Postmortem DNA diagnosis of factor V Leiden in a neonate with systemic thrombosis and probable antithrombin deficiency.
BACKGROUND
Spontaneous neonatal thrombosis due to heritable gene defects has been reported in the past. A recently discovered defect, the factor V Leiden mutation, is the most frequent inherited risk factor for venous thrombosis.


METHODS
Factor V Leiden was diagnosed postmortem in a neonate who died from complications of vena caval and aortic thrombosis. Investigation into the family history revealed that the father had a record of multiple thromboses, and blood testing demonstrated that the father had antithrombin deficiency and the mother was heterozygous for factor V Leiden. Although we were unable to demonstrate directly the presence of antithrombin deficiency in the infant, we propose that a combination of the two inherited disorders was likely the cause of fatal neonatal thrombosis.


CONCLUSIONS
The present report highlights the importance of a complete prenatal genetic analysis, including factor V Leiden testing and antithrombin measurement in families with a history of thrombotic disorders.
Department of Pathology, University of California Irvine Medical Center, Orange 92863-1491, USA.
R S
RS
Newman
G S
GS
Spear
N
N
Kirschbaum
D000991:Antithrombins / Q000172:deficiency*; D001012:Aorta, Abdominal; D004247:DNA / Q000032:analysis; D005165:Factor V / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D013927:Thrombosis / Q000150:complications* / Q000175:diagnosis*; D014682:Vena Cava, Inferior
D000991:Antithrombins; D005165:Factor V; D004247:DNA