Search Results (84)

Background: Intrapericardial extralobar pulmonary sequestration (ELPS) is an exceptionally rare congenital malformation. The location may mimic neoplastic lesions and poses diagnostic and surgical challenges. We present a new case and a systematic review of the literature. Case Presentation: A 3-month-old male infant was referred for evaluation of a congenital intrathoracic mass suspected to be an extralobar sequestration. However, intrapericardial location was not recognized. MRI and CT demonstrated a circumscribed lesion with arterial supply from the right pulmonary artery. Thoracoscopic exploration was attempted but converted to sternotomy. The mass was excised en bloc. Histopathological analysis confirmed extralobar pulmonary sequestration with cystic components, consistent with a hybrid lesion. Postoperative recovery was uneventful. Methods: A systematic literature review was conducted according to PRISMA guidelines across PubMed, Scopus and Embase databases, including only histologically confirmed intrapericardial ELPS. Results: Ten cases were identified. Including the present case, eleven cases have been reported. Prenatal detection occurred in 54% of cases. Fetal demise occurred in two cases due to cardiac tamponade. Aberrant arterial supply originated from the pulmonary arteries in 54% of patients and venous drainage into the right atrium or superior vena cava in 45%. Surgery via sternotomy was performed in all cases with excellent outcomes. Conclusions: Intrapericardial ELPS is an exceptionally rare but surgically curable entity. Early recognition and complete resection are essential to prevent life-threatening complications. This systematic review highlights a consistent vascular pattern supporting its classification as a unique embryologic variant within the CPAM–sequestration spectrum. Full article

Background/Objectives: We aimed to assess the risks and benefits of early, intermediate, and late vesicoamniotic shunting (VAS) for lower urinary tract obstruction (LUTO) treated at a single center. Methods: A retrospective analysis of 104 fetuses with LUTO that underwent VAS was carried out. The investigation covered the time between the first VAS and postnatal hospital discharge. The cases were analyzed in three groups: Group I fetuses underwent their first intervention ≤ 16 + 0 weeks; Group II fetuses underwent intervention between 16 + 1 and 24 + 0 weeks; and Group III fetuses underwent intervention > 24 + 0 weeks of gestation. Maternal morbidity, pre- and postnatal complications, fetal and neonatal mortality, and urological and renal outcomes were assessed. Results: All mothers tolerated the procedures well. Mean gestational age at delivery was 35.4 weeks of gestation. In total, 78 of 104 children were born alive (75%). Postnatal survival was 72 of 78 (92.3%). Overall survival was 72 of 104 (69.2%). Overall, 61.2% of children survived from Group I; 69% of children survived from Group II; and 100% of Group III children survived from the first VAS to postnatal hospital discharge. A total of 41 of 72 survivors (56.9%) were discharged with normal renal function. For 80%, normal renal function was highest after early VAS ≤ 16 + 0 weeks of gestation (Group I), whereas 31% of Group II and 61% of Group III survived with normal renal function. Postnatal pulmonary hypoplasia occurred in 13.3% of the cases of Group I, 40% of Group II, and 23.1% of Group III. Conclusions: The findings of this retrospective study confirm that VAS ≤ 16 + 0 weeks of gestation is the best chance for preserved renal function after birth. However, when LUTO is treated later in gestation, fetuses can also benefit from VAS. Pre-interventional sonography may aid in selecting those with the highest chances for a better renal outcome. Full article

