TY - JOUR T1 - Prenatal diagnosis in factor XIII-A deficiency JF - Archives of Disease in Childhood - Fetal and Neonatal Edition JO - Arch Dis Child Fetal Neonatal Ed SP - F238 LP - F239 DO - 10.1136/fn.80.3.F238 VL - 80 IS - 3 AU - Caroline J Killick AU - Carol J Barton AU - Shazia Aslam AU - Graham Standen Y1 - 1999/05/01 UR - http://fn.bmj.com/content/80/3/F238.abstract N2 - Congenital factor XIII deficiency is a severe bleeding disorder that is inherited as an autosomal recessive trait. The condition is commonly due to absence of the factor XIII-A subunit protein in the plasma. The case of a baby is reported who showed typical clinical features of factor XIII-A deficiency, including recurrent bleeding from the umbilical stump and a life threatening haemorrhage after circumcision. Family studies were performed and molecular analysis, using a Short Tandem Repeat (STR) marker closely linked to the A subunit gene, allowed antenatal exclusion diagnosis to be undertaken in a subsequent pregnancy. The case highlights the importance of seeking a family history of bleeding disorders before surgery in the neonatal period, particularly if the parents are consanguineous. ER -