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J Int Med Res ; 46(2): 895-900, 2018 Feb.
Article in English | MEDLINE | ID: mdl-29125001

ABSTRACT

Edwards' syndrome also known as trisomy 18 is a congenital disorder associated with cardiovascular issues including ventricular septal defect (VSD), atrial septal defect (ASD) and patent duct arteriosus (PDA). An emergency colostomy was performed on a neonate born with an imperforate anus. Pre-operative transthoracic echocardiography showed presence of VSD, a patent foramen ovale (PFO) or ASD. Even though the baby had a good general condition and optimal peripheral oxygen saturation (SpO2), during positive pressure ventilation, she suffered severe hypoxia (50% SpO2). The cause of the hypoxia was thought to be the right-left shunt and so during a second attempt at anaesthesia a vasopressor (noradrenaline 0.03 µg/kg/min) was infused to increase systemic vascular resistance. Thereafter, SpO2 increased to 80-90% and the surgery was completed. The baby recovered without any neurological complications. Genetic testing post-partum showed she had Edwards' syndrome.


Subject(s)
Anus, Imperforate/surgery , Heart Septal Defects, Ventricular/diagnostic imaging , Hypoxia/physiopathology , Positive-Pressure Respiration/adverse effects , Trisomy 18 Syndrome/genetics , Anus, Imperforate/genetics , Anus, Imperforate/pathology , Colostomy/methods , Echocardiography , Female , Foramen Ovale, Patent/diagnostic imaging , Foramen Ovale, Patent/pathology , Heart Septal Defects, Atrial/diagnostic imaging , Heart Septal Defects, Atrial/pathology , Heart Septal Defects, Ventricular/pathology , Humans , Hypoxia/drug therapy , Hypoxia/etiology , Infant, Newborn , Norepinephrine/therapeutic use , Trisomy 18 Syndrome/diagnostic imaging , Trisomy 18 Syndrome/pathology , Trisomy 18 Syndrome/surgery , Vasoconstrictor Agents/therapeutic use
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