Spina bifida (SB) is a congenital malformation of the central nervous system (CNS), resulting from incomplete closure of the neural tube (NT) during early embryogenesis. Myelomeningocele (MMC), the most severe form of SB, leads to progressive neurological, orthopedic, and urological dysfunctions due to both NT developmental failure and secondary intrauterine injury (“two-hit hypothesis”). Prenatal repair of MMC has progressed considerably since the Management of Myelomeningocele Study (MOMS, 2011) trial, which showed that open fetal surgery can decrease the need for shunting and improve motor function, although it carries significant maternal risks. To address these limitations, minimally invasive techniques have been developed, with the goal of achieving similar benefits for the fetus while reducing maternal morbidity. Recent research has shifted toward regenerative strategies, integrating mesenchymal stem cells (MSCs), bioengineered scaffolds, and cell-derived products to move beyond mere mechanical protection toward true NT repair. Preclinical studies in rodent and ovine models have shown that amniotic- and placenta-derived MSCs exert neuroprotective and immunomodulatory paracrine effects, promoting angiogenesis, modulating inflammation, and supporting tissue regeneration. Minimally invasive, cell-based interventions such as Transamniotic Stem Cell Therapy (TRASCET), in preclinical rodent models, offer the possibility of very early treatment without hysterotomy, although translation remains limited by the lack of large-animal validation and long-term safety data. In parallel, advances in biomaterials, nanostructured scaffolds, and exosome-based therapies reinforce a regenerative paradigm that may improve neurological outcomes and quality of life in affected children. Ongoing translational studies are essential to optimize these approaches and define their safety and efficacy in clinical settings. This review provides an integrated overview of embryological mechanisms, diagnostic strategies, and prenatal therapeutic advances in SB treatment, with emphasis on prenatal repair, fetal surgery and emerging regenerative approaches. Full article

Background: Prenatal detection of congenital lung lesions has increased with improved imaging. These abnormalities are safely treated with thoracoscopic lobectomy. We implemented an enhanced recovery after surgery (ERAS) protocol to standardize care and aim to evaluate its safety and efficacy compared to a non-ERAS cohort. Methods: A single-center retrospective chart review was conducted for twenty patients (n = 10 ERAS, n = 10 non-ERAS) undergoing thoracoscopic lobectomy from 2014–2024. Results: ERAS patients were generally younger at the time of surgery (ERAS: 4.25 ± 2.76 months vs. non-ERAS: 6.45 ± 6.78 months, p = 0.17). Postoperative length of stay was shorter in ERAS (1.77 ± 0.60 days) vs. non-ERAS patients (5.25 ± 3.79 days, p = 0.03) as well as chest tube duration (ERAS: 1.44 ± 0.73 days vs. non-ERAS 3.64 ± 2.38 days, p = 0.01). ERAS patients received lower amounts of opioid analgesics compared to non-ERAS (p = 0.0046). Use of the ERAS protocol also decreased cost for the healthcare system compared to non-ERAS patients (p = 0.0037). ERAS patients had no reintubations or prolonged air leaks (defined as >48 h), compared to four reintubations (p = 0.04) and three prolonged air leaks (p = 0.07) in the non-ERAS group. Crucially, there were no complications in the ERAS group, whereas five non-ERAS patients experienced Clavien–Dindo level III (one IIIa, two IIIb, two IVa) complications (p = 0.02). Conclusions: Our preliminary findings demonstrate the successful integration of a novel ERAS protocol in pediatric thoracoscopic lobectomies and its efficacy in reducing standard post-operative recovery times without an increased rate of complications. Earlier discharge in the ERAS group constitutes less healthcare burden with improved resource utilization and less family, work, and social disruption. Full article

Background/Objectives: Patau syndrome (trisomy 13) is a rare genetic disorder with high mortality, and poor prognosis. Patients surviving beyond infancy usually present with severe psychomotor delays, failure to thrive, intellectual disabilities and seizures. Female sex and mosaic trisomy 13 are considered positive prognostic factors. Methods: Here we report an 8-year-old female patient with Patau syndrome, diagnosed prenatally, born prematurely at 35 + 4 weeks of gestation via vaginal delivery as a third child of 33 years old healthy and unrelated parents. The birth weight was 2087 g, Apgar scored 9 at 1 min and 10 at 5 min, also self-ventilating in room air since birth. The patient has several associated congenital abnormalities; however, medical adjustments such as multiple surgeries, PEG, hearing aids, glasses, anti-epileptic medications, and suction support the girl’s daily life. The patient attends a primary school with specialist support that fosters her physical and sensory development and promotes progress in communication. Despite the numerous obstacles she faces, the girl’s journey demonstrates remarkable growth and development with the support of an interdisciplinary care team. It highlights the critical role of personalized care and early intervention. Conclusions: Due to the increasing survival rates of patients with Patau syndrome, complex and multidisciplinary care is required for both the patients and their families to achieve the best possible outcomes and ensure proper care, growth, and development of the child. All medical procedures must be thoroughly assessed for potential complications and viable improvement in quality of life. Full article

