Valid data on prenatal cell-free DNA-based screening tests for copy number variations and microdeletions are still insufficient. We aimed to compare different methodological approaches concerning the achieved diagnostic accuracy measurements and positive predictive values. For this systematic review, we searched the Scopus and PubMed databases and backward citations for studies published between 2013 and 4 February 2022 and included articles reporting the analytical and clinical performance of cfDNA screening tests for CNVs and microdeletions. Of the 1810 articles identified, 32 met the criteria. The reported sensitivity of the applied tests ranged from 20% to 100%, the specificity from 81.62% to 100%, and the PPV from 3% to 100% for cases with diagnostic or clinical follow-up information. No confirmatory analysis was available in the majority of cases with negative screening results, and, therefore, the NPVs could not be determined. NIPT for CNVs and microdeletions should be used with caution and any developments regarding new technologies should undergo strict evaluation before their implementation into clinical practice. Indications for testing should be in correlation with the application guidelines issued by international organizations in the field of prenatal diagnostics.

Blunt abdominal trauma in childhood has always been full of diagnostic and therapeutic challenges that have tested the clinical and radiological skills of pediatric surgeons and radiologists. Despite the guidelines and the studies carried out so far, to this day, there is no absolute consensus on certain points of view. Around the world, a paradigm shift towards non-operative treatment of hemodynamically stable children, with low complication rates, is noticeable. Children with blunt abdominal trauma require a standardized methodology to provide the best possible care with the best possible outcomes. This comprehensive review systematizes knowledge about all aspects of caring for children with blunt abdominal trauma, from pre-hospital to post-hospital care.

Infantile hemangioma (IH) is the most common pediatric benign vascular tumor. Its pathogenesis is still poorly understood, and it usually appears during the first few weeks of life and follows a characteristic natural course of proliferation and involution. Most IHs are small, benign, resolve spontaneously, and do not require active treatment but only active observation. A minority of IHs are potentially problematic because they can cause life-threatening complications, permanent disfigurement, and functional impairment. Diagnosis is usually clinical, and propranolol is currently the mainstay of treatment. Other therapeutic modalities may be used alone or in combination, depending on the characteristics of the specific IH. New treatment options are being explored every day, and some are showing promising results. It is undeniable that therapeutic modalities for IHs must be selected based on the child’s age, the size and location of the lesion, the presence of complications, the implementation conditions, and the possible outcomes of the treatment. The future of IH management will certainly be reflected in improved advanced imaging modalities, research into the genetic and molecular basis, the development of new pharmacological agents or techniques, and the development of standardized protocols, all to optimize outcomes with minimal side effects.

Background: The role of Enterobius vermicularis infestation in the context of appendicitis is largely overlooked, but Enterobius vermicularis is considered an unexpected and significant appendicectomy finding. The aim of this study was to investigate the frequency of Enterobius vermicularis findings in appendectomies and to evaluate the clinical and histopathologic features of patients with Enterobius vermicularis-associated acute appendicitis and those with appendiceal Enterobius vermicularis infestation. Methods: The medical records of all children who underwent an appendectomy in two large pediatric centers in Croatia between 1 January 2009 and 1 January 2024 were retrospectively reviewed. Of 6359 appendectomies, 61 (0.96%) children were diagnosed with Enterobius vermicularis on histopathology and included in further analysis. The groups were compared with regard to demographic characteristics, laboratory values, clinical features and histopathological findings. Results: The incidence of enterobiasis fluctuated slightly in the individual study years, but was constant overall. The median age of all patients was 11 years (IQR 8.5, 13), with females predominating (60.7%). Acute appendicitis was observed in 34% of the appendiceal species. The patients with Enterobius vermicularis infestation, without appendicitis, were younger (9 years (IQR 8, 13) vs. 12 years (IQR 10, 15); p = 0.020), had longer duration of symptoms (36 h (IQR, 12, 48) vs. 24 h (IQR, 12, 36); p = 0.034), lower body temperature (37 °C (IQR 36.8, 37.4) vs. 37.6 °C (IQR, 37, 38.6) p = 0.012), lower Appendicitis Inflammation Response (AIR) score (3 (IQR 2, 5) vs. 7 (IQR 5, 9.5) p < 0.001), lower incidence of rebound tenderness (57.1% vs. 20%; p = 0.003) and less frequent vomiting (12.5% vs. 47.6%; p = 0.004) compared to the patients with Enterobius vermicularis-associated acute appendicitis. Acute inflammatory markers in the laboratory showed significantly higher values in the group of patients with acute appendicitis: C-reactive protein (p = 0.009), White blood cells (p = 0.001) and neutrophils (p < 0.001). Eosinophilia was not found in any of the groups, although eosinophil counts were significantly higher in children who had Enterobius vermicularis infestation than in those with Enterobius vermicularis-related appendicitis (2.5% (IQR 0.9, 4.3) vs. 1.8% (IQR 0.7, 2.1); p = 0.040). Conclusions: Pediatric surgeons should consider Enterobius vermicularis infestation as a differential diagnosis when removing a vermiform appendix. Younger age, longer duration of symptoms, lower body temperature, lower AIR score, lower diameter of the appendix and normal laboratory inflammatory markers could predict Enterobius vermicularis infection in children presenting with right iliac fossa pain and avoid unnecessary appendectomy.

