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SUMMARY OBJECTIVE: This study aimed to assess the perinatal outcomes of pregnancies with a prenatal diagnosis of congenital cystic adenomatoid malformation. METHODS: We conducted a retrospective cohort study based on information contained in the medical records of pregnant women whose fetuses had been prenatally diagnosed with congenital cystic adenomatoid malformation by ultrasonography. RESULTS: Sample analysis was based on 21 singleton pregnancies with confirmed isolated fetal congenital cystic adenomatoid malformations. The mean maternal±standard deviation age was 28±7.7 years. Types I, II, and III congenital cystic adenomatoid malformation were detected in 19% (4/21), 52.4% (11/21), and 28.6% (6/21), respectively. All fetuses presented with unilateral congenital cystic adenomatoid malformation (21/21) without associated anomalies, and 52.3% (11/21) were in the right lung. In total, 33.3% (7/21) of fetuses presented a “congenital cystic adenomatoid malformation volume ratio” >1.6 and were managed with maternal betamethasone administration. The mean gestational age at the time of steroid administration was 28.5±0.9 weeks, with a reduction in the lesion dimensions of 9.5% (2/21) (Types I and III of congenital cystic adenomatoid malformation). The mean gestational age at delivery was 38.7±2.4 weeks, and a cesarean section was performed in 76.2% (16/21) cases. Postsurgical resection was necessary for 23.8% (5/21) of the patients, and 4.7% (1/21) of them died because of respiratory complications after surgery. Pulmonary hypoplasia occurred in 9.5% (2/21) of the patients, and 4.7% (1/21) of them died because of respiratory insufficiency. The survival rate was 90.5% (19/21), and 57.2% (12/21) remained asymptomatic. CONCLUSION: Despite the isolated prenatal diagnosis of congenital cystic adenomatoid malformation, which showed good survival, congenital cystic adenomatoid malformation is associated with significant perinatal morbidity. Maternal betamethasone administration did not significantly reduce fetal lung lesion dimensions.

Background Risk for infection and potential malignant degeneration are the most common arguments for resecting asymptomatic Congenital Pulmonary Airway Malformations (CPAM). We aimed to investigate if CT- imaging characteristics can be used to predict histopathological features, by using an objective quantitative CT scoring method. Methods Archival CPAM tissue samples were histologically re-assessed and patients who had a pre-operative volumetric CT-scan were included. Lung disease was quantified using the newly-developed congenital lung abnormality quantification(CLAQ) scoring method and obtained percentages were used to predict histopathological signs of inflammation and presence of mucinous proliferation (MP). Because MP is presumed a precursor for mucinous adenocarcinoma in situ (AIS) this method was also used to compare CT-scans of patients with AIS to those with only CPAM. Results Thirty-three CPAM patients were included of which 13(39%) had histological signs of inflammation and 8(24%) had a MP. Patients with inflammation had a significantly smaller lesion (14% vs 38%) while those with MP had more extensive disease (54%vs17%). Patients with AIS had a significantly smaller lesion compared to CPAM patients (5%vs29%). Significant predictors for inflammation were smaller lesion size and percentage hypodensity within lesions while a larger lesion size and percentage parenchymal hyperdensity (solid lung tissue components) were predictors for MP as well as AIS. Conclusions Smaller CPAM lesions may be more susceptible to inflammation while larger lesions may be associated with the presence of MP. Parenchymal hyperdensity is found as a predictor for MP as well as AIS and should therefore elicit more extensive gross sampling. Level of evidence Level III.

Lung ultrasound (LU) is a noninvasive, bedside imaging technique that is attracting growing interest in the evaluation of neonatal respiratory diseases. We conducted a nationwide survey of LU usage in Italian neonatal intensive care units (NICUs).A structured questionnaire was developed and sent online to 114 Italian NICUs from June to September 2021.The response rate was 79%. In the past 4 years (range: 2-6), LU has been adopted in 82% of Italian NICUs. It is the first-choice diagnostic test in 23% of the centers surveyed. The main LU diagnostic applications reported were: pneumothorax (95%), respiratory distress syndrome (89%), transient tachypnea of the newborn (89%), plural effusion (88%), atelectasis (66%), pneumonia (64%), bronchopulmonary dysplasia (43%), congenital pulmonary airway malformation (41%), and congenital diaphragmatic hernia (34%). Thirty percent of participating centers calculated LU score routinely, but only seven units used it to predict the need for surfactant replacement. Sixty-six percent of respondents learned the LU technique via a self-training process, while 34% of them visited an expert in the field for one-to-one tuition.LU has a widespread use in Italian NICUs. However, the use of LU is extremely heterogeneous among centers. There is an urgent need to ensure standardization of clinical practice guidelines and to design and implement a formalized and accredited training program.

The benefit of elective resection of congenital lung malformations continues to be debated. Proponents of resection endorse a decreased risk of respiratory complications as one indication for surgery. Our study aimed to compare the prevalence of respiratory infections in cases, before and after resection of congenital lung malformations, to controls without a history of congenital lung malformation.We performed a retrospective cohort study of children born from 1991 to 2007 who underwent congenital lung malformation resection. Patients were identified from Winnipeg´s Surgical Database of Outcomes and Management (WiSDOM), and a 10:1 date-of-birth matched control group was generated from a population-based administrative data repository. International Classification of Disease codes were used to assess pulmonary infection outcomes. Relative rates (RR) were calculated to compare the frequency of pneumonia, respiratory infections and influenza between cases and controls.We included 31 congenital lung malformation cases and 310 controls. Cases consisted of 14 (45.16%) congenital pulmonary airway malformations, 9 (29.03%) bronchopulmonary sequestrations and 8 (25.81%) hybrid lesions. Before resection, pneumonia was more common in cases than controls (RR 6.85; 95%CI 3.89, 11.9), while the risk of acute respiratory infections (RR 1.21; 95%CI 0.79, 1.79) and influenza (RR 0.46; 95%CI 0.01, 3.22) were similar to controls. Post-resection, the risk of pneumonia (RR 9.75; 5.06, 18.50) was still higher in cases than controls, and respiratory infections (RR 1.77; 95%CI 1.20, 2.53) and influenza (RR 3.98; 95%CI 1.48, 9.36) were more common in cases than controls.Our study demonstrated that after resection of congenital lung malformations, children experience more frequent respiratory infections compared to the general population. Resection does not eliminate the increased risk of pneumonia.

