Prenatal diagnosis of factor X deficiency using a combination of direct mutation detection and linkage analysis with
Rodney Camire1, Ruth Ann Denchy, George A Day
1Department of Pediatrics, The University of Pennsylvania, School of Medicine and The Children's Hospital of Philadelphia, Philadelphia, USA.
Objective:
To present a family in which it was possible to perform prenatal diagnosis for recessively inherited factor X deficiency using both direct mutation detection as well as linkage analysis.
Methods:
In a family where both parents were known to be carriers of factor X deficiency, fetal DNA was obtained from an ongoing pregnancy by CVS in the first trimester. Direct DNA sequencing was used to detect a previously identified factor X mutation, and linkage analysis using a single nucleotide polymorphism (SNP) was used to follow the segregation of the other parent's factor X alleles.
Results:
Our studies predicted the fetus in question to be a heterozygote carrier of factor X deficiency, and this was demonstrated to be correct at birth.
Conclusions:
This is the first reported case of prenatal diagnosis of factor X deficiency. In addition, this case demonstrates the remarkable utility of SNPs in linkage analysis of rare genetic disorders.