The majority of abdominal masses in female children derive from the ovaries. Ovarian masses in pediatric populations can vary from simple functional cysts to malignant neoplasms. Their incidence, clinical presentation, and histological distribution vary across age groups. In the assessment of ovarian masses in children, the primary aim is to determine the probability of malignancy, as the treatment approaches for benign and malignant lesions are significantly distinct. The primary imaging tool for evaluating ovarian cysts and masses is ultrasound, which can assess the size, location, and characteristics of masses. Magnetic resonance imaging (MRI) or computed tomography (CT) may be used for further evaluation if ultrasound findings are inconclusive or if malignancy is suspected, especially in older adolescents. Serum markers may be considered in older adolescents to help assess the risk of malignancy, though it is less useful in younger populations due to normal developmental variations. Many functional ovarian cysts, especially those detected in fetuses or infants, often resolve spontaneously without intervention. Surgical intervention is indicated in cases of large cysts that cause symptoms, or if there are concerns for malignancy. Common procedures include primarily ovarian sparing laparoscopy or laparotomy. Complications like torsion, rupture, or hemorrhage may require urgent surgical intervention. Treatment should be performed in specialized centers to avoid unnecessary oophorectomies and ensure the best possible outcome for the patient. This comprehensive review aims to provide an overview of the evaluation, diagnosis, and treatment of ovarian masses in the pediatric population. Emphasis is placed on the particularities of the lesions and their management in relation to age subgroups.

Background: Neuroendocrine tumors (NETs) are rare tumors that arise from neuroendocrine cells and are the most common tumors of the appendix. NETs of the appendix usually cause no symptoms and often go unnoticed until they cause acute appendicitis or are discovered during an accidental appendectomy. As the trend towards the conservative treatment of acute appendicitis increases in the pediatric population, the question arises as to whether the majority of NETs go undetected and are only discovered at an advanced stage. The purpose of the proposed study is to review the incidence and outcomes of treatment for NETs of the appendix in children and include the data presented in the data pool for further review. Methods: From 1 January 2009 to 1 November 2023, a total of 6285 appendectomies were performed in two large pediatric centers in Croatia. After a retrospective review of the case records and histopathologic findings, a total of 31 children (0.49%) were diagnosed with NET of the appendix and included in the further analysis. The primary outcome of this study was the incidence and treatment outcome of pediatric patients diagnosed with NET of the appendix. Secondary outcomes included the patients’ demographic, clinical, and laboratory data and the histopathologic characteristics of tumor species. Results: The overall incidence of NETs of the appendix was stable over the study years, with minor fluctuations. The median age of patients was 14 (interquartile range—IQR: 12, 16) years, with a female predominance (64.5%). The majority of patients (96.8%) presented with acute abdominal pain and underwent appendectomy because acute appendicitis was suspected. Acute appendicitis was confirmed by histopathology in 18 (58%) cases. NETs of the appendix were not detected preoperatively in any of the patients. Among patients with confirmed acute appendicitis, most (n = 14; 77.8%) were found to have non-perforated acute appendicitis. In most children, the tumor was located at the tip of the appendix (n = 18; 58.1%), and the majority of tumors had a diameter of less than 1 cm (n = 21, 67.7%). The mitotic count (n = 25, 80.6%) and Ki-67 proliferation index (n = 23, 74.2%) were low in most patients, so most tumors were classified as NET G1 (n = 25, 80.6%), while NET G2 and NET G3 were found in four (12.9%) and two (6.5%) patients, respectively. All children were treated with appendectomy only. The median follow-up time was 54 (IQR: 24, 95) months. Conclusions: The incidence of appendiceal NET among pediatric patients is very low. NET occurs most frequently in adolescents, with a female predominance. Most tumors are less than 1 cm in diameter, located at the tip, and associated with non-perforated appendicitis. Appendectomy is the treatment of choice, and major surgery was not necessary in our cohort.