1. Red blood cell transfusion in European neonatal intensive care units, 2022 to 2023Nina A. M. Houben, Suzanne Fustalo-Gunnik, Karin Fijnvandraat, Camila Caram-Deelder, Marta Aguar Carrascosa, Alain Beuchée, Kristin Brække, Francesco Stefano Cardona, Anne Debeer, Sara Domingues, Jana Lozar Krivec, 2024, izvirni znanstveni članek Povzetek: Importance: Red blood cell (RBC) transfusions are frequently administered to preterm infants born before 32 weeks of gestation in the neonatal intensive care unit (NICU). Two randomized clinical trials (Effects of Transfusion Thresholds on Neurocognitive Outcomes of Extremely Low-Birth-Weight Infants [ETTNO] and Transfusion of Prematures [TOP]) found that liberal RBC transfusion thresholds are nonsuperior to restrictive thresholds, but the extent to which these results have been integrated into clinical practice since publication in 2020 is unknown. Objective: To describe neonatal RBC transfusion practice in Europe. Design, setting, and participants: This international prospective observational cohort study collected data between September 1, 2022, and August 31, 2023, with a 6-week observation period per center, from 64 NICUs in 22 European countries. Participants included 1143 preterm infants born before 32 weeks of gestation. Exposure: Admission to the NICU. Main outcomes and measures: Study outcome measures included RBC transfusion prevalence rates, cumulative incidence, indications, pretransfusion hemoglobin (Hb) levels, volumes, and transfusion rates, Hb increment, and adverse effects of RBC transfusion. Results: A total of 1143 preterm infants were included (641 male [56.1%]; median gestational age at birth, 28 weeks plus 2 days [IQR, 26 weeks plus 2 days to 30 weeks plus 2 days]; median birth weight, 1030 [IQR, 780-1350] g), of whom 396 received 1 or more RBC transfusions, totaling 903 transfusions. Overall RBC transfusion prevalence rate during postnatal days 1 to 28 was 3.4 transfusion days per 100 admission days, with considerable variation across countries, only partly explained by patient mix. By day 28, 36.5% (95% CI, 31.6%-41.5%) of infants had received at least 1 transfusion. Most transfusions were given based on a defined Hb threshold (748 [82.8%]). Hemoglobin levels before transfusions indicated for threshold were below the restrictive thresholds set by ETTNO in 324 of 729 transfusions (44.4%) and TOP in 265 of 729 (36.4%). Conversely, they were between restrictive and liberal thresholds in 352 (48.3%) and 409 (56.1%) transfusions, respectively, and above liberal thresholds in 53 (7.3%) and 55 (7.5%) transfusions, respectively. Most transfusions given based on threshold had volumes of 15 mL/kg (470 of 738 [63.7%]) and were administered over 3 hours (400 of 738 [54.2%]), but there was substantial variation in dose and duration. Conclusions and relevance: In this cohort study of very preterm infants, most transfusions indicated for threshold were given for pretransfusion Hb levels above restrictive transfusion thresholds evaluated in recent trials. These results underline the need to optimize practices and for implementation research to support uptake of evidence Ključne besede: red blood cell transfusion, neonatal intensive care Objavljeno v DiRROS: 11.06.2026; Ogledov: 138; Prenosov: 72
Celotno besedilo (1,09 MB) Gradivo ima več datotek! Več... |
2. Relationship between labour analgesia modalities and types of anaesthetic techniques in categories 2 and 3 intrapartum caesarean deliveriesTatjana Stopar Pintarič, Maja Pavlica, Mirjam Druškovič, Gorazd Kavšek, Ivan Verdenik, Polona Pečlin, 2024, izvirni znanstveni članek Povzetek: General anaesthesia is typically recommended for category 1 emergency caesarean delivery (CD). For categories 2-4 emergencies, either regional and general anaesthesia could be used. However, the factors influencing the choice of anaesthetic technique in these categories remain poorly understood. We analysed the association between the type of labour analgesia and subsequent anaesthetic techniques employed for intrapartum categories 2 and 3 CD. A prospective longitudinal cohort study was conducted at the University Medical Centre Ljubljana. A total of 300 women who underwent emergency CD between March and October 2021 were consecutively enrolled and categorised according to Lucas's classification of CD urgency. Parturients with category 1 and category 4 emergency CD were excluded from the analysis. Demographic, obstetric, and anaesthetic data were recorded. The techniques of anaesthesia (general, spinal, and epidural anaesthesia) employed for CD were analysed with respect to labour analgesia methods (remifentanil patient-controlled analgesia [remifentanil-PCA], epidural analgesia, and nitrous oxide). Of