To review data on the use of corticosteroids for the treatment of fetuses with high-risk congenital pulmonary adenomatoid malformation (CPAM). Integrative review based on the literature available on MEDLINE and LILACS, including articles published until November, 2020. The initial search resulted in 87 articles, 4 of which were selected for analysis, with all of them being retrospective descriptive observational studies. In the group of fetuses that received only a single corticosteroid cycle, the hydrops resolution rate was 70%, and the survival rate was 83.8%. In fetuses treated with 2 or more cycles of corticosteroids, there was an improvement in the condition of hydrops or edema in a single body compartment in 47%, and survival of 81.8% of the fetuses. The use of corticosteroids for the prenatal treatment of high-risk CPAM appears to be associated with an improvement in perinatal outcomes. Revisar os dados sobre o uso de corticoide no tratamento de fetos com malformação adenomatoide pulmonar congênita (MAPC) de alto risco. MéTODOS: Revisão integrativa com base na literatura disponível no MEDLINE e LILACS, incluindo artigos publicados até novembro de 2020. A busca inicial resultou em 87 artigos, dos quais 4 foram selecionados para análise, todos tratando-se de estudos observacionais descritivos retrospectivos. No grupo de fetos que recebeu apenas um único ciclo de corticosteroide, a taxa de resolução da hidropsia foi de 70% e a taxa de sobrevida de 83,8%. Em fetos tratados com 2 ou mais ciclos de corticosteroides, houve melhora do quadro de hidropsia ou edema em um único compartimento corporal em 47% dos fetos e taxa de sobrevida de 81,8%. CONCLUSãO: O uso de corticosteroides para o tratamento pré-natal da MAPC de alto risco parece estar associado à melhora dos resultados perinatais.

Pleuropulmonary blastomas are rare, potentially aggressive embryonal cancers of the lung parenchyma and pleural surfaces that account for 0.25%-0.5% of primary pulmonary malignancies in children. Pleuropulmonary blastomas are classified as cystic (type I), mixed cystic and solid (type II), and solid (type III). Pleuropulmonary blastoma occurs in the same age group (0-6 years) as other more common solid tumors such as neuroblastoma and Wilms tumor. Differential diagnosis includes metastasis from Wilms tumor and macrocystic congenital pulmonary airway malformation (CPAM). A key pathologic and genetic discriminator is the DICER1 germline mutation found in patients with pleuropulmonary blastoma. Imaging, histopathologic, and clinical data are important to use in conjunction in order to determine the diagnosis and risk stratification of pleuropulmonary blastomas. Survival varies from poor to good, depending on type. However, the spectrum of pleuropulmonary blastoma is insufficiently understood due to the variable presentation of this rare disease. We present a current review of the literature regarding pleuropulmonary blastomas in this article.

Little is known about differentially expressed genes (DEGs) and alternative splicing (AS) landscapes in congenital lung malformations (CLMs). We applied reference-based assembly of sequencing reads from RNA sequencing (RNA-seq) libraries to identify DEGs and AS landscapes in the lesions and normal lung tissue from the most common types of CLMs, including congenital pulmonary airway malformation-Ⅰ (CPAM-Ⅰ), CPAM-Ⅱ, intralobar sequestration (ILS), and ILS with CPAM (ILS-CPAM). We analyzed the expression profiles and related biological functions of AS events (ASEs). We further constructed a co-expression regulatory network between RNA binding protein (RBP) genes and corresponding ASEs to explore the related pathways in the regulated network. Ten DEGs were identified in the four types of CLMs, including eight upregulated genes and two downregulated genes. Additionally, 16 differential ASEs were detected, including the genes MACF1, RFX2, and FBXL4. Gene ontology (GO) enrichment was mainly observed in embryonic visual malformation and apoptotic process, and the KEGG pathway mainly enriched in the PI3K/AKT signaling pathway. We also detected 13 differentially expressed RBPs among 1979 DEGs in CPAM-I, in which ASEs in the MACF1 gene and RBP genes TLR8 and PTRH1 were closely associated. Moreover, we confirmed that the expression levels of PTRH1, NSUN7, and DZIP1L abundantly increased and the expression levels of TLR8, MEF2A, and NIPBL decreased in the CPAM-I lung tissue compared with the controls. It is suggested that ASEs in different types of CLMs is prominently different from normal controls, and ASEs differences occurring in CPAM-I malformation tissue are dramatically different from other types, which demonstrates the complex pathogenesis of CLMs and provides foundations for future studies to elucidate the mechanisms of developing CLMs.

Indications for pulmonary lobectomy in infants and children include cystic pulmonary adenomatoid malformation, congenital lobar emphysema, chronic infection, and malignancy. These procedures can now all be done thoracoscopically avoiding the short- and long-term morbidity of an open thoracotomy. In this article we describe the technique of thoracoscopic lobectomy as well as the preoperative and postoperative care.

Background: It has been postulated that video-assisted thoracoscopic surgery (VATS) is superior than conventional thoracotomy for resection of congenital pulmonary airway malformation (CPAM) in terms of shorter hospital length of stay, reduced post-operative complication and better long-term pulmonary outcome. However, there is limited available data concerning the effect of VATS and conventional thoracotomy on musculoskeletal aspects in patients with CPAM. This study aims to compare the long-term effects of both surgical techniques on musculoskeletal outcomes in this group of patients. Methods: Thirty-five patients with mean age of 11.38 years old who underwent VATS or conventional thoracotomy for CPAM resection were recruited in this study. The mean follow-up time was 10.42 years (5.48 to 17.71 years). Musculoskeletal examination included screening of musculoskeletal deformities (elevation of shoulder, asymmetry of nipple level, breast/ pectoral muscle maldevelopment, winging of scapula, scoliosis), measurement of bilateral chest wall in relation to anatomical parameter, and testing of shoulder range of motion and power. Results: The prevalence of winged scapula was significantly lower in patients who underwent VATS than thoracotomy (13% vs 58%, p = 0.008). There is also a smaller reduction in operated-side chest wall vertical distance in VATS patients (0.982 vs 0.956, p = 0.058). There were no significant difference in prevalence of other musculoskeletal deformities, other chest wall measurements, shoulder range of motion and power between two groups. Conclusion: Thoracoscopy decreases the incidence of scapular winging but has no effect on effect on other musculoskeletal deformities.

