Search Results (74)

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

Amniotic band syndrome is a constrictive phenomenon in fetal development that can provoke limb autoamputation, malformation, trunk division, and umbilical cord strangulation. The latter two complications will ultimately lead to fetal demise if left untreated. If detected early enough, select cases may benefit from prenatal resection of the amniotic bands, thus preventing amputation and fetal death. Yet, especially in the presence of complete chorioamniotic separation, these procedures are rare, technically difficult, and not without significant risk. Objectives: The purpose of this report is to present the surgical technique and outcome of a challenging percutaneous fetoscopic intervention in a human fetus with amniotic band constrictions of a fetal thigh, retroplacental hematoma, partial placental abruption, subtotal chorioamniotic separation, and multiple amniotic bands encircling the umbilical cord. Methods: Minimally invasive, fetoscopic surgery to salvage the fetal life and lower leg was performed at 22 + 2 weeks of gestation under general maternofetal anesthesia. Results: Total resection of all amniotic bands was achieved, notwithstanding the aforementioned challenges. No surgical complications were observed. Despite preterm delivery at 25 + 4 weeks of gestation, the postnatal experience for the infant was favorable and uncomplicated as it furthermore benefitted from neonatal intensive care. At almost three years of age, the child remains healthy and demonstrates normal function of the formerly constricted leg. Conclusions: Our case shows that the combination of tested percutaneous fetoscopic techniques, high-risk obstetrics, and modern neonatology can overcome multiple obstacles in order to save a fetal patient stuck in a near-hopeless situation. Full article

Congenital heart defects (CHDs) are the most common congenital defect, occurring in approximately 1 in 100 live births and being a leading cause of perinatal morbidity and mortality. Of note, approximately 25% of these defects are classified as critical, requiring immediate postnatal care by pediatric cardiology and neonatal cardiac surgery teams. Consequently, early and accurate diagnosis of CHD is key to proper prenatal and postnatal monitoring in a tertiary care setting. In this scenario, fetal echocardiography is considered the gold standard imaging ultrasound method for the diagnosis of CHD. However, the availability of this examination in clinical practice remains limited due to the need for a qualified specialist in pediatric cardiology. Moreover, in light of the relatively low prevalence of CHD among at-risk populations (approximately 10%), ultrasound cardiac screening for potential cardiac anomalies during routine second-trimester obstetric ultrasound scans represents a pivotal aspect of diagnosing CHD. In order to maximize the accuracy of CHD diagnoses, the views of the ventricular outflow tract and the superior mediastinum were added to the four-chamber view of the fetal heart for routine ultrasound screening according to international guidelines. In this context, four-dimensional spatio-temporal image correlation software (STIC) was developed in the early 2000s. Some of the advantages of STIC in fetal cardiac evaluation include the enrichment of anatomical details of fetal cardiac images in the absence of the pregnant woman and the ability to send volumes for analysis by an expert in fetal cardiology by an internet link. Sequentially, new technologies have been developed, such as fetal intelligent navigation echocardiography (FINE), also known as “5D heart”, in which the nine fetal cardiac views recommended during a fetal echocardiogram are automatically generated from the acquisition of a cardiac volume. Furthermore, artificial intelligence (AI) has recently emerged as a promising technological innovation, offering the potential to warn of possible cardiac anomalies and thus increase the ability of non-cardiology specialists to diagnose CHD. In the early 2010s, the advent of 3D reconstruction software combined with high-definition printers enabled the virtual and 3D physical reconstruction of the fetal heart. The 3D physical models may improve parental counseling of fetal CHD, maternal–fetal interaction in cases of blind pregnant women, and interactive discussions among multidisciplinary health teams. In addition, the 3D physical and virtual models can be an useful tool for teaching cardiovascular anatomy and to optimize surgical planning, enabling simulation rooms for surgical procedures. Therefore, in this review, the authors discuss advanced image technologies that may optimize prenatal diagnoses of CHDs. Full article

