Mt. Sifontes et al., CORRELATION BETWEEN THE FUNCTIONAL ASSAY FOR ACTIVATED PROTEIN-C RESISTANCE AND FACTOR-V-LEIDEN IN THE NEONATE, Pediatric research, 42(6), 1997, pp. 776-778
A factor V-506 Arg-Gln mutation is the most common inherited cause of
thrombophilia in adults, To date, there are no data regarding the dete
ction of this mutation in neonatal blood or the relationship of this d
ysfunctional factor V to neonatal thrombosis, This study compared a mo
dified activated protein C resistance functional assay with the PCR-ba
sed DNA assay for the factor V mutation in 115 prospectively collected
umbilical cord blood samples, The incidence of activated protein C re
sistance in cord blood was 6%. The sensitivity and specificity of the
modified assay for the factor V Leiden mutation was 100%.