To identify, in fetuses with a congenital lung malformation (CLM), prenatal predictors of the need for postnatal respiratory support and the need for surgery by calculating the CLM volume ratio (CVR), and to evaluate the concordance between the prenatal appearance and the postnatal type of CLM.This was an analysis of prenatal, perinatal and postnatal data from fetuses diagnosed with a CLM at the Erasmus University Medical Center - Sophia Children's Hospital in Rotterdam, The Netherlands, between January 2007 and December 2016. For all included fetuses, CVR was measured retrospectively on stored ultrasound images obtained at 18 + 1 to 24 + 6 weeks (US1), 25 + 0 to 29 + 6 weeks (US2) and/or 30 + 0 to 35 + 6 weeks' gestation (US3). Postnatal diagnosis of CLM was based on computed tomography or histology. Primary outcomes were the need for respiratory support within 24 h and surgery within 2 years after birth.Of the 80 fetuses with a CLM included in this study, 14 (18%) required respiratory support on the first postnatal day, and 17 (21%) required surgery within 2 years. Only the CVR at US2 was predictive of the need for respiratory support, with a cut-off value of 0.39. Four of 16 (25%) fetuses which showed full regression of the CLM prenatally required respiratory support within 24 h after birth. The CVR at US1, US2 and US3 was predictive of surgery within 2 years. Overall, the prenatal appearance of the CLM showed low concordance with the postnatal type. Prenatally suspected microcystic congenital pulmonary airway malformation (CPAM) was shown on computed tomography after birth to be congenital lobar overinflation in 15/35 (43%) cases. Respiratory support within 24 h after birth and surgical resection within 28 days after birth were needed in all cases of macrocystic CPAM.CVR can predict the need for respiratory support within 24 h after birth and for surgery within 2 years. Regression of a CLM prenatally does not rule out respiratory problems after birth. © 2020 The Authors. Ultrasound in ObstetricsGynecology published by John WileySons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology. - Legal Statement: This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.

Congenital lung malformations represent a spectrum of lesions, each with a distinct cause and tailored clinical approach. This article will focus on the following malformations: congenital pulmonary airway malformations, formally known as congenital cystic adenomatoid malformations, bronchopulmonary sequestration, congenital lobar emphysema, and bronchogenic cyst. Each of these malformations will be defined and examined from an embryologic, pathophysiologic, and clinical management perspective unique to that specific lesion. A review of current recommendations in both medical and surgical management of these lesions will be discussed as well as widely accepted treatment algorithms.

Pectus excavatum, carinatum, and arcuatum are 3 developmental chest wall deformities that may evolve during childhood and cause cardiac and/or pulmonary compression. Evaluation may include nonsurgical subspecialty consultations and imaging studies. Treatment may be nonoperative or surgical. Long-term follow-up studies have identified rare complications of traditional open repair. Routine in utero ultrasonography has led to increasing identification of congenital lung anomalies, including congenital cystic adenomatoid malformations, pulmonary sequestrations, and bronchogenic cysts. Short-term follow-up studies have suggested that some lesions may regress spontaneously. Minimally invasive techniques, including thoracoscopy, may allow for early surgical resection with less morbidity than traditional open surgery.

OBJECTIVES The purpose of this study was to evaluate the diagnosis of, clinical signs of and strategy for congenital cystic adenomatoid malformations (CCAM). METHODS In this retrospective study, patients who had thoracic surgery for CCAM lesions at the University Hospitals of Leuven from July 1993 to July 2016 were identified. Data on diagnosis, prenatal ultrasound findings, clinical signs, lesion site, CCAM type, associated anomalies, imaging, surgical approach and postoperative morbidity were reviewed. The Fisher exact and Mann–Whitney tests were used as appropriate. RESULTS A total of 55 patients were identified with CCAM. In 65% (n = 36/55), CCAM was detected on prenatal ultrasound scans. Prenatal symptoms due to hydrops or mass effect were present in 22% (n = 8/36), 6 of whom eventually needed prenatal intervention (thoracoamniotic shunting or intrauterine puncture). Elective surgery was performed in 40% of patients (n = 22/55); others developed clinical signs that indicated the need for semi-urgent surgery, with clinical signs of pulmonary infection and respiratory distress being the most common. Most patients had a single lobectomy via a minithoracotomy. Postoperative complications and length of stay were significantly higher in patients with CCAM with preoperative clinical signs. CONCLUSIONS Surgery in asymptomatic patients with CCAM can be performed safely with few postoperative complications and can be planned at a young age in patients with a high risk of developing clinical signs later in life.

OBJECTIVE To investigate the relationship between mild congenital pulmonary airway malformation (CPAM) and its long-term prognosis in childhood and to explore whether surgery is necessary. METHODS We conducted a retrospective cohort of fetuses with mild CPAM diagnosed prenatally with available long-term outcomes in childhood from 2004 to 2016. The patients were divided into two groups according to the fetal CPAM-to-volume ratio (CVR) of less than 1.0 and 1.0-1.6. The primary outcome was a postnatal composite outcome including CPAM-associated respiratory symptoms and surgical resection of the lesion. The secondary outcomes included neonatal asphyxia, perinatal morbidity and mortality. RESULTS Forty-two fetuses were identified as having CVR