Background: The severity of postnatal symptoms in patients with spina bifida aperta (SBA) is also determined by secondary factors that damage the exposed neural tissue throughout gestation. The purpose of this report is to present clinical cases, from 2010 to 2025, and a new hypothesis for a nonsurgical means of prenatal secondary prophylaxis. Patients: Eight fetuses underwent minimally invasive fetoscopic patch closure of SBA. After delivery, an unusual degree of prenatal patch healing was observed. Furthermore, time to complete postnatal skin closure was shorter (mean ± SD: 22.00 ± 6.53 days) than in 31 contemporary patients without dietary restrictions (Mean ± SD: 44.35 ± 11.91 days; p < 0.001). Four of the eight prenatally operated women reported that they ate plant-based food most of the time but also some meat throughout gestation; the other four were strict vegetarians. Two other fetuses with SBA at the level of the second and third lumbar vertebrae, respectively, had not undergone prenatal surgery. Following delivery, they presented with a markedly preserved surface of the neural cord and exhibited L5 motor function. One mother of the postnatally operated patients was on a vegetarian diet; the other one on a vegan diet. Conclusions: These early clinical observations point to the possibility that maternal plant-based diets might ameliorate the loss of neurological function and facilitate wound healing in human fetuses with SBA. If this impact of maternal dietary habits holds true, it opens the door to a far-reaching, easily available, non-invasive secondary prophylaxis in prenatally operated and unoperated fetuses with SBA and some other malformations. Full article

Objectives: Myelomeningocele is one of the most common dysraphic defects. Does shortening the time of exposure to the toxic effects of amniotic fluid and mechanical trauma in utero on the herniated spinal cord and spinal nerves, thanks to prenatal surgery, reduce the risk of hydrocephalus with improved musculoskeletal function and better function of the urinary and digestive systems? The aim of the study was to compare the clinical effects of prenatal and postnatal surgery for myelomeningocele in pediatric patients. Methods: Comparison of urological, digestive and motor function in children following prenatal versus postnatal repair of myelomeningocele. The study group consisted of 110 children- 46 operated prenatally and 64 patients postnatally. Information about the children’s assessment of shunt-dependent hydrocephalus, motor skills, bladder and bowel function was obtained from a validated survey questionnaire completed by the children’s parents. Results: In the prenatal group, there was a significantly (p = 0.011) lower percentage of hydrocephalus treated with a shunt (45.71%) compared to the postnatal group (78.26%). The prenatal group revealed a lower percentage of paresis (p = 0.0422) and contractures of the lower limbs (p = 0.0108) and varus deformity (p = 0.0272). Also, in the prenatal group, fewer children move with only the use of a wheelchair (p = 0.0280) and more move independently or with orthopedic equipment (p = 0.0280). In prenatal children, the overall grade of vesico-ureteral reflux was significantly lower (p = 0.0105) and there was also a higher percentage of children with self-controlled defecation (p = 0.0395) and fewer children using enemas (p = 0.0269) and oral pharmacological agents (p = 0.0026). Conclusions: In children with myelomeningocele operated prenatally, compared to the postnatal group, shunt-dependent hydrocephalus and bladder and bowel incontinence were observed with significantly less frequency, and there was better musculoskeletal function. More children operated prenatally moved independently or with orthopedic equipment, and fewer used an orthopedic wheelchair. Further studies, particularly in even larger patient groups, are required to assess clinical benefits of prenatal surgery for children with myelomeningocele. Full article