Objectives: The aim of this study was to evaluate prenatal ultrasound features, fetal postnatal outcomes, and the need for postnatal surgery in the suspicion of ovarian torsion. Methods: We included patients with a singleton pregnancy with a suspicion of ovarian fetal cyst referred to our center. Data derived from prenatal ultrasound evaluations, delivery, and postnatal follow-up were then extracted from the hospital registers. Results: The ultrasound features of 32 fetal ovarian cysts and related neonatal outcomes were analyzed. The mean gestational age at diagnosis was 32 weeks (28–36), while the mean diameter of the cyst diagnosis was 34.8 ± 13.2 mm. In 78.1% of cases, the cysts did not change their characteristics during pregnancy, while in 9.4%, they increased their dimensions, and in 12.5%, they reduced their size. In 78.1% of cases, the diagnosis was confirmed postnatally, and in 40% of cases, a spontaneous regression occurred during follow-up. Surgery was performed in 60% of cases, and most of the time (66.7%), an adnexectomy was required. Conclusions: An unfavorable outcome was associated with cystic dimensions and ultrasound feature modifications during pregnancy. However, our study demonstrated that a hemorrhagic content is not always indicative of adnexal torsion, and spontaneous resolution may occur. In addition, only a few of the simple anechoic cysts managed surgically presented with necrosis at histopathological examination; therefore, a conservative approach might be proposed in those cases. Full article

(1) Background: Fetal surgery for meningomyelocele (MMC) should reduce the occurrence of Arnold–Chiari malformations, hydrocephalus, the associated need for craniocervical decompression, and the need for cerebrospinal fluid shunt insertion. Fetal surgery should improve ambulatory status. (2) Methods: We used retrospective analysis of the documentation and descriptive statistics to summarize the clinical data and measured MRI parameters. The neurosurgical results are presented as the frequency of findings in percentages and compared with the results of the Management of Myelomeningocele Study (MOMS). (3) Results: A total of eight patients who underwent prenatal correction of MMC between 2016 and 2020 participated. MRI detected Chiari II malformation in all patients during prenatal imaging and in 87.5% of the patients at the age of 12 months. Craniocervical decompression was used in 25% of the patients. Shunt-dependent hydrocephalus occurred in 50% of the cases. In 87.5% of the cases, the functional level exceeded the expected ambulatory status. (4) Conclusions: We present the clinical status of our patients. Analysis of the complete cohort confirmed that prenatal surgery is associated with a reduced occurrence of Chiari malformations and reduced associated occurrence of hydrocephalus. Specific lesion levels are not associated with the need for craniocervical decompression. The results of our study are valuable in prenatal counseling and important for treatment planning. Full article

Myelomeningocele (MMC) is a congenital birth defect of the spine and spinal cord, commonly treated clinically through prenatal or postnatal surgery by repairing the unclosed spinal canal. Having previously developed a PLA/PCL polymer smart patch for this condition, we aim to further expand the potential therapeutic options by providing additional cellular and biochemical support in addition to its mechanical properties. Bone morphogenetic proteins (BMPs) are a large class of secreted factors that serve as modulators of development in multiple organ systems, including the CNS. We hypothesize that our smart patch mitigates the astrogenesis induced, at least partly, by increased BMP activity during MMC. To test this hypothesis, neural stem or precursor cells were isolated from rat fetuses and cultured in the presence of Noggin, an endogenous antagonist of BMP action, with recombinant BMPs. We found that the developed PLA/PCL patch not only serves as a biocompatible material for developing neural stem cells but was also able to act as a carrier for BMP–Notch pathway inhibitor Noggin, effectively minimizing the effect of BMP2 or BMP4 on NPCs cultured with the Noggin-loaded patch. Full article