the participants, 124 (41.3%) had category 2, and 96 (32%) had category 3 emergency CD. Epidural analgesia was the most frequent analgesic option (43.8%), followed by remifentanil-PCA (20.7%) anditrous oxide (5.1%), while 30.4% of parturient women received no analgesia. All anaesthetic methods showed a significant relationship with analgesic modalities (P < 0.001). Remifentanil-PCA was associated with a higher incidence of general anaesthesia. Contraindication to epidural analgesia was the primary factor related to the transition from remifentanil-PCA to general anaesthesia. Most parturients who received epidural analgesia were successfully converted to epidural anaesthesia. Spinal anaesthesia was the most common technique in women using N2O and those without labour analgesia. General anaesthesia was associated with lower 5 min Apgar scores. The method of labour analgesia was associated with the anaesthesia technique employed for categories 2 and 3 CD. This finding may guide patient counselling and intrapartum anaesthetic planning. However, the analysis should be cautiously interpreted as the selection of anaesthesia is a complex decision influenced by several clinical considerations. Ključne besede: emergency caesarean delivery, labour analgesia, remifentanil-PCA, epidural analgesia, general anaesthesia, obstetric anaesthesia, neonatal outcome Objavljeno v DiRROS: 04.06.2026; Ogledov: 107; Prenosov: 83
Celotno besedilo (1,08 MB) Gradivo ima več datotek! Več... |
3. Presepsin in neonatal sepsis : a single-center evaluation in comparison to conventional markersMojca Kavčič, Petja Fister, Aneta Soltirovska Šalamon, Joško Osredkar, Darja Paro Panjan, 2026, izvirni znanstveni članek Povzetek: Objective: Neonatal sepsis is a leading cause of morbidity and mortality in newborns. Timely and accurate diagnosis remains a challenge due to the nonspecific clinical signs and the limited sensitivity and specificity of conventional biomarkers such as C-reactive protein (CRP), procalcitonin (PCT), and white blood cell (WBC) count. Presepsin, a soluble CD14 subtype, has been proposed as a promising early marker of bacterial infection. This study aimed to assess the diagnostic value of serum presepsin in comparison with traditional inflammatory markers in neonates with suspected sepsis. Methods: In a prospective observational study conducted at a single tertiary care center, 18 neonates with clinical signs of sepsis were evaluated. The patients were divided into culture-proven (n=7) and culture-unproven (n=11) sepsis groups. Presepsin levels were measured using a chemiluminescent assay and compared to CRP, PCT, and WBC counts. Results: The median presepsin levels were higher in culture-proven cases (740 ng/L vs. 393 ng/L), but without statistical significance. Similar trends were observed for CRP and PCT, while WBC counts showed no diagnostic value. Conclusion: Although presepsin demonstrated potential as an early biomarker, its diagnostic performance in this small cohort was inconclusive. Combined use of presepsin with conventional markers and clinical evaluation may improve early sepsis diagnosis in neonates. Ključne besede: neonatal sepsis, presepsin, inflammatory markers, procalcitonin, C-reactive protein Objavljeno v DiRROS: 08.04.2026; Ogledov: 237; Prenosov: 158
Celotno besedilo (566,35 KB) Gradivo ima več datotek! Več... |
4. Four years on : pregnancy and birth outcomes reported in the MSBase pregnancy, neonatal outcomes, and Women's Health Registry (2020-2024)Vilija G. Jokubaitis, Raed Alroughani, Ayse Altintas, Sara Eichau, Stella Hughes, 2025, izvirni znanstveni članek Povzetek: Background: Family planning is an important aspect of multiple sclerosis (MS), and neuromyelitis optica spectrum disorder (NMOSD) management. Knowledge gaps remain, including optimal perinatal management strategies, and fetal risks associated with disease-modifying therapy (DMT) exposure. Objective: To describe perinatal DMT use, together with pregnancy and neonatal outcomes prospectively recorded in the International MSBase Pregnancy and Women's Health Registry. Methods: We report summary statistics for data collected between May 2020 and August 2024. Results: A total of 1887 relapsing-remitting MS (RRMS), 12 primary-progressive MS (PPMS), 2 radiologically isolated syndrome (RIS) and 21 NMOSD completed pregnancies were recorded, including 1644 (85.5%) live births, 208 (10.8%) miscarriages, and 6 (0.3%) neonatal deaths. Most women had unassisted (53.8%) or assisted (7.4%) vaginal births. Seventy five percent of pregnancies had DMT exposures within 6 months preconception; 19% of NMOSD, and 62% of MS pregnancies were DMT-exposed during gestation; 18.1% of pregnancies reported in-pregnancy monoclonal antibody DMT exposure. No overt safety signals were seen. Conclusion: This first report from the newly launched MSBase pregnancy registry, establishes an increasing number of pregnancies being conceived on monoclonal antibody therapies. Although no safety signals were observed, it is important to continue monitoring for safety signals in real-world databases as the use of highly effective therapies continues to increase perinatally. Ključne besede: multiple slerosis, disease-modifying therapy, neonatal outcomes, neuromyelitis optica spectrum disorder, pregnancy Objavljeno v DiRROS: 26.03.2026; Ogledov: 243; Prenosov: 154
