Article

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 01/2009; 2:7212. DOI: 10.4076/1757-1626-2-7212
Source: PubMed

ABSTRACT 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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    ABSTRACT: Tracheal agenesis is a rare congenital airway anomaly that usually results in a fatal outcome. The diagnosis is usually made through post-mortem examination. In the current literature, there has been no reported long-term survival although a few reports claimed prolongation of life of several hours to days. This condition is commonly associated with premature birth, polyhydramnios and a male predominance. In 90% of the cases, it is associated with multiple cardiovascular, gastrointestinal and genitourinary tract anomalies which are incompatible with life. We report a case of a premature newborn with severe respiratory distress, absent cry and cyanosis soon after birth. Attempts at endotracheal intubation failed as it was no possible to negotiate the tube beyond the vocal cords. Needle cricothyrotomy and attempted tracheostomy also failed to secure the airway. The diagnosis was confirmed at post-mortem examination.
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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.
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Jun 5, 2014