Associated Anomalies in Congenital Lung Abnormalities: A 20-Year Experience

Hermelijn, Sergei M.; Zwartjes, Rutger R; Tiddens, Harm A.W.M.; Otter, Suzan C M Cochius-den; Reiss, Irwin K M; Wijnen, René; Schnater, J. Marco

doi:10.1159/000509426

Cited by 12 publications

(5 citation statements)

References 22 publications

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“…The clinical presentation in neonates consists of recurrent wheeze or chronic cough and infections around the age of 7 months on average [ 1 , 14 ]. In some cases, the coexistence of extrapulmonary anomalies, such as congenital diaphragmatic hernia, often associated with PS, as well as cardiovascular anomalies, may suggest the presence of CLMs [ 1 , 16 , 17 ]. Postnatal complications of misdiagnosed or untreated CLMs include recurrent pneumonia (both bacterial and fungal), hemoptysis and/or hemothorax, pneumothorax, air embolism, potential tumor development, and even heart failure as a result of systemic collateral shunting [ 7 , 16 , 18 ].…”

Section: Resultsmentioning

confidence: 99%

Congenital Lung Malformations: A Pictorial Review of Imaging Findings and a Practical Guide for Diagnosis

Cancemi,

Distefano,

Vitaliti

et al. 2024

Children

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The term congenital lung malformation (CLM) is used to describe a wide range of pathological conditions with different imaging and clinical manifestations. These anomalies stem from abnormal embryological lung development, potentially occurring across various stages of prenatal life. Their natural history can be variable, presenting in a wide range of severity levels and encompassing asymptomatic individuals who remain so until adulthood, as well as those who experience respiratory distress in the neonatal period. Through the PubMed database, we performed an extensive review of the literature in the fields of congenital lung abnormalities, including their diagnostic approach and findings. From our RIS-PACS database, we have selected cases with a final diagnosis of congenital lung malformation. Different diagnostic approaches have been selected, including clinical cases studied using plain radiograph, CT scan, prenatal ultrasound, and MR images. The most encountered anomalies can be classified into three categories: bronchopulmonary anomalies (congenital pulmonary airway malformations (CPAMs), congenital lobar hyperinflation, bronchial atresia, and bronchogenic cysts), vascular anomalies (arteriovenous malformation), and combined lung and vascular anomalies (scimitar syndrome and bronchopulmonary sequestration). CLM causes significant morbidity and mortality; therefore, the recognition of these abnormalities is necessary for optimal prenatal counseling and early peri- and postnatal management. This pictorial review aims to report relevant imaging findings in order to offer some clues for differential diagnosis both for radiologists and pediatric consultants.

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Section: Resultsmentioning

confidence: 99%

Congenital Lung Malformations: A Pictorial Review of Imaging Findings and a Practical Guide for Diagnosis

Cancemi,

Distefano,

Vitaliti

et al. 2024

Children

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“…Previous studies reported that 6–28.6% of PS cases occurred in association with other malformations, including CPAMs, CDH, CHD, etc. [ 8 , 13 , 15 , 33 , 35 , 40 , 41 ]. In our sample, the top 3 frequently coexisting anomalies of PS counted according to system were congenital respiratory system malformations (40.28%), circulatory system malformations (33.80%), and musculoskeletal anomalies (10.65%).…”

Section: Discussionmentioning

confidence: 99%

Epidemiology and prevalence of pulmonary sequestration in Chinese population, 2010–2019

Gao

et al. 2023

BMC Pulm Med

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Background Pulmonary sequestration (PS) is the second common congenital lung malformation and has been known for over 150 years. However, there is a scarcity of epidemiological studies on it. This study aimed to characterize the epidemiology of pulmonary sequestration in Chinese population in the recent decade by using a nationwide database. Methods Using data from the Chinese Birth Defects Monitoring Network during 2010–2019, the prevalence rates for PS were calculated by birth year, maternal age, residence area, geographical region, and infant sex. Variations in prevalence and changes over time were further examined. Other variables of interest for analysis included the pregnancy outcomes of affected infants, the prenatal diagnosis, and the co-occurring anomalies of PS cases. Results During the study period, we identified an average prevalence rate of 0.31, 0.11, and 0.42 per 10,000 live and still births for the isolated, non-isolated, and overall PS, respectively. An upward trend was observed for each category of PS. The prevalence rates varied significantly by maternal age (< 20 years, 0.34/10,000; 20–24 years, 0.33/10,000; 25–29 years, 0.45/10,000; 30–34 years, 0.46/10,000; ≥ 35 years, 0.36/10,000), residence area (urban vs. rural, 0.51/10,000 vs. 0.30/10,000), geographical region (western, 0.33/10,000; eastern, 0.49/10,000; central, 0.43/10,000), and by infant sex (male vs. female, 0.45/10,000 vs. 0.38/10,000). Non-isolated PS cases were more likely born prematurely than isolated cases (15.29% vs. 7.83%). 40.28% and 33.80% of non-isolated cases were accompanied by additional respiratory, and circulatory system malformations, respectively. Conclusions The study presents for the first time the prevalence of pulmonary sequestration in Chinese population. The rising prevalence and relatively poor perinatal outcome of affected fetuses or newborns indicate the necessity to improve perinatal management of PS.

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“…Chromosomal abnormalities are associated with 1.6% of fetal pulmonary malformations, especially those with pulmonary hypoplasia and bronchial cyst ( 12 , 13 ). Therefore, invasive prenatal diagnosis such as amniocentesis is recommended for fetuses with BCs to exclude potential chromosomal abnormalities.…”

Section: Discussionmentioning

confidence: 99%

Case Report: Prenatal and Postnatal Management for Fetal Bronchogenic Cysts During the COVID-19 Pandemic

et al. 2021

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Background: A fetal bronchogenic cyst (BC) is a rare congenital anomaly with an incidence of 0.147–0.238‰. The coronavirus disease 2019 (COVID-19) pandemic, as a particular situation, hindered pregnant women from receiving periodic prenatal checkups.Case Description: Until 34+6 weeks of gestation, a fetal case of the intrathoracic cyst was found by ultrasound examination. Further, MRI examination confirmed the diagnosis of the congenital mediastinal cystic lesion, probably a BC. Genetic testing was not conducted due to the COVID-19 pandemic. At 38+5 weeks of gestation with maternal COVID-19 testing negative, a live girl was delivered by cesarean section. Five months later, the child underwent bronchocystectomy, and the postoperative pathological lesions confirmed a (right upper mediastinum) BC.Conclusion: Herein, we reported the prenatal and postnatal management for a rare case of the congenital BC by multidisciplinary approaches during the COVID-19 pandemic. Fetal MRI and screening for fetal chromosomal abnormalities are especially recommended. This case contributes to the awareness that the COVID-19 pandemic interferes with regular follow-up schedules during pregnancy and may interfere with timely performed additional tests; which leads to more accurate genetic counseling. A combination of multidisciplinary approaches, including radiology, infection control, genetic counseling, obstetrics, and pediatric surgery, is pivotal for managing fetal BC during the COVID-19 pandemic.

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Associated Anomalies in Congenital Lung Abnormalities: A 20-Year Experience

Cited by 12 publications

References 22 publications

Congenital Lung Malformations: A Pictorial Review of Imaging Findings and a Practical Guide for Diagnosis

Congenital Lung Malformations: A Pictorial Review of Imaging Findings and a Practical Guide for Diagnosis

Epidemiology and prevalence of pulmonary sequestration in Chinese population, 2010–2019

Case Report: Prenatal and Postnatal Management for Fetal Bronchogenic Cysts During the COVID-19 Pandemic

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