Background: Prader-Willi syndrome (PWS) is a multisystemic complex imprinting disorder. Prenatal diagnosis of PWS is still a challenge with non-specific ultrasound markers and limitations for diagnosis with non-invasive screening methods. Prenatal suspicion and early postnatal diagnosis are mandatory for promoting healthy growth and development, preventing complications, and providing health care professionals and families with the necessary support and resources for effective management. Presentation: We report two PWS cases caused by maternal uniparental disomy, who presented with IUGR, specifically reduced fetal abdominal circumference (AC) during the second and early third trimesters against the background of reduced fetal move-ments, normal Doppler indicators and oligohydramnios. They were diagnosed in the early neonatal period with no prenatal suspicion but with similar ultrasound markers of the developing pregnancies, analyzed retrospectively. Aim: The aim of this study is to emphasise the need to raise awareness among specialists about genetic syndromes such as Prader–Willi syndrome, in order to improve the information provided to couples regarding the limitations of current prenatal screening methods, as well as to ensure that, in cases of prenatal suspicion, appropriate genetic testing can be initiated. A confirmed diagnosis would allow timely and adequate measures to be taken, given the complications of the postnatal period in these patients and their need for specialised care and management Conclusions: The presence of the aforementioned prenatal characteristics may raise suspicion for PWS. In such cases, invasive diagnostic procedures and methylation testing may be indicated, enabling earlier diagnosis and timely management, which can ultimately improve the quality of life of affected individuals and their families.

Background: Prader–Willi syndrome (PWS) is a multisystemic complex imprinting disorder. Prenatal diagnosis of PWS is still a challenge with non-specific ultrasound markers and limitations for diagnosis with non-invasive screening methods. Prenatal suspicion and early postnatal diagnosis are essential for promoting healthy growth and development, preventing complications, and providing healthcare professionals and families with the necessary support and resources for effective management. Presentation: We report two PWS cases caused by maternal uniparental disomy, who presented with IUGR, characterized by reduced fetal abdominal circumference (AC) in the second and early third trimesters, reduced fetal movements, normal Doppler indices and oligohydramnios. They were diagnosed in the early neonatal period with no prenatal suspicion but with similar ultrasound markers of the developing pregnancies, analyzed retrospectively. Aim: This study aims to emphasize the need to raise awareness among specialists about genetic syndromes such as Prader–Willi syndrome, to improve the information provided to couples regarding the limitations of current prenatal screening methods, as well as to ensure that, in cases of prenatal suspicion, appropriate genetic testing can be initiated. A confirmed diagnosis would allow timely and adequate measures to be taken, given the complications of the postnatal period in these patients and their need for specialized care and management. Conclusions: The presence of the aforementioned prenatal characteristics may raise suspicion for PWS. In such cases, invasive diagnostic procedures and methylation testing may be indicated, enabling earlier diagnosis and timely management, which can ultimately improve the quality of life of affected individuals and their families.

Background: Pediatric sepsis is a life-threatening emergency and remains complex to diagnose promptly due to the absence of universally reliable biomarkers. C-reactive protein (CRP) and procalcitonin (PCT) are widely used but have limited effectiveness. We evaluated the diagnostic reliability of presepsin and soluble mannose receptor (sMR) and identified optimal biomarker combinations for distinguishing sepsis from non-infectious systemic inflammatory response syndrome (SIRS) in children. Methods: A total of 80 children were enrolled in this prospective study, including 53 consecutive admissions to the pediatric intensive care unit (PICU) (sepsis, n = 42; non-infectious SIRS, n = 11) and 27 healthy controls. The serum levels of new biomarkers presepsin and soluble mannose receptor (sMR) levels were quantified by ELISA methods and their diagnostic reliability (both individually and combined with CRP and PCT) was assessed using receiver operating characteristic (ROC) curves and multivariate logistic regression. Results: Significantly higher concentrations of all measured markers were found both in septic and other critically ill patients than in healthy controls (p < 0.05). No single biomarker reliably differentiated sepsis from non-infectious SIRS. The sMR + CRP + PCT combination demonstrated the highest diagnostic accuracy (AUC = 0.78, p = 0.0007), surpassing the CRP + PCT model (AUC = 0.71, p = 0.0087). Conclusions: The addition of sMR to the established markers CRP and PCT improves the diagnostic effectiveness in pediatric sepsis. Larger multicenter studies are warranted to confirm clinical utility.