Celotno besedilo (797,22 KB) Gradivo ima več datotek! Več... |
5. Current status of newborn screening in Southeastern and Central EuropeNika Požun, Daša Perko, Violeta Anastasovska, Tadej Battelino, Ana Drole Torkar, Matej Mlinarič, Žiga Iztok Remec, Barbka Repič-Lampret, Domen Trampuž, Mojca Žerjav-Tanšek, Urh Grošelj, 2026, izvirni znanstveni članek 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
Celotno besedilo (749,60 KB) Gradivo ima več datotek! Več... |
6. Evaluation of neonatal screening programs for tyrosinemia type 1 worldwideAllysa M. Kuypers, Marelle J. Bouva, J. Gerard Loeber, Anita Boelen, Eugenie Dekkers, Konstantinos Petritis, C. Austin Pickens, Francjan J. van Spronsen, M. Rebecca Heiner-Fokkema, 2024, izvirni znanstveni članek Povzetek: In The Netherlands, newborn screening (NBS) for tyrosinemia type 1 (TT1) uses dried blood spot (DBS) succinylacetone (SUAC) as a biomarker. However, high false-positive (FP) rates and a false-negative (FN) case show that the Dutch TT1 NBS protocol is suboptimal. In search of optimization options, we evaluated the protocols used by other NBS programs and their performance. We distributed an online survey to NBS program representatives worldwide (N = 41). Questions focused on the organization and performance of the programs and on changes since implementation. Thirty-three representatives completed the survey. TT1 incidence ranged from 1/13,636 to 1/750,000. Most NBS samples are taken between 36 and 72 h after birth. Most used biomarkers were DBS SUAC (78.9%), DBS Tyrosine (Tyr; 5.3%), or DBS Tyr with second tier SUAC (15.8%). The pooled median cut-off for SUAC was 1.50 µmol/L (range 0.3–7.0 µmol/L). The median cut-off from programs using laboratory-developed tests was significantly higher (2.63 µmol/L) than the medians from programs using commercial kits (range 1.0–1.7 µmol/L). The pooled median cut-off for Tyr was 216 µmol/L (range 120–600 µmol/L). Overall positive predictive values were 27.3% for SUAC, 1.2% for Tyr solely, and 90.1% for Tyr + SUAC. One FN result was reported for TT1 NBS using SUAC, while three FN results were reported for TT1 NBS using Tyr. The NBS programs for TT1 vary worldwide in terms of analytical methods, biochemical markers, and cut-off values. There is room for improvement through method standardization, cut-off adaptation, and integration of new biomarkers. Further enhancement is likely to be achieved by the application of post-analytical tools Ključne besede: tyrosinemia type 1, neonatal screening, dried blood spots, inborn metabolic disease, succinylacetone, tyrosine Objavljeno v DiRROS: 26.02.2026; Ogledov: 334; Prenosov: 177
Celotno besedilo (2,24 MB) Gradivo ima več datotek! Več... |
7. Platelet transfusion in neonatal intensive care units of 22 European countries : a prospective observational studyNina A. M. Houben, Enrico Lopriore, Karin Fijnvandraat, Camila Caram-Deelder, Marta Aguar Carrascosa, Alain Beuchée, Kristin Brække, Francesco Stefano Cardona, Anne Debeer, Sara Domingues, Jana Lozar Krivec, 2024, izvirni znanstveni članek Povzetek: Background: Platelet transfusions are given to preterm infants with severe thrombocytopenia aiming to prevent haemorrhage. The PlaNeT2/MATISSE trial revealed higher rates of mortality and/or major bleeding in preterm infants receiving prophylactic platelet transfusions at a platelet count threshold of 50 × 109/L compared to 25 × 109/L. The extent to which this evidence has been incorporated into clinical practice is unknown, thus we aimed to describe current neonatal platelet transfusion practices in Europe. Methods: We performed a prospective observational study in 64 neonatal intensive care units across 22 European countries between September 2022 and August 2023. Outcome measures included observed transfusion prevalence rates (per country and overall, pooled using a random effects Poisson model), expected rates based on patient-mix (per country, estimated using logistic regression), cumulative incidence of receiving a transfusion by day 28 (with death and discharge considered as competing events), transfusion indications, volumes