Please cite this paper as: Madani K, Kamphuis M, Lopriore E, Porcelijn L, Oepkes D. Delayed diagnosis of fetal and neonatal alloimmune thrombocytopenia: a cause of perinatal mortality and morbidity. BJOG 2012;119:1612–1616.
Objective To evaluate the rate and consequences of a late or missed diagnosis of fetal and neonatal alloimmune thrombocytopenia (FNAIT).
Design Retrospective analysis of prospectively collected data of a national cohort.
Setting National referral centre for fetal therapy in the Netherlands.
Population Twenty‐six women with pregnancies complicated by FNAIT and at least one previous pregnancy with a thrombocytopenic child.
Methods Retrospective analysis of data from our electronic FNAIT database. In a consecutive cohort managed between July 2008 and July 2010, timing of first diagnosis of FNAIT was correlated to severity and outcome in the subsequent pregnancies.
Main outcome measures Occurrence of delayed diagnosis of FNAIT, and possibly associated intracranial haemorrhage (ICH).
Results In four of 26 pregnancies, timely diagnostic testing for FNAIT was not performed despite fetal or neonatal thrombocytopenia or ICH. Down syndrome, dysmaturity and birth trauma were perceived to be the cause of the thrombocytopenia/ICH. In two of these four subsequent, untreated pregnancies, severe fetal ICH occurred. The other 22 women were treated for FNAIT using intravenous immunoglobulin, all children are alive and well.
Conclusions All neonates with thrombocytopenia at birth should be evaluated for FNAIT. Missing this diagnosis can have severe consequences for subsequent pregnancies.
Primitive vein popliteal aneurysms are rare and potentially fatal vascular disorders. The most dangerous complications of popliteal vein aneurysms are thromboembolic events, mainly pulmonary embolisms, a life-threatening event that requires a timely diagnosis and prompt management. As a treatable cause of recurrent pulmonary embolisms, their actual incidence is believed to be underestimated. Herein, we present a case report of a popliteal vein aneurysm in a previously healthy16-year old male, presenting with a swelling behind his left knee that causes minimal discomfort while walking. When feasible, early surgical repair of both symptomatic and asymptomatic popliteal venous aneurysms is advised, since they are associated with an ill-defined possibility of pulmonary embolism and mortality, if left untreated.
Malformations of the portal venous system consist of congenital and acquired anomalies. Congenital portosystemic shunts represent rare vascular developmental anomalies that allow partial or complete diversion of blood flow from the portal venous system to the systemic venous system, bypassing the liver. Congenital portosystemic shunts may be associated with malformations or congenital absence of the portal vein, and it was first described by John Abernethy in 1793. Most cases are diagnosed in early childhood, but some congenital shunts may remain asymptomatic and are encountered incidentally because of the widespread use of computed tomography and magnetic resonance imaging. In this report, we discuss the case of a 40-year-old female who presented to the Emergency Department with right upper quadrant pain, nausea, and vomiting. Clinical presentation and abdominal computed tomography angiography were consistent with the diagnosis of calculous cholecystitis and congenital absence of portal vein with intrahepatic portosystemic shunts. We discuss the importance of radiology in diagnosing such incidental malformations, coupled with a review of the current literature on this topic.
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