The cystic volume ratio (CVR) has been used to predict the prognosis of fetal lung disease, but most of them are reported on ultrasound. The purpose of this study was to investigate the prognostic value of prenatal magnetic resonance imaging (MRI) measurement of CVR in fetal congenital cystic adenomatoid malformation (CCAM).To collect follow-up data on postnatally confirmed CCAM fetuses. According to the size of CVR, they were divided into a CVR ≥1.26 group and a CVR1.26 group. The lesions were divided into macrocystic (diameter ≥5 mm) and microcystic (diameter5 mm) types according to the size of cysts in the lesions. The collected contents also included the location of the lesions, prenatal symptoms, postpartum clinical prognosis, and pregnancy outcomes.In all, 51 cases were collected. Of these, 11 were placed into the CVR ≥1.26 group, and 40 were placed into the CVR1.26 group; meanwhile 34 were classified as macrocystic lesions and 17 as microcystic lesions; 7 cases involved a terminated pregnancy. In the CVR ≥1.26 group, 81.82% (9/11) and 36.36% (4/11) had displacement of large vessels/heart and increased amniotic fluid, respectively; meanwhile, in the CVR1.26 group, these phenomena occurred in 35.00% (14/40) and 2.50% (1/40) of cases (P=0.006, 0.010). Additionally, 83.33% (5/6) of live infants in the CVR ≥1.26 group had dyspnea, a significantly higher proportion than the 21.05% (8/38) in the CVR1.26 group (P=0.011). Moreover, 45.45% (5/11) of the cases in the CVR ≥1.26 group were terminated pregnancies, a significantly higher proportion than the 5.26% (2/38) in the CVR1.26 group (P=0.001). Finally, the CVR of macrocystic lesions was 0.55 (0.34-1.31), which was significantly greater than the 0.34 (0.17-0.57) of microcystic lesions (P=0.022). Logistical regression analysis identified that CVR is an independent factor associated with the postpartum prognosis of CCAM.Prenatal symptoms and postpartum prognosis were worse than CVR1.26 when fetal CVR ≥1.26 measured by prenatal MRI; and the measurement of CVR of CCAM through prenatal MRI has considerable practical value in prenatal consultation, evaluation, and postpartum treatment.

We report the clinical case of a 38 weeks gestational age neonate, antenatally diagnosed with a left large macrocystic pulmonary malformation conditioning dextrocardia. At birth, he presented with respiratory distress requiring non-invasive ventilation with high-flow nasal cannula (HFNC). A left inferior lobectomy was performed via thoracotomy on day 21 of life. Histological features of the lesion were compatible with congenital pulmonary airway malformation (CPAM) type I with muci- nous cell clusters. No surgical complications were reported and the neonate was discharged six days after surgery. Follow-up two months after surgery was unremarkable., Portuguese Journal of Cardiac Thoracic and Vascular Surgery, Vol. 29 No. 2 (2022): Apr-Jun

Objective Meta-analysis was used to evaluate the diagnostic value of a CVR cut-off value of 1.6 for fetal hydrops due to congenital lung malformation (CLM). Methods A systematic search of PubMed, Embase, Web of Science, CNKI, VIP, and Wanfang published before 7/30/2021 for the value of a congenital pulmonary airway malformation volume ratio (CVR) cut-off value of 1.6 for the diagnosis of fetal hydrops. According to the inclusion and exclusion criteria, the literature that met the requirements were obtained. A total of 75 articles were retrieved, and 12 articles were included for further analysis. The quality of these studies was evaluated according to the Quality Assessment for Studies of Diagnostic Accuracy tool (QUADAS-2) criteria. The Q test and heterogeneity I2 were used to evaluate the heterogeneity due to non-threshold effects, and Stata 15.0 was used for statistical analysis to evaluate the diagnostic value of the CVR cutoff value of 1.6 for fetal hydrops due to CLM. Results A total of 12 studies were included. The QUADAS-2 indicated that the risk of bias was relatively low, and the clinical applicability was relatively high. Statistical analysis was performed on included studies using a random effect model. Meta-analysis showed that the pooled sensitivity, specificity, diagnostic ratio and summary receiver operating characteristic (SROC) for the diagnosis of fetal hydrops by CVR were 0.86 (95% CI, 0.72–0.93; I2 = 59.84), 0.90 (95% CI, 0.88–0.93; I2 = 31.94), 58 (95% CI, 22–149; I2 = 100%), 0.93 (95% CI, 0.91–0.95). Conclusions The sensitivity and specificity of CVR cut-off value 1.6 for the diagnosis of CLM-induced fetal hydrops were high, no publication bias was observed, and the CVR cut-off value 1.6 is meaningful for the early diagnosis prediction of CLM-induced fetal hydrops.

Large solitary cystic lesions are a rare finding, and their differential diagnosis includes cystic airspaces associated with lung cancer, congenital pulmonary airway malformations and pneumatoceles. Here, we report 3 consecutive patients who presented with a large solitary pulmonary cyst on chest computed tomography. All underwent surgical resection, and the histopathological findings were different in all 3 cases. In one patient, a very rare finding of squamous cell carcinoma arising from the cystic lesion in the left lower lobe was confirmed. Therefore, in carefully selected cases, pulmonary cysts should be resected based on the potential risk for recurrent infection and the development of malignancy. ispartof: Interact Cardiovasc Thorac Surg vol:34 issue:6 pages:1157-1159 ispartof: location:England status: published

BACKGROUND: Congenital pulmonary airway malformation (CPAM) is the most common prenatally-diagnosed lung malformation. This lesion, classified as macrocystic or microcystic, can lead to significant fetal compromise. Management options include observation, maternal antenatal steroid administration, and fetal surgical intervention. Current evidence suggests that microcystic (but not macrocystic) lesions and those with a cyst volume ratio (CVR) >1.6 are responsive to steroid therapy. The objective of this study was to identify patterns of prenatal steroid administration for the management of CPAMs and to identify characteristics of CPAMs prompting steroid administration. METHODS: An 18-question survey was distributed to obstetricians from the Pregnancy-Related Care Research Network (PRCRN) and the North American Fetal Therapy Network (NAFTNet), from January to April 2019, to capture antenatal steroid prescribing patterns. RESULTS: Response rates were 28.3% (138/487) for PRCRN and 63.3% (19/30) for NAFTNet. Among PRCRN members, 16.8% administered prenatal steroids, with most (77.2%) doing so for both microcystic and macrocystic CPAMs; corresponding percentages for NAFTNet members were 90.9% and 52.6%. Two thirds (65.6%) of obstetricians who administer steroids do so for a CVR > 1.6, without evidence of mediastinal shift or hydrops fetalis. CONCLUSIONS: There is a lack of consensus among obstetricians as to the CPAM characteristics that should prompt administration of prenatal steroids. Many surveyed obstetricians do not use cyst type or CVR to guide decision-making regarding steroid therapy.

