Table 12

Generalised Bayesian analysis for autosomal recessive disease with one risk factor and no identifiable mutation (scenario 9)*

VariableGeneralised Bayesian analysis variables
*No detectable mutation found in fetus. One parent (parent A) has one detectable mutation; the other parent (parent B) has no detectable mutation. Note differences from table 11.
Prior probability of parentB
    Carrier (Db+N) y
    Non-carrier (N+N)1−y
    Test negative1−d1
Conditional probabilities
    Fetus (mutation)
        Affected (Da+Db)0.25
        Carrier (Da+N)0.250.5
        Carrier (Db+N)0.25
        Non-carrier (N+N)0.250.5
    Risk factor number 1 (that is, echogenic bowel) a b b b′ b b′
    One allele with no mutation detected
        Da000
        Db1
        N11
    The other allele with no mutation detected
        Db1
        N11111
Joint probability000.25by(1−d)0.25b′y(1−d)00.5b′(1−y)
ColumnABCDEF