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Prenatal diagnosis in factor XIII-A deficiency
C J Killick1, C J Barton, S Aslam
1Department of Paediatrics, Royal Berkshire Hospital, Reading, Berkshire RG1 5AN.
Archives of Disease in Childhood. Fetal and Neonatal Edition
|April 22, 1999
Summary
Congenital factor XIII deficiency, a severe inherited bleeding disorder, can be diagnosed antenatally. Molecular analysis enabled exclusion diagnosis in a subsequent pregnancy, preventing severe hemorrhage.
Area of Science:
- Genetics and Hematology
- Molecular Diagnostics
Background:
- Congenital factor XIII deficiency is an autosomal recessive bleeding disorder.
- It is often caused by the absence of the factor XIII-A subunit protein.
- Severe bleeding complications can occur in neonates.
Observation:
- A case report of an infant presenting with factor XIII-A deficiency.
- Clinical features included umbilical stump bleeding and post-circumcision hemorrhage.
- Parents were consanguineous, suggesting a genetic inheritance pattern.
Findings:
- Family studies and molecular analysis using a Short Tandem Repeat (STR) marker were performed.
- The STR marker, linked to the factor XIII-A subunit gene, facilitated antenatal diagnosis.
- Antenatal exclusion diagnosis was successfully achieved in a subsequent pregnancy.
Implications:
- Highlights the importance of family history in neonatal surgical risk assessment.
- Demonstrates the utility of molecular diagnostics for antenatal diagnosis of factor XIII deficiency.
- Emphasizes the need for early identification and management of rare bleeding disorders.