Objectives To develop a clinical guideline for structured assessment and uniform reporting of congenital lung abnormalities (CLA) on Computed Tomography (CT)-scans. Materials and Methods A systematic literature search was conducted for articles describing CT-scan abnormalities of congenital pulmonary airway malformation (CPAM), bronchopulmonary sequestration (BPS), congenital lobar emphysema (CLE) and bronchogenic cyst (BC). A structured report using objective features of CLA was developed after consensus between a pediatric pulmonologist, radiologist and surgeon. Results Of 1581 articles identified, 158 remained after title-abstract screening by two independent reviewers. After assessing full-texts, we included 28 retrospective cohort-studies. Air-containing cysts and soft tissue masses are described in both CPAM and BPS while anomalous arterial blood supply is only found in BPS. Perilesional low-attenuation areas, atelectasis and mediastinal shift may be found in all aforementioned abnormalities and can also be seen in CLE as a cause of a hyperinflated lobe. We have developed a structured report, subdivided into five sections: Location & Extent, Airway, Lesion, Vascularization and Surrounding tissue. Conclusions CT-imaging findings in CLA are broad and nomenclature is variable. Overlap is seen between and within abnormalities, possibly due to definitions often being based on pathological findings, which is an unsuitable approach for CT imaging. We propose a structured assessment of CLA using objective radiological features and uniform nomenclature to improve reporting.

Background: This study aimed to report a European multi-institutional experience about thoracoscopic management of children with congenital lung malformations. Methods: The records of 102 patients (49 girls and 53 boys) with median age at surgery of 1 year (range 6 months-1.5 years), who underwent thoracoscopic lobectomy in five European Pediatric Surgery units, were retrospectively collected. Indications for surgery included congenital pulmonary airway malformation (CPAM) (n = 47), intra- and extralobar pulmonary sequestration (n = 34), hybrid lesion (CPAM/intralobar sequestration) (n = 2), severe bronchiectasis (n = 9), congenital lobar emphysema (n = 8), and others (n = 2). The condition was asymptomatic in 77/102 (75.5%), whereas symptoms such as recurrent pneumonia and/or respiratory distress were present in 25/102 (24.5%). Results: Surgical procedures included 18 upper, 20 middle, and 64 lower lobe resections. No conversions to open were reported. A 3 mm sealing device and 5 mm stapler were adopted in the last 48/102 patients (47%). The median operative time was 92.2 minutes (range 74-141). The median operative time significantly decreased in patients in whom the vessel division and bronchial sealing were performed using sealing devices (75.5 minutes) compared with suture ligations (118.9 minutes) (P = .001). The median hospital stay was 3.7 days (range 2-6.2). Three/102 patients (2.9%) developed postoperative complications, including air leakage requiring pleural drainage (n = 1) (Clavien IIIb) and respiratory infection (n = 2) (Clavien II). A reoperation was required in one patient with residual pleuropulmonary blastoma (0.9%). All symptomatic patients reported resolution of symptoms postoperatively. Conclusions: Thoracoscopic lobectomy is a safe and effective procedure with excellent cosmetic outcome, in expert hands. Based upon our experience, we strongly recommend surgery in patients with congenital lung malformations by the first year of life, to reduce the risk of infection and make the procedure technically easier, despite the small patients' size. Surgeon's experience and use of miniaturized instruments and sealing devices remain key factors for successful outcome.

Introduction Infection is undoubtedly the most important factor in influencing the timing and surgical strategy of congenital pulmonary airway malformation (CPAM) surgery. However, there have been no studies on the optimal timing of surgery for patients based on the probability of infection. The aim of this study was performed to explore the optimal timing of surgery of CPAM in children from the risk of infection. Materials and Methods The correlation of age distribution and pulmonary infection of 237 children diagnosed by pathology from January 2012 to January 2020 in Guangzhou Women and Children's Medical Center were analyzed retrospectively. We defined the cases with preoperative computed tomographic findings of infection, pathological findings of large number of neutrophils, tissue cells, and abscess formation as the infection group. Results The rate of infection in patients less than 2 years old was significantly lower than in patients over 2 years old (11.4% vs. 45.7%, p Conclusion In consideration of the high risk of infection, lower minimally invasive surgery rate, an increased rate of pulmonary lobectomy, and more blood loss in patients over 2 years old, our study also supports early surgical treatment. Therefore, we suggest that for asymptomatic patients with CPAM I and CPAM II, surgical treatment should be performed when they are less than 2 years old, providing more options for surgical strategies and monitoring of CPAM patients.

Aims: Mucinous adenocarcinoma arising in congenital pulmonary airway malformation (CPAM) is a rare complication, with little being known about its natural course. The aims of this article are to describe a series of mucinous adenocarcinomas arising from CPAMs, and present their clinicopathological features, genetics, and clinical outcome. Methods and results: Thirty-seven cases were collected within a 34-year period, and the subtype of adenocarcinoma and CPAM, tumour location, stage, growth patterns, molecular data and follow-up were recorded. The cohort comprised CPAM type 1 (n = 33) and CPAM type 2 (n = 4). Morphologically, 34 cases were mucinous adenocarcinomas (21 in situ; 13 invasive), and three were mixed mucinous and non-mucinous adenocarcinoma. Seventeen cases showed purely extracystic (intra-alveolar) adenocarcinoma, 15 were mixed intracystic and extracystic, and five showed purely intracystic proliferation. Genetically, nine of 10 cases tested positive for KRAS mutations, four with exon 2 G12V mutation and five with exon 2 G12D mutation. Residual disease on completion lobectomy was observed in two cases, and three cases recurred 7, 15 and 32 years after the original diagnosis. Two patients died of metastatic invasive mucinous adenocarcinoma. Conclusions: Most adenocarcinoma that arise in type 1 CPAMs, are purely mucinous, and are early-stage disease. Intracystic proliferation is associated with lepidic growth, an absence of invasion, and indolent behaviour, whereas extracystic proliferation may be associated with more aggressive behaviour and advanced stage. Most cases are cured by lobectomy, and recurrence/residual disease seems to be associated with limited surgery. Long-term follow-up is needed, as recurrence can occur decades later.

