title: Prenatal exclusion of severe factor VII deficiency.
abstract: A nonconsanguineous asymptomatic couple, were identified as carriers of factor VII (FVII) deficiency when two of their newborn children died of massive intracranial hemorrhage secondary to severe congenital FVII deficiency. Complete sequence analysis of the factor VII (F7) gene in this couple indicated that the mother was heterozygous for an A to G transition at position -2 of the exon 5 acceptor splice site, and the father was heterozygous for a G to T transversion at position +1 of the exon 6 donor splice site. This information allowed us to exclude a compound heterozygous deficiency state in a subsequent pregnancy using PCR/direct sequencing of the F7 gene using DNA obtained from chorionic villi at 10 weeks' gestation. Our experience with the family reported here further supports the conclusion that mutation-specific detection is reliable in the prenatal exclusion of severe bleeding disorders.
authors.affiliation: University of Malaya Medical Center, Kuala Lumpur, Malaysia. hany@um.edu.my
authors.forename: Hany
authors.initials: H
authors.lastname: Ariffin
authors.forename: David S
authors.initials: DS
authors.lastname: Millar
authors.forename: David N
authors.initials: DN
authors.lastname: Cooper
authors.forename: Teresa
authors.initials: T
authors.lastname: Chow
authors.forename: Hai-Peng
authors.initials: HP
authors.lastname: Lin
mesh_terms: D015193:Chorionic Villi Sampling; D005168:Factor VII Deficiency / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis