Europe and assess progress since the previous survey in 2021. A structured questionnaire was distributed to national experts between April and December 2025, collecting data on program organization, coverage, diseases included, laboratory methods, confirmatory testing, consent practices, and future expansion plans. All countries reported universal screening for congenital hypothyroidism, except Kosovo, where a national NBS is in the process of being established. Expanded NBS using tandem mass spectrometry was available in Austria, Bulgaria, Croatia, Cyprus, Greece, Hungary, North Macedonia, Romania, and Slovenia. Spinal muscular atrophy screening became universal in Austria, Croatia, Hungary, Serbia, and Slovenia. Most countries reported plans for further expansion, with congenital adrenal hyperplasia, severe combined immunodeficiency, spinal muscular atrophy, and cystic fibrosis being the most frequently targeted conditions. Although notable infrastructural progress has been achieved, financial constraints, lack of staff, and organizational barriers remain key challenges. The study’s assessment of program effectiveness was further limited by the absence of region-wide systems for capturing end-to-end performance indicators, such as the age of the infant at treatment initiation or missed cases. Regional collaboration and adoption of best practices are therefore vital to ensure equitable access and continuous advancement of NBS programs.
Ključne besede: newborn screening, NBS, Southeastern Europe, Central Europe, neonatal screening, expanded NBS program
Objavljeno v DiRROS: 06.03.2026; Ogledov: 397; Prenosov: 258
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