Congenital pulmonary airway malformation diagnosed in adulthood is very rare. A 54-year-old woman was admitted to our hospital with complaints of abnormal chest shadow. Computed tomography( CT) demonstrated multiple cysts, mass lesions, and consolidation in left lower lobe. Bronchofiber scopy could not establish the diagnose. Left lower lobectomy was performed for diagnosis and treatment. Pathologically the lesion was diagnosed as congenital pulmonary airway malformation.

To investigate the differential expression of genes in whole transcripts of congenital pulmonary airway malformation (CPAM) using second-generation sequencing (also known as next-generation sequencing, NGS) technology. Children with CPAM were strictly screened after setting the criteria, and grouped by taking CPAM parietal tissue and CPAM lesion tissue respectively, and RNA-Seq libraries were established separately using second-generation sequencing technology, followed by differential expression analysis and GO (gene ontology) functional enrichment analysis, KEGG (Kyoto encyclopedia of genes and genomes, a database) pathway analysis and GSEA (Gene Set Enrichment Analysis) analysis. Five cases were screened from 36 children with CPAM, and high-throughput sequencing was performed to obtain 10 whole transcripts of samples with acceptable sequence quality and balanced gene coverage. One aberrantly expressed sample (3b) was found by analysis of principal components, which was excluded and then subjected to differential expression analysis, and 860 up-regulated genes and 203 down-regulated genes. GO functional enrichment analysis of differentially expressed genes demonstrates the functional class and cellular localization of target genes. The whole transcript of CPAM shows obvious gene up and down-regulation, differentially expressed genes are located in specific cells and belong to different functional categories, and NGS can provide an effective means to study the transcriptional regulation of CPAM from the overall transcriptional level.

The purpose of the present study is to evaluate our institutional management of high-risk congenital lung malformations (CLM) with particular consideration of the use of multiple maternal steroid courses and maternal steroids in CLMs with pathologies other than congenital pulmonary airway malformation (CPAM).A single-center retrospective review was performed for all fetuses evaluated for CLM who received maternal steroids and/or had a CLM volume ratio (CVR) ≥ 1.6 (2015-2020). Fetuses were categorized as receiving no steroids, single steroid, or multiple steroid courses. Outcomes evaluated included CVR growth rate, resolution of early hydrops, and resolution of hydrops. Results are reported with a descriptive analysis.Nineteen patients were identified who had CVR ≥ 1.6 (single steroid course 9/19, multiple steroid courses 6/19, and no steroids 4/19). A majority (n = 13, 68%) of all lesions had a reduction or no change in CVR between initial and final measurements (single steroid course 7/9, 78%; multiple steroid courses 4/6, 67%). When evaluating by pathology, ≥ 50% of each classification had reduction or no growth of CVR (CPAM 7/11, bronchial atresia 2/4, sequestration 3/3, congenital lobar emphysema 1/1). Seventy five percent (3/4) of lesions with early hydrops had resolution following steroid treatment (single steroid course 1, multiple steroid courses 2). Of the four lesions that had hydrops, only one had resolution after receiving multiple steroid courses.Our institutional experience reports the majority of CLM (including pathologies other than CPAM) who received steroids had reduction or no change in CVR. Given the low risk-benefit ratio of maternal steroids, physicians could consider use of multiple steroid courses for CLM refractory to a single course.

Congenital-pulmonary-airway-malformation (CPAM) and bronchopulmonary-sequestration (BPS) are rare conditions. The objective of this study was to describe the sonographic characteristics and prenatal course of fetal lung mass.A retrospective study on 20 pregnancies with CPAM and BPS diagnosed during 2018-2018 was performed. Data evaluated included gestational age (GA) at diagnosis, size of lesion, CPAM-volume-ratio (CVR), associated sonographic findings and pregnancy outcome.Fourteen cases of CPAM and six cases of BPS were evaluated. The average GA at diagnosis was 22 weeks'-gestation (range 17-26). 66% were macrocystic-multicystic. Five cases of BPS (71.4%) had other structural anomalies. None of the fetuses with CPAM had additional anomalies. Four pregnancies (20%) underwent termination due to severe hydrops fetalis. Two cases of CPAM (15%) had spontaneous resolution by 30 week's-gestation; three cases (20%) continued to grow during pregnancy and all the rest reached their largest size at 25-28 week's-gestation. Most cases delivered at term (average 37.6 range 32.2-41.4). Two children had lobectomy at 11 and 12 months of life.Careful follow-up during pregnancy may result in term delivery of adequate-for-gestational-age newborns, with no need for admission to the NICU, with only 10% need for lobectomy during the first year of life.

Abstract Background: Congenital pulmonary airway malformation is a rare congenital lung lesion. Infants with large Congenital pulmonary airway malformation can present with a series of serious symptoms. Surgery is still the main treatment. Thoracoscopic lobectomy for neonates is rarely reported. Case presentation The authors report a case of a congenital pulmonary airway malformation located in the left lower lung of a 4-day-old female infant. Prenatally, the cystic adenomatoid malformation volume ratio was 2.99 according to ultrasound scan. After birth, thoracoscopic lobectomy was performed to alleviate respiratory failure and mediastinal hernia. The patient’s clinical symptoms and the X-ray re-examination showed good postoperative recovery. Conclusions The purpose of this study is to indicate that a safe and effective minimally invasive surgery for the giant congenital pulmonary airway malformation is feasible, even for infants only 4 days old.

OBJECTIVES To compare the prognostic factors of fetuses with microcystic and macrocystic congenital pulmonary airway malformations (CPAMs). METHODS We retrospectively evaluated fetuses with CPAMs at Asan Medical Center. The CPAM size, mass effect, and maximum cyst size in macrocystic CPAMs were evaluated prenatally. The adverse postnatal outcomes, including respiratory symptoms, mechanical ventilation, and surgery, were evaluated. RESULTS In 118 cases, 2 fetal deaths and 1 neonatal death occurred. All cases of fetal hydrops and complete regression after birth were in the macrocystic and microcystic CPAM groups, respectively. Twenty-four neonates (20.7%) had respiratory symptoms, and 18 (15.5%) required mechanical ventilation. Sixty-three neonates (54.3%) underwent surgery, of whom 21 (33.3%) required surgery in the neonatal period. The maximum congenital pulmonary airway malformation volume ratio was significantly associated with all postnatal outcomes (P < .05), and the optimal cutoff values were lower for respiratory symptoms, mechanical ventilation, and neonatal surgery in the macrocystic CPAMs. The maximum cyst size was also associated with all postnatal outcomes in macrocystic CPAMs (P < .05). CONCLUSIONS Different cutoff values for the maximum congenital pulmonary airway malformation volume ratio should be applied according to the CPAM type for the prediction of postnatal outcomes. The maximum cyst size can also be a useful prognostic factor in macrocystic CPAMs.

