Respiratory Diseases of the Newborn Infant

Congenital lung malformation (CLM) is an umbrella term encompassing a number of lesions including CPAM, bronchopulmonary sequestration and congenital lobar emphysema. Most CLMs are detected antenatally, and rarely fetal intervention is required. Around 10% of neonates with CLM have persistent respiratory distress presenting at or soon after birth due to lesion size and require surgical resection. The majority of lesions, however, are asymptomatic at birth, and opinion on their management remains polarised between those advocating elective resection, in the first year of life, of most or all lesions and those arguing for expectant management. Arguments for both sides are based on the same themes: risk of developing symptoms (including sepsis and pneumothorax), potential for malignancy, opportunity for compensatory lung growth and how to follow up conservatively managed patients. Symptomatic neonates are most commonly operated on by open thoracotomy, whereas thoracoscopy should now be considered the gold standard for resections beyond the neonatal period and/or asymptomatic lesions. Thoracoscopy has clear benefits: reduced length of hospital stay, reduced complications and improved long-term lung function.

Cite as: Peters RT, Singh M. Congenital parenchymal structural lung lesions: cysts, emphysema and sequestration. In: Sinha IP, Bhatt JM, Cleator A, et al., eds. Respiratory Diseases of the Newborn Infant (ERS Monograph). Sheffield, European Respiratory Society, 2021; pp. 164–178 [https://doi.org/10.1183/2312508X.10014220].

Pulmonary lymphangiectasia is a rare disorder that causes accumulation of lymph within the lungs and accounts for less than 1% of antenatal and perinatal deaths. Primary pulmonary lymphangiectasia results from abnormal lymphatic development and secondary pulmonary lymphangiectasia is due to obstruction of normal lymphatic flow. Lymphatic development is complex and controlled by multiple genes and can be impacted upon by numerous chromosomal disorders as well as environmental changes, such as infection. Presentations outside the neonatal period are also well recognised. Management requires extensive antenatal/post-natal investigations to find an underlying cause and supportive care is the mainstay of treatment; there is currently no known cure, although a variety of treatments are suggested anecdotally.

Cite as: Bush A, Mayell S, Pabary R. Pulmonary lymphangiectasia. In: Sinha IP, Bhatt JM, Cleator A, et al., eds. Respiratory Diseases of the Newborn Infant (ERS Monograph). Sheffield, European Respiratory Society, 2021; pp. 197–212 [https://doi.org/10.1183/2312508X.10014420].

The term neuromuscular diseases (NMDs) covers a range of disorders resulting in the dysfunction of peripheral nerves, the neuromuscular junction or muscle tissue. A diagnosis of NMD during the newborn period carries a significant risk of respiratory failure due to neonatal reduced airway patency and skeletal muscle inefficiency. Several NMDs can present during the newborn period such as muscular dystrophies, including congenital myotonic dystrophy, congenital myopathies, myasthenia gravis, congenital myasthenic syndromes and spinal muscular atrophies. Apart from recent advances in disease-modifying treatments for chromosome 5q-related spinal muscular atrophy, for most of the conditions only supportive management is available. The focus of treatment is therefore on secretion management, chest-clearance physiotherapy, nutritional support and assessment of swallowing, with resulting feeding management strategies to ensure adequate nutrition but also airway protection to prevent aspiration. If respiratory failure is identified, there may be a need to introduce ventilatory support via noninvasive or invasive long-term ventilation. For all of the potential interventions proposed, the impact on quality of life of the infant should be considered.

Cite as: Lund K, Grime C, Spinty S. Neuromuscular disease and respiratory failure. In: Sinha IP, Bhatt JM, Cleator A, et al., eds. Respiratory Diseases of the Newborn Infant (ERS Monograph). Sheffield, European Respiratory Society, 2021; pp. 231–244 [https://doi.org/10.1183/2312508X.10014620].

CF is a common inherited condition and may be diagnosed in the antenatal period following the persistence of abnormal echogenicity of the bowel or via prenatal carrier screening. More commonly, it is diagnosed post-natally via newborn bloodspot screening, following presentation with meconium ileus or later with clinical manifestations. Optimising nutrition in the early years has been shown to reduce later morbidity and mortality. For those infants presenting with meconium ileus, post-operative management can be challenging; therefore, care of these infants should be in a specialist CF centre familiar with such challenges. Although there have been significant advances in the use of CF transmembrane conductance regulator modulator therapies, these are currently not available within the neonatal period, but some are available from 6 months of age. There is evidence of early airway inflammation, and prompt initiation of airway clearance, prevention of infection as well as good nutrition are key in the early management of the newborn with CF. High-quality CF care in the neonatal period can only be provided by a multidisciplinary team.

Cite as: Sadlers V, Woodland C, Walsh A, et al. Managing cystic fibrosis. In: Sinha IP, Bhatt JM, Cleator A, et al., eds. Respiratory Diseases of the Newborn Infant (ERS Monograph). Sheffield, European Respiratory Society, 2021; pp. 259–272 [https://doi.org/10.1183/2312508X.10014820].

Lung biopsy in neonates is rare, and its interpretation a highly specialised area. The lung biopsy demonstrates patterns of abnormality that are the end result of a complex interplay of multiple factors (genetic, epigenetic and environmental) and frequently represents the end of a sequence of progressive deviations from normal. Lung growth abnormality with deficient alveolarisation is the commonest pattern. While a small number of specific diagnoses, such as alveolar capillary dysplasia, can sometimes be rendered, a unifying diagnosis is seldom possible on histology alone, and the histological pattern evident on biopsy must be integrated into the clinical, radiological and genetic picture.

Cite as: Ashworth MT, Hutchinson JC, Haini M. Histopathology of newborn lung disease. In: Sinha IP, Bhatt JM, Cleator A, et al., eds. Respiratory Diseases of the Newborn Infant (ERS Monograph). Sheffield, European Respiratory Society, 2021; pp. 287–300 [https://doi.org/10.1183/2312508X.10015020].