Background/Objectives: Truncus arteriosus communis (TAC) is a rare congenital heart defect characterized by a single arterial trunk that supplies systemic, pulmonary, and coronary circulations. This defect, constituting approximately 1–4% of congenital heart diseases, poses significant challenges in prenatal diagnosis, management, and postnatal outcomes. Methods: A retrospective analysis was conducted at the local tertiary referral center on cases of TAC diagnosed prenatally between 2019 and 2024. Additionally, a systematic literature review was performed to evaluate the accuracy of prenatal diagnostics and the presence of associated anomalies in fetuses with TAC and compare already published data with the local results. The review included studies that especially described the use of fetal echocardiography, the course and outcome of affected pregnancies, and subsequent management strategies. Results: The analysis of local prenatal diagnoses revealed 14 cases. Of the 11 neonates who survived to birth, the TAC diagnosis was confirmed in 7 instances. With all seven neonates undergoing surgery, the intention-to-treat survival rate was 86%, and the overall survival rate was 55%. By reviewing published case series, a total of 823 TAC cases were included in the analysis, of which 576 were diagnosed prenatally and 247 postnatally. The presence of associated cardiac and extracardiac manifestations as well as genetic anomalies was common, with a 22q11 microdeletion identified in 27% of tested cases. Conclusions: Advances in prenatal imaging and early diagnosis have enhanced the management of TAC, allowing for the detailed planning of delivery and immediate postnatal care in specialized centers. The frequent association with genetic syndromes underscores the importance of genetic counseling in managing TAC. An early surgical intervention remains crucial for improving long-term outcomes, although the condition is still associated with significant risks. Long-term follow-up studies are essential to monitor potential complications and guide future management strategies. Overall, a coordinated multidisciplinary approach from prenatal diagnosis to postnatal care is essential for improving outcomes for individuals with TAC. Full article

Background: Obesity rates have significantly increased globally, affecting up to 40% of women of childbearing age in the United States. While prenatal repair of open fetal spina bifida has shown improved outcomes, most fetal surgery centers exclude patients with a body mass index (BMI) ≥ 35 kg/m² based on criteria from the Management of Myelomeningocele Study (MOMS) trial. This exclusion raises concerns about healthcare equity and highlights a significant knowledge gap regarding the safety and efficacy of fetal spina bifida repair in patients with obesity. Objective: To review the current state of knowledge regarding open fetal surgery for fetal spina bifida in patients with obesity, focusing on safety, efficacy, and clinical considerations. Methods: A comprehensive literature search was conducted using the PubMed and EMBASE databases, covering articles from the inception of the databases to April 2024. Studies discussing fetal surgery for neural tube defects and documenting BMI measurements and their impact on surgical outcomes, published in peer-reviewed journals, and available in English were included. Quantitative data were extracted into an Excel sheet, and data synthesis was conducted using the R programming language (version 4.3.3). Results: Three retrospective studies examining outcomes of prenatal open spina bifida repair in a total of 43 patients with a BMI ≥ 35 kg/m² were identified. These studies did not report significant adverse maternal or fetal outcomes compared to patients with lower BMIs. Our pooled analysis revealed a perinatal mortality rate of 6.1% (95% CI: 1.76–18.92%), with 28.0% (95% CI: 14.0–48.2%) experiencing the premature rupture of membranes and 82.0% (95% CI: 29.2–98.0%) delivering preterm (<37 weeks). Membrane separation was reported in 10.3% of cases (95% CI: 3.3–27.7%), the mean gestational age at birth was 34.3 weeks (95% CI: 32.3–36.3), and the average birth weight was 2651.5 g (95% CI: 2473.7–2829.4). Additionally, 40.1% (95% CI: 23.1–60.0%) required a ventriculoperitoneal shunt. Conclusion: While current evidence suggests that fetal spina bifida repair may be feasible in patients with obesity, significant limitations in the existing body of research were identified. These include small sample sizes, retrospective designs, and a lack of long-term follow-up data. There is an urgent need for large-scale, prospective, multicenter studies to definitively establish the safety and efficacy of fetal spina bifida repair in patients with obesity. Such research is crucial for developing evidence-based guidelines, improving clinical outcomes, and addressing healthcare disparities in this growing patient population with obesity. Full article