Congenital pulmonary airway malformation (CPAM) occurs most commonly in infants. It is divided into 5 types. The most common types 1 and 2 are cystic, type 0 presents as bronchial buds without alveolar tissue, most likely corresponding to alveolar dysgenesis, while type 3 is composed of branching bronchioles and appears as a solid lesion. A defect in the epithelial-mesenchymal crosstalk might be the underlying mechanism for all. Type 4 is a peripheral cystic lesion with a thin cyst wall covered by pneumocytes. CPAM 4 has been mixed up with pleuropulmonary blastoma (PPB) type I and some authors question its existence. We investigated five cases of CPAM type 4 for the presence or absence of rhabdomyoblasts, and for markers associated with CPAM development. In addition, all cases were evaluated for mutations within the Dicer gene and for mutations of the RAS family of oncogenes. All five cases showed smooth muscle actin and desmin-positive cells; however, only one case showed a few cells positive for MyoD. The same case showed a mutation of Dicer 1. All cases were negative for mutations of the RAS family of genes. Fibroblast growth factor 10 was similarly expressed in all cases, and thus cannot be used to differentiate CPAM4 from PPB-I. Low expression of the proliferation marker Ki67 was seen in our CPAM 4 cases and the probable PPB-I case. YingYang-1 protein seems to play an active role in the development of PPB-I. CPAM 4 can be separated from PPB-I based on the presence of rhabdomyoblasts and mutations in Dicer 1 gene. These cells might not be numerous; therefore, all available tissue has to be evaluated. As CPAM 4 morphologically looks very similar to PPB-I, it might be speculated, that there exists a potential for progression from CPAM 4 to PPB-I, by acquiring somatic mutations in Dicer 1.

The potential for malignant degeneration is the most common reason for some practitioners to resect asymptomatic congenital pulmonary airway malformations (CPAMs). We aimed to investigate the potential of various immunohistochemical (IHC) and genomic biomarkers to predict the presence of mucinous proliferations (MPs) in CPAM. Archival CPAM tissue samples were re-assessed and underwent IHC analysis using a panel of differentiating markers (TTF1/CDX2/CC10/MUC2/MUC5AC/p16/p53/DICER1). In each sample, intensity of IHC staining was assessed separately in normal lung tissue, CPAM, and MP tissue, using a semiquantitative approach. Likewise, next-generation targeted sequencing of known adult lung driver mutations, including KRAS/BRAF/EGFR/ERBB2, was performed in all samples with MP and in control samples of CPAM tissue without MP. We analyzed samples of 25 CPAM type 1 and 25 CPAM type 2 and found MPs in 11 samples. They were all characterized by strong MUC5AC expression, and all carried a KRAS mutation in the MP and adjacent nonmucinous CPAM tissue, whereas the surrounding normal lung tissue was negative. By contrast, in less than half (5 out of 12) control samples lacking MP, the CPAM tissue also carried a KRAS mutation. KRAS mutations in nonmucinous CPAM tissue may identify lesions with a potential for malignant degeneration and may guide histopathological assessment and patient follow-up.

Background The increased and earlier use of prenatal ultrasound has facilitated the detection of congenital thoracic malformations (CTMs). Our Pediatric Pulmonology Institute follows an increasing number of patients with CTMs. Thus, we aimed to evaluate and describe prenatal sonographic findings of CTM, and to estimate changes in detection rates of CTMs over a period of 16 years. Methods A retrospective, cross-section analysis of prenatal ultrasound (US) screening tests carried out in a large community-based clinic, comparing two periods: 2001-2007 and 2007-2017. Results A total of 34 716 prenatal US were performed at a median gestational age of 15.4 weeks (range, 11.6-23.9) and 15.7 weeks (range, 12-33.6) in 2001-2007 and 2007-2017, respectively. In 2001-2007, 12 016 prenatal US tests detected 19 CTMs, compared to 30 CTMs in 22 700 tests in 2007-2017. Detection rates did not change (1.58/1,000 in 2001-2007 versus 1.32/1,000 in 2007-2017, P = 0.64). The most common abnormality was congenital pleural effusion (CPE) (17 cases, 34.7%), followed by congenital pulmonary airway malformation) and congenital diaphragmatic hernia; 13 cases each, 26.5%. Twenty CTMs, mainly congenital diaphragmatic hernia and CPE, were associated with other fetal lesions. Conclusions Congenital diaphragmatic hernia and CPE tend to appear with multiple lesions and warrant further attention. The incidence rates stayed stable when comparing the last decade to previous years. Thus, the increased referral of CTM can be attributed to an increase in the number of prenatal screening studies performed, rather than a true higher incidence.

Introduction: A congenital lung abnormality (CLA) is often found in conjunction with other abnormalities but screening guidelines for newborns with CLA have not yet been reported. We aimed to assess the incidence of associated anomalies in CLA patients born or followed up at our centre and the need for additional screening of newborns with a CLA. Methods: From a retrospective chart review of all patients born with a CLA between January 1999 and January 2019, we identified patients diagnosed with a congenital pulmonary airway malformation, bronchopulmonary sequestration, congenital lobar overinflation, bronchogenic cyst, or lung agenesis. Associated anomalies were noted and categorized according to the affected organ system. Results: Twenty-eight (14%) of 196 CLA patients had a major associated anomaly. This was most frequent in conjunction with a lung agenesis (100%) or bronchogenic cyst (29%). Congenital heart defects (32%) and gastrointestinal defects (18%) were the most frequently associated anomalies. Examination of newborns with a CLA should focus on the cardiovascular and gastrointestinal tract, and a chest and abdominal radiograph may be useful to assess signs of major associated anomalies, regardless of the clinical course.