and infusion rates, platelet count triggers and increment, and adverse effects. Findings: We included 1143 preterm infants, of whom 71 (6.2%, [71/1143]) collectively received 217 transfusions. Overall observed prevalence rate was 0.3 platelet transfusion days per 100 admission days. By day 28, 8.3% (95% CI: 5.5–11.1) of infants received a transfusion. Most transfusions were indicated for threshold (74.2%, [161/217]). Pre-transfusion platelet counts were above 25 × 109/L in 33.1% [53/160] of these transfusions. There was significant variability in volume and duration. Interpretation: The restrictive threshold of 25 × 109/L is being integrated into clinical practice. Research is needed to explore existing variation and generate evidence for various aspects including optimal volumes and infusion rates. Ključne besede: platelet transfusion, thrombocytopenia, preterm infants, neonatology, neonatal intensive care unit, epidemiology Objavljeno v DiRROS: 26.02.2026; Ogledov: 371; Prenosov: 225
Celotno besedilo (661,25 KB) Gradivo ima več datotek! Več... |
8. Brain oxygenation monitoring during neonatal stabilization and resuscitation and its potential for improving preterm infant outcomes : a systematic review and meta-analysis with Bayesian analysisMarlies Bruckner, Thomas Suppan, Ena Suppan, Bernhard Schwaberger, Berndt Urlesberger, Katharina Goeral, Marlene Hammerl, Tina Perme, Eugene M. Dempsey, Laila Springer, 2025, pregledni znanstveni članek Povzetek: Neonatal stabilization and resuscitation in preterm infants are critical interventions. Cerebral tissue oxygen saturation (CrSO2) measured with near-infrared spectroscopy monitoring offers potential benefits by providing real-time information on brain oxygenation. This systematic review aimed to determine if CrSO2-monitoring to guide neonatal resuscitation after birth can improve survival without cerebral injury. A systematic search of MEDLINE, Google Scholar, EMBASE, the Cumulative Index of Nursing and Allied Health Literature, Clinical Trials.gov, and the Cochrane Central Register of Controlled Trials was performed through December 2024. We included only human studies that investigated CrSO2-guided interventions during neonatal resuscitation after birth in preterm infants. A meta-analysis was performed using individual patient data and the Bayesian method. The main outcome assessed was survival without cerebral injury (Study registration:PROSPERO CRD42024512148). Two studies were identified, including a total of 667 preterm infants with less than 34 weeks of gestation, describing CrSO2-guided interventions during neonatal resuscitation. The meta-analysis revealed a high probability of treatment superiority for NIRS-guided interventions that demonstrated improved outcomes compared to standard care, with a 4.5% increase in the rate of survival without cerebral injury (93% probability) and 4.2% reduction of IVH of any grade (94% probability). The risk of bias can be described as low.Conclusion:This meta-analysis suggests that CrSO2-guided interventions may offer a meaningful advantage in preterm infant resuscitation after birth, improving survival without brain injury. The analysis indicates a high probability of a clinically important benefit. This warrants consideration in clinical practice. What is Known:center dot Studies have shown that near-infrared spectroscopy can monitor brain oxygenation in preterm infants immediately after birth.What is New:center dot This is the first meta-analysis to examine the impact of near-infrared spectroscopy based interventions on neonatal resuscitation outcomes.center dot Interventions based on monitoring preterm infants' cerebral oxygenation may improve their chances of surviving without severe brain injury, compared to standard care. Ključne besede: brain oxygenation, cerebral tissue oxygen saturation, delivery room, NIRS, near-infrared spectroscopy, neonatal resuscitation, neonatal stabilization, neonates, preterm infants Objavljeno v DiRROS: 24.02.2026; Ogledov: 394; Prenosov: 193
Celotno besedilo (1,00 MB) Gradivo ima več datotek! Več... |