Cannabigerol (CBG), a phytocannabinoid, has shown promise in pain management. Previous studies by our research group identified an increase in pain sensitivity as a consequence of prenatal hypoxia-ischemia (HI) in an animal model. This study aimed to investigate the efficacy of CBG in acute and chronic hyperalgesia induced by prenatal HI. A pharmacological screening was first conducted using hot plate and open-field tests to evaluate the antinociceptive and locomotor activities of animals administered with a 50 mg/kg oral dose of cannabis extract with a high CBG content. Prenatal HI was induced in pregnant rats, and the offspring were used to evaluate the acute antinociceptive effect of CBG in the formalin-induced peripheral pain model, while chronic antinociceptive effects were observed through spinal nerve ligation (SNL) surgery, a model used to induce neuropathic pain. Our results show that CBG exhibited an antinociceptive effect in the hot plate test without affecting the animals’ motor function in the open-field test. CBG significantly reduced formalin-induced reactivity in HI offspring during both the neurogenic and inflammatory phases. CBG treatment alleviated thermal and mechanical hypernociception induced by SNL. Biomolecular analysis revealed CBG’s ability to modulate expression, particularly reducing TNFα and Nav1.7 in HI male and female rats, respectively. These results highlight CBG as a potential antinociceptive agent in acute and chronic pain models, suggesting it as a promising therapeutic option without inducing motor impairment. Further research is needed to fully elucidate its mechanisms and clinical applications in pain management. Full article

Gastroschisis is a congenital anomaly characterized by herniation of abdominal contents via a defect in the anterior abdominal wall. Gastroschisis can manifest as simple or complex, with additional complications such as atresia, perforation, ischemia, necrosis, or volvulus. While prenatal screening and advancements in surgical techniques have improved outcomes, infants with complex gastroschisis cases pose significant challenges in neonatal care. Vanishing gastroschisis, a rare but dreaded complication with a mortality rate ranging from 10 to 70%, occurs when the abdominal wall closes around the herniated bowel, leading to strangulation. We present a case report focusing on the management of neonatal gastroschisis in a 36-week-old female infant with vanishing gastroschisis. The infant’s clinical course, including surgical interventions, complications, and multidisciplinary management, is discussed in detail. This case underscores the importance of a multidisciplinary approach in optimizing outcomes for infants with complex gastroschisis. Via this case report, we aim to provide insights into the complexities of neonatal gastroschisis management and advocate for a collaborative approach involving neonatology, pediatric surgery, infectious disease, and palliative care to improve outcomes and quality of life for affected infants. Full article

Fetal ventriculomegaly (VM) is a defect of the central nervous system, typically diagnosed during the second-trimester ultrasound in fetuses with an atrial diameter (AD) of >10 mm. Non-isolated ventriculomegaly (NIVM) is heterogeneous in nature, coexisting with additional intracranial and/or extracranial malformations and genetic syndromes, resulting in an unfavorable prognosis for the further development of the child. Both the pregnancy management and counseling are dependent on the findings of combined ultrasound/MRI, genetic testing, and gestational age at diagnosis. The purpose of this review is to propose a hypothesis that diagnostic advancements allow to define the process of identification of the isolated forms of VM (IVM). Based on the evidence presented in the literature, we consider whether prenatal decompression for severe isolated VM (ISVM) is supported by the experimental trials and whether it might be implemented in clinical practice. Also, we describe the evolution of the diagnostic methods and expert opinions about the previously used prenatal decompression techniques for ISVM. In conclusion, we introduce the idea that fetal surgery centers have either reached or nearly reached the necessary level of expertise to perform such procedures. Endoscopic cystoventriculostomy (ETV) appears to be the most promising, as it is associated with minimal perinatal complications and favorable neurological outcomes in the neonatal period. Randomized trials with long-term neurodevelopmental follow-up of children who underwent prenatal decompression due to ISVM are necessary. Full article