Background: Polypoid endometriosis is a rare variant of endometriosis that presents as a tumorous mass, making it difficult to differentiate it from a malignant tumor. It usually occurs in perimenopausal women or those undergoing hormone therapy, and its presence in a young pregnant woman is extremely uncommon. Case Presentation: This article describes a rare instance of polypoid ovarian endometriosis in a pregnant woman, a condition with few documented cases in the medical literature. An adnexal mass was discovered incidentally during a routine prenatal ultrasound, with imaging features that raised the suspicion of a neoplastic process and prompted surgery to exclude malignancy. However, histopathological examination of the excised lesion confirmed features compatible with polypoid endometriosis, without revealing evidence of cancer. This case highlights the diagnostic challenges of differentiating polypoid endometriosis from ovarian neoplasms, especially during gestation, where imaging findings can be ambiguous. In addition, the hormonal environment inherent in pregnancy may exacerbate the proliferative behavior of endometriotic lesions, thus complicating clinical evaluations. The presence of an adnexal mass in such a setting often requires careful evaluation to balance the risks of surgery with the potential consequences of delayed diagnosis. The data presented emphasize the importance of an accurate diagnosis. In conclusion, a well-coordinated approach ensures the protection of maternal and fetal health. Conclusions: By prioritizing accurate diagnosis and personalized treatment plans, physicians can minimize complications and improve outcomes for both mother and child. Full article

Background: Pulmonary hypertension (PH) in newborns is a rare but serious condition and potentially life-threatening disorder, often initially confused with congenital heart disease due to overlapping echocardiographic findings in the late third trimester. Evidence on prenatal predictors of postnatal PH is limited. We aimed to describe detailed third-trimester echocardiographic findings associated with postnatal PH in infants with prenatally suspected CoA based on a retrospective case series. Methods: We reviewed 18 years of fetal echocardiography (2004–2022) in a tertiary maternal–fetal–neonatal center. We identified fetuses with suspected coarctation of the aorta (CoA) in late gestation who were delivered at term (≥37 weeks) and had prolonged neonatal hospitalization (>10 days) without cardiac surgery or catheterization. Z-scores for cardiac dimensions were calculated. All examinations were performed by experienced fetal cardiologists. Postnatal evaluations confirmed PH based on echocardiographic and clinical findings. Results: Among 19,836 fetuses examined, 138 were prenatally suspected of CoA. In 70 cases, this diagnosis was not confirmed postnatally (false positives). Of these, eight infants (0.04% of the total cohort) developed postnatal PH. Postnatally, all eight neonates required intensive care. Prenatal features included ventricular/atrial disproportion (7/8), cardiomegaly (8/8), main pulmonary artery dilatation (10.2 ± 2.2 mm; Z-score +2.7 ± 1.3), tricuspid regurgitation (8/8), pulmonary regurgitation (4/8), and interventricular septal hypertrophy (>4.5 mm in 5/8). Postnatal evaluations confirmed PH based on echocardiographic criteria (elevated right ventricular pressure, septal flattening/bowing, right ventricular dilation or dysfunction, and abnormal shunt direction) combined with clinical compromise. All infants received prostaglandin E1 (PGE1) initially; none required extracorporeal membrane oxygenation-ECMO. Three died, while five survived with medical management (oxygen, inhaled nitric oxide, sildenafil). Conclusions: Specific functional abnormalities on late third-trimester echocardiography may indicate impaired pulmonary vascular adaptation and predict postnatal PH, particularly in cases initially suspected of CoA. Recognition and awareness of these findings can guide delivery planning, neonatal surveillance, and timely intervention. Prospective multicenter studies are needed to validate these associations and refine prenatal screening protocols. Full article

Obesity is a multifactorial chronic disease resulting from complex genetic, molecular, environmental, and behavioral interactions. Its prevalence rises worldwide, affecting cardiovascular, metabolic, oncological, hepatic, respiratory, and skeletal health. Beyond caloric excess, genetic predisposition, epigenetic modifications, gut microbiota dysbiosis, endocrine-disrupting agents, circadian misalignment, and intergenerational and prenatal influences are critical determinants of obesity risk. Core pathophysiological mechanisms include insulin resistance, dyslipidemia, chronic low-grade inflammation, and neuroendocrine dysregulation of appetite and energy balance. These processes are linked to comorbidities such as type 2 diabetes, hypertension, atherosclerosis, fatty liver disease, sleep apnea, osteoporosis, and cancer. Advances in molecular profiling, metabolic phenotyping, and body composition analysis are refining obesity classification and enabling precise risk stratification. Current therapeutic strategies include behavioral interventions addressing stress-related mechanisms, pharmacological therapies such as GLP-1 receptor agonists, emerging gene therapy approaches, and bariatric surgery. Gut-derived hormones (leptin, ghrelin, GLP-1, PYY, CCK) are recognized as pivotal regulators of appetite and weight. Preventive strategies increasingly emphasize circadian alignment, while epigenetic inheritance and prenatal exposures such as maternal obesity or smoking highlight early-life programming in future metabolic health. Additionally, artificial intelligence-based platforms and personalized nutrition provide innovative opportunities for individualized prevention and management. This review synthesizes contemporary evidence on the biological basis, systemic consequences, preventive strategies, and evolving therapeutic modalities of obesity, affirming its recognition as a complex chronic disease requiring personalized, multidisciplinary care. Full article

