Failed resuscitation of a newborn due to congenital tracheal agenesis: a case report

Department of Neonatology, Máxima Medical Center, PO Box 7777, 5500 MB, Veldhoven, The Netherlands.
Cases Journal 07/2009; 2(7):7212. DOI: 10.4076/1757-1626-2-7212
Source: PubMed


Tracheal agenesis is a rare congenital condition. It usually presents as an unexpected emergency during resuscitation of a newborn in the delivery room. The condition is almost always fatal in the resuscitation phase, but also when the neonate survives the long term prognosis remains poor. We present a case of tracheal agenesis, discuss its presenting symptoms and possibilities for antenatal diagnosis and review the therapeutic options.

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Available from: Gesina van Lijnschoten, Jan 13, 2014
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    • "Forty-nine cases of TA, including our case, were found [1, 2, 4–7, 9–11, 14, 17, 18, 20, 23, 24, 26, 29–33, 35–38, 40, 42]. The perinatal characteristics, diagnostic investigations, and management are summarized (Table 1). "
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    ABSTRACT: Tracheal agenesis (TA) is a severe congenital disorder with often an unexpected emergency presentation. There is complete or partial absence of the trachea below the larynx, with presence or absence of a tracheoesophageal fistula (TOF). A neonate with TA is described, and another 48 cases found in literature are reviewed. Due to absence of a TOF, five cases were diagnosed prenatally because of congenital high airway obstruction syndrome (CHAOS). When a TOF is present, polyhydramnion and several other congenital malformations seen on the ultrasound examination should alert clinicians of potential tracheal problems. Prenatal magnetic resonance imaging (MRI) may provide a definitive diagnosis. Postnatal diagnosis is based on recognition of specific clinical signs in the newborn with TA: respiratory distress with breathing movement without appropriate air entry, no audible cry, and failed endotracheal intubation. Despite progress in surgical interventions, mortality remains high. Prenatal diagnosis of TA is possible, but only if a TOF is absent resulting in CHAOS. Prenatal diagnosis of polyhydramnion and other congenital malformation should alert clinicians of potential tracheal problems. Prenatal MRI may provide a definitive diagnosis.
    European Journal of Pediatrics 09/2011; 171(3):425-31. DOI:10.1007/s00431-011-1563-x · 1.89 Impact Factor