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Congenital diaphragmatic hernia in the neonate

INTRODUCTION

Congenital diaphragmatic hernia (CDH) is a developmental defect of the diaphragm that allows abdominal viscera to herniate into the chest. Affected neonates usually present in the first few hours of life with respiratory distress that may be mild or so severe as to be incompatible with life. With the advent of antenatal diagnosis and improvement of neonatal care, survival has improved, but there still remains significant risk of death and complications in infants with CDH.

The clinical manifestations, diagnosis, and management of the neonate with CDH will be reviewed here. The pathogenesis, anatomy, incidence, and prenatal diagnosis and management of CDH are discussed separately. (See "Congenital diaphragmatic hernia: Prenatal diagnosis and management".)

EFFECT ON PULMONARY DEVELOPMENT

Because herniation occurs during a critical period of lung development, clinical manifestations of congenital diaphragmatic hernia (CDH) result from the pathologic effects of the herniated viscera on lung development. With rising severity of lung compression, there are corresponding decreases in bronchial and pulmonary arterial branching, resulting in increasing degrees of pulmonary hypoplasia. Pulmonary hypoplasia is most severe on the ipsilateral side. However, pulmonary hypoplasia may develop on the contralateral side if the mediastinum shifts and compresses the lung. Arterial branching is reduced, resulting in muscular hyperplasia of the pulmonary arterial tree, which contributes to the increased risk of persistent pulmonary hypertension (PPHN) [1].

CLINICAL MANIFESTATIONS

Prenatal presentation — Although routine prenatal ultrasound screening may identify CDH at a mean gestational age of 24 weeks, there is a wide range of reported sensitivity in its detection. Associated other anomalies (eg, cardiac abnormalities) are seen in approximately 50 percent of CDH cases, and their presence improves the sensitivity of detecting CDH. Prenatal presentation and diagnosis are discussed in greater detail separately. (See "Congenital diaphragmatic hernia: Prenatal diagnosis and management", section on 'Prenatal diagnosis'.)

Postnatal findings — Postnatally, infants with CDH most often present with respiratory distress in the first few hours or days of life. The spectrum can vary from the more common presentation of acute respiratory distress at birth, to minimal or no symptoms, which is observed in a much smaller group of patients who present later in life. (See 'Late CDH presentation' below.)

                                     

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Literature review current through: Nov 2014. | This topic last updated: Nov 11, 2014.
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