Objectives: The objectives are to evaluate the influence of different maternal characteristics on ultrasound image quality and operator satisfaction, and to assess, preliminarily, a rating scale to stratify the difficulty level of ultrasound examination in early gestation. Methods: A multicentric observational study of ultrasound scans was carried out on singleton pregnant women undergoing routine gestational ultrasound at 11–14 weeks and 19–21 weeks of gestation at two Prenatal Care Centers in the Apulia region (Southern Italy). Inclusion criteria included the presence of one or more limiting features, i.e., obesity, retroverted uterus, myomas, previous abdominal surgery, and limited echo-absorption. Each woman was given an overall pre-echographic limiting score from 0 to 9. The outcome measure was the operator’s satisfaction with the examination, scored on a Likert scale. Nested linear regression models (raw, semi- and fully adjusted) were built for each of the two trimesters on the pre-ecographic limiting score (0–9 points) as dependent variables, with the operator’s satisfaction as the regressor. Results: The whole sample included 445 pregnant women. The two-center samples did not show statistically different baseline features. The operator’s satisfaction with the sonographic examination was significantly (and inversely) related to the pre-echographic limiting score, regardless of the mother’s age, the operator performing the ultrasound, the Hospital Center where the ultrasound examination was performed, and the duration of the sonographic examination. Conclusions: A number of maternal conditions need to be monitored for good ultrasound performance; using a specific rating scale to stratify the level of difficulty of the ultrasound examination at early gestation could represent a potentially useful tool, although it requires further validation. Full article

Background/Objectives: The arterial switch operation (ASO) has been performed in the neonatal period as an anatomical correction for d-transposition of the great arteries since the 1980s. As the population of adult congenital heart disease patients grows, it is essential for healthcare providers across various disciplines to comprehend the complexities of these patients. We report on outcomes up to the third decade after ASO. Methods: All patients who underwent ASO from May 1985 to December 2020 were included, and a retrospective chart review with follow-up until December 2021 was conducted. Additionally, vital status verification (90.3% complete) was performed through the national health insurance. Survival analysis and competing risk analysis were performed to determine outcomes in the third decade after ASO. Results: One-hundred-ninety-five patients (72.3% male; median age at surgery 6 days; median weight at surgery 3.4 kg) underwent ASO from May 1985 to December 2020. Patients with a prenatal diagnosis showed a lower rate of preoperative cardiac decompensation (p = 0.017). Early in-hospital mortality was 8.7%, and no early in-hospital deaths occurred in the study era from 2006 to 2020. Four late deaths occurred, and the Kaplan–Meier estimated survival of the 178 hospital survivors was 98.3% ± 1.2% at 10 years, 96.8% ± 1.9% at 20 years and 92.4% ± 4.7 at 30 years. The cumulative incidence of left ventricular outflow tract (LVOT) reoperation after ASO was 1.3% at 10 years, 3.4% at 20 years and 11.3% at 30 years. The cumulative incidence of right ventricular outflow tract (RVOT) reoperation after ASO was 7.2% at 10 years and 17.5% at 20 and 30 years. Conclusions: Overall long-term survival of the hospital survivors is good. The reoperation rate on the LVOT is favorable. Percutaneous interventions, if feasible after the Lecompte maneuver, might pose an option to delay the more common reoperations on the RVOT, though further studies are needed to determine their long-term impact. Full article