Background: Congenital pulmonary airway malformations (CPAM), bronchopulmonary sequestrations (BPS), and CPAM-BPS hybrid lesions are most commonly solitary; however, >1 lung congenital lung lesion may occur. Objectives: To assess the frequency of multiple congenital thoracic anomalies at a high-volume referral center; determine prenatal ultrasound (US) and magnetic resonance imaging (MRI) features of these multifocal congenital lung lesions that may allow prenatal detection; and determine the most common distribution or site of origin. Methods: Database searches were performed from August 2008 to May 2019 for prenatally evaluated cases that had a final postnatal surgical diagnosis of >1 congenital lung lesion or a lung lesion associated with foregut duplication cyst (FDC). Lesion location, size, echotexture, and signal characteristics were assessed on prenatal imaging and correlated with postnatal computed tomographic angiography and surgical pathology. ­Results: Of 539 neonates that underwent surgery for a thoracic lesion, 35 (6.5%) had >1 thoracic abnormality. Multiple discrete lung lesions were present in 19 cases, and a lung lesion associated with an FDC was present in 16. Multifocal lung lesions were bilateral in 3 cases; unilateral, multilobar in 12; and, unilobar multisegmental in 4. Median total CPAM volume/head circumference ratio for multifocal lung lesions on US was 0.66 (range, 0.16–1.80). Prenatal recognition of multifocal lung lesions occurred in 7/19 cases (36.8%). Lesion combinations were CPAM-CPAM in 10 cases, CPAM-BPS in 5, CPAM-hybrid in 2, hybrid-hybrid in 1, and hybrid-BPS in 1. Of 5 unilateral, multifocal lung lesions, multifocality was prenatally established through identification of a band of normal intervening lung or intrinsic differences in lesion imaging features. Conclusions: Although less common, multiple thoracic abnormalities can be detected prenatally. Of multifocal lung lesions, the most common combination was CPAM-CPAM, with a unilateral, multilobar distribution. Prenatal recognition is important for pregnancy counseling and postnatal surgical management.

Congenital lung masses (CLM) the rare group of causes of acute respiratory insufficiency (RI) in newborns include congenital airway pulmonary malformation (CAPM), congenital overinflation, bronchopulmonary sequestration, and bronchial atresia. The presenting group consists of 13 newborns who were admitted to the Neonatal Department of Intensive Medicine (NDIM) during January 1st 2015-December 31st 2019 (8 males, 5 females, 2 premature/11 term newborns, spontaneous delivery: 2, caesarean section: 11) with positive prenatal diagnosis of CAPM in all cases. In 2 cases prenatal intervention was performed (drainage of the amniotic fluid, attempt of thoracentesis). Signs of acute RI immediately after delivery were seen in 5 newborns. Postnatal echocardiographic investigation confirmed the presence of increased pulmonary pressure in 8 patients, no patient had congenital heart abnormality. A thorax x-ray was positive also in asymptomatic patients. Computed tomography in patients brought detailed information about the position, size and character of CAPM. Six patients underwent surgery. In 15.4 % right lungs were affected by cystic malformation and in 23 % left lungs were affected. A final diagnosis of CAPM was confirmed in 5 patients using histopathologic examination. Multidisciplinary cooperation during prenatal as well as postnatal period is necessary.

Congenital chest lesions encompass several important entities. Without prompt intervention, many of these can culminate in serious complications. Timely and accurate radiologic interpretation of these entities is integral to patient management. Imaging can help characterize and prognosticate several of these entities, and may both suggest the need for and guide therapy. We overview the clinical presentation, associated complications, imaging characteristics, and prognostic indicators-both postnatal and antenatal-of the spectrum of emergently presenting congenital chest lesions. We also outline current and evolving management strategies, whether fetal, peripartum, or postnatal. The ultimate goal is to help radiologists formulate timely and effective diagnoses of these entities and boost the relevance of their input towards clinical decision-making.

Both congenital cystic adenomatoid malformation (CCAM) and lambdoid craniosynostosis are exceedingly rare, with estimated incidences of around 1 in 30,000 live births for each. Herein, we present a case of a patient with prenatally diagnosed CCAM requiring 4 doses of prenatal steroids and ultimately thoracotomy with right lower lobectomy. The operation was uncomplicated, and genome-wide analysis of SNPs revealed no pathologic abnormalities. Development was normal until head shape changes were noted at 5 months of age at which point evaluation by a craniofacial surgeon and 3D CT imaging revealed left-sided lambdoid craniosynostosis. The patient underwent uncomplicated posterior and middle vault expansion and remodeling of his lambdoid synostosis at 11 months of age. This paper explores the etiopathogenesis of CCAM and lambdoid craniosynostosis in an attempt to identify common pathways involved in the development of these exceedingly rare diseases which, to date, have not been described in the peer-reviewed literature.

Congenital pulmonary malformations comprise a heterogenous group of rare developmental diseases. The most common malformations are the tracheal bronchus, bronchial atresia, bronchogenic cyst, pulmonary sequestration, congenital lobar emphysema, and congenital pulmonary airway malformation. Due to their space-consuming effect, patients suffer early postnatal respiratory distress which generally requires immediate surgical resection. The management of asymptomatic lesions remains subject to debate, but early elective surgery is generally recommended to avoid respiratory and infectious complications at a later time point.We here provide a comprehensive review in which we present causes, clinical presentation and therapeutic options for the most prominent congenital malformations of the airways and lung parenchyma.Kongenitale pulmonale Malformationen stellen eine heterogene Gruppe seltener Erkrankungen dar, die auf Fehlentwicklungen während der embryonalen und fetalen Wachstumsphase basieren. Zu ihnen gehören der Trachealbronchus, die bronchiale Atresie, die bronchogene Zyste, die Lungensequestration, das kongenitale lobäre Emphysem sowie die sogenannte Congenital pulmonary Airway Malformation. Eines der Leitsymptome dieser Malformationen ist die durch ihren verdrängenden Effekt bedingte postnatale respiratorische Insuffizienz, welche eine rasche operative Versorgung erfordert. Auch bei asymptomatischen Malformationen wird aufgrund des erhöhten Infektrisikos die Resektion empfohlen.In der folgenden Übersicht wird auf die Ursachen, das klinische Bild und die therapeutischen Optionen dieser angeborenen Fehlbildungen der Lunge und des Bronchialsystems eingegangen.