9. Ethical considerations and multidisciplinary care for pediatric patients with hypoplastic left heart syndrome : a narrative review with a systematic searchMojca Železnik, Urh Grošelj, Petja Fister, 2025, pregledni znanstveni članek Povzetek: Background: Hypoplastic left heart syndrome (HLHS) was a fatal congenital heart defect (CHD) until the 1980s. Introduction of the Norwood procedure and subsequent Fontan operation significantly improved survival by creating a single-ventricle circulation. Due to the high mortality associated with the Norwood operation, neonatal orthotopic heart transplantation emerged as an alternative, despite challenges such as lifelong immunosuppressive treatment and uncertain longevity of transplanted hearts. Methods: A narrative review with a systematic literature search was conducted in the PubMed, following PRISMA guidelines and included studies of ethical and medical considerations, decision-making, counseling and treatment planning in children with HLHS. In addition, we manually screened reference lists to identify further relevant literature. We aimed to explore: how do ethical considerations and decision-making processes influence the management and outcomes of fetuses and neonates with HLHS and their families across prenatal, postnatal, and long-term care? Results: Of the 115 studies, 56 met the inclusion criteria. Early diagnosis through prenatal fetal ultrasound has markedly improved survival rates by enabling better parental awareness, counseling, and decision-making. Managing HLHS requires urgent, extensive, and costly medical interventions, with outcomes influenced by the healthcare system's expertise, the experience of cardiologists and surgeons, ethical, legal, and religious considerations of the parents and medical team. The prenatal phase is crucial for optimal management, with advanced fetal ultrasound facilitating early detection. Postnatal care involves a multidisciplinary approach, including stage palliation physiology/surgery tailored to each patient. Despite surgical advancements, HLHS patients face higher morbidity and mortality rates than other patients with CHDs, with long-term survival and quality of life remaining key concerns. Ethical considerations play a significant role in the management of HLHS, encompassing the autonomy of families, the best medical interests of the child, societal, and cultural factors. Decision-making must balance full disclosure with sensitivity to parents' values and beliefs. Conclusions: Management of HLHS involves multidisciplinary approach with complex medical and ethical considerations, but the current literature lacks high-quality studies or consensus guidelines on ethical decision-making. Therefore, the influence of ethical considerations on clinical management and patient care remains unclear, highlighting the need for further research. Ključne besede: hypoplastic left heart syndrome, congenital heart defect, prenatal diagnosis, neonatal care, palliative surgery, medical ethic, multidisciplinary care, decision making Objavljeno v DiRROS: 12.12.2025; Ogledov: 764; Prenosov: 302
Celotno besedilo (676,27 KB) Gradivo ima več datotek! Več... |
10. International survey on Phenylketonuria newborn screeningDomen Trampuž, Peter C. J. I. Schielen, Rolf H. Zetterström, Maurizio Scarpa, François Feillet, Viktor Kožich, Trine Tangeraas, Ana Drole Torkar, Matej Mlinarič, Daša Perko, Žiga Iztok Remec, Barbka Repič-Lampret, Tadej Battelino, Urh Grošelj, 2025, izvirni znanstveni članek Povzetek: ewborn screening for Phenylketonuria enables early detection and timely treatment with a phenylalanine-restricted diet to prevent severe neurological impairment. Although effective and in use for 60 years, screening, diagnostic, and treatment practices still vary widely across countries and centers. To evaluate the Phenylketonuria newborn screening practices internationally, we designed a survey with questions focusing on the laboratory aspect of the screening system. We analyzed 24 completed surveys from 23 countries. Most participants used the same sampling age range of 48–72 h; they used tandem mass spectrometry and commercial non-derivatized kits to measure phenylalanine (Phe), and had non-negative cut-off values (COV) set mostly at 120 µmol/L of Phe. Participants mostly used genetic analysis of blood and detailed amino acid analysis from blood plasma as their confirmatory methods and set the COV for the initiation of dietary therapy at 360 µmol/L of Phe. There were striking differences in practice as well. While most participants reported a 48–72 h range for age at sampling, that range was overall quite diverse Screening COV varied as well. Additional screening parameters, e.g., the phenylalanine/tyrosine ratio were used by some participants to determine the screening result. Some participants included testing for tetrahydrobiopterin deficiency, or galactosemia in their diagnostic process. Results together showed that there is room to select a best practice from the many practices applied. Such a best practice of PKU-NBS parameters and post-screening parameters could then serve as a generally applicable guideline. Ključne besede: phenylketonuria, newborn, neonatal, screening, international, survey, laboratory, methods, cut-off Objavljeno v DiRROS: 04.12.2025; Ogledov: 3797; Prenosov: 342
Celotno besedilo (912,91 KB) Gradivo ima več datotek! Več... |