Background: Bronchopulmonary sequestration (BPS) is a portion of dysplastic pulmonary tissue not communicating with the tracheobronchial tree. Its vascularization is provided by abnormal arteries originating from the systemic circulation. Previous papers report different venous drainage (VD) between intralobar (ILS) and extralobar sequestration (ELS), respectively, into the pulmonary or the systemic veins. The aim of our study is to investigate the VD as independent predictor of the type of PS. Methods: We retrospectively reviewed 41 pediatric patients who underwent surgery for BPS between 2016 and 2023 in two centers. Patients treated prenatally and without pre-operative CT were excluded. BPS were classified either intra or extra lobar. Pre-operative radiological BPS classification prediction was assessed based on intra-operative thoracoscopic findings. Lesion VD and sharp margins (SM) on pre-operative CT were assessed as predicting factors. Results: A total of 36 patients were included: 24 ILS and 12 ELS. All patients underwent thoracoscopic resection without major complications. VD is significantly different between ILS and ELS: 96% of ILS drain into the pulmonary system while 83% of ELS drain into a systemic vein (p < 0.00001). On pre-operative CT, the absence of SM predicts for an ILS in 100% of cases. SM has a PPV for ELS of 85.7%. The combination of SM and systemic VD has a PPV for ELS of 91.7%. Conclusions: In our series, the absence of SM alone is suggestive for an ILS in 100% of cases, while the combination of SM and systemic VD is more accurate in predicting ELS. This may help improving surgical planning and family consultation. Full article

Artificial intelligence is rapidly transforming pediatric craniofacial surgery by enhancing diagnostic accuracy, improving surgical precision, and optimizing postoperative care. Machine learning and deep learning models are increasingly used to analyze complex craniofacial imaging, enabling early detection of congenital anomalies such as craniosynostosis, and cleft lip and palate. AI-driven algorithms assist in preoperative planning by identifying anatomical abnormalities, predicting surgical outcomes, and guiding personalized treatment strategies. In cleft lip and palate care, AI enhances prenatal detection, severity classification, and the design of custom therapeutic devices, while also refining speech evaluation. For craniosynostosis, AI supports automated morphology classification, severity scoring, and the assessment of surgical indications, thereby promoting diagnostic consistency and predictive outcome modeling. In orthognathic surgery, AI-driven analyses, including skeletal maturity evaluation and cephalometric assessment, inform optimal timing and diagnosis. Furthermore, in cases of craniofacial microsomia and microtia, AI improves phenotypic classification and surgical planning through precise intraoperative navigation. These advancements underscore AI’s transformative role in diagnostic accuracy, and clinical decision-making, highlighting its potential to significantly enhance evidence-based pediatric craniofacial care. Full article

Background and Objectives: Congenital duodenal obstruction (CDO) is a very rare anomaly with an incidence of 1 in 5000–10,000 live births. Annular pancreas is one of the reasons for CDO and is defined as the pancreatic tissue encircling the duodenum. The exact cause of annular pancreas remains unclear. Materials and Methods: A retrospective study was conducted on all prenatally diagnosed cases of CDO, with the diagnoses and ethiology confirmed by surgery after birth from 1 January 2018 to 1 January 2024. The cases suspected of having CDO in their fetuses underwent ultrasound evaluations on a weekly or biweekly basis. The cohort was divided into two groups, “CDO with annular pancreas” and “CDO without annular pancreas”, in order to compare the clinical characteristics and outcomes. Results: A total of 34 cases of CDO were detected prenatally, with 30 of these cases being confirmed through postnatal surgical interventions. The underlying ethiology was duodenal atresia in 15 cases (50%), duodenal web in 2 cases (6.6%) and annular pancreas in 13 cases (43.3%). All cases had a dilated stomach and double bubble sign. Polyhydramnios was identified in all cases except for one. Three cases were terminated and intrauterine demise was observed in one case. Nine of the cases (33%) died in the postnatal period. In 19 cases (55.9%), CDO was associated with chromosomal abnormalities. Chromosomal abnormalities were significantly more common in the cases of CDO with annular pancreas (p = 0.033). Conclusions: The prenatal diagnosis of CDO is mostly based on findings of double bubble and polyhydramnios. An annular pancreas, although rare, is an important cause of neonatal duodenal obstruction. An accurate diagnosis is usually performed during a laparotomy. Given the higher rates of chromosomal abnormalities in cases of annular pancreas, it is clear that more reliable markers or imaging techniques are needed to detect the ethiology of CDO in the prenatal period. Full article