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Congenital diaphragmatic hernia: Prenatal diagnosis and management

Authors
Holly L Hedrick, MD
N Scott Adzick, MD
Section Editor
Louise Wilkins-Haug, MD, PhD
Deputy Editor
Vanessa A Barss, MD, FACOG

INTRODUCTION

Congenital diaphragmatic hernia (CDH) is a developmental discontinuity of the diaphragm that allows abdominal viscera to herniate into the chest. Although the diaphragmatic defect is surgically correctable, in utero herniation of viscera results in pulmonary hypoplasia and pulmonary hypertension, which are often fatal.

EMBRYOLOGY AND PATHOGENESIS

Visceral herniation into the thoracic cavity occurs during the critical period of lung development when the bronchi and pulmonary arteries are undergoing branching, from just after the third week postfertilization through the 16th week of gestation. Interference with normal lung development at this time results in decreased bronchiolar branching and loss of pulmonary mass (pulmonary hypoplasia) [1], as well as truncation and over-muscularization of the pulmonary arterial tree, leading to pulmonary hypertension with structural and functional pulmonary vascular abnormalities after birth [2]. Abnormal development of the lung also results in a dysfunctional surfactant system late in gestation and after birth [3-6] and may cause hypoplasia of ipsilateral cardiac structures [7].

The pathogenesis of CDH has not been established definitively. The leading theories are that it is due to failure of normal closure of the pleuroperitoneal folds during the 4th to 10th weeks postfertilization or to genetic or environmental triggers that disrupt differentiation of mesenchymal cells during formation of the diaphragm and other somatic structures [8-10].

Familial cases involving autosomal recessive, autosomal dominant, and X-linked inheritance patterns have been reported [11-14]. However, the vast majority of CDH occurs sporadically, with no identifiable familial link. Even among monozygotic twin pairs, concordance for CDH is rare: in a large CDH registry, there were no concordant cases among the five monozygotic twin pairs [15].

Many different genetic defects (eg, aneuploidies, deletions, duplications, translocations) have been identified among sporadic cases [16,17]. These cases may represent de novo mutational events in genes for normal diaphragmatic development or reflect polygenic or multifactorial inheritance, or both.

                       

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Literature review current through: Nov 2016. | This topic last updated: Tue Apr 05 00:00:00 GMT+00:00 2016.
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