Table 8

Generalised Bayesian analysis for autosomal recessive disease with one risk factor and no identifiable mutation (scenario 5)*

VariableGeneralised Bayesian analysis variables
*No detectable mutation found in fetus. Neither parent tested.
Prior probabilities
    Parent A
        Carrier x
        Non-carrier1−x
    Parent B
        Carrier y y
        Non-carrier1−y1−y
Conditional probabilities
    Fetus (mutation)
        Affected (Da+Db)0.25
        Carrier (Da)0.250.5
        Carrier (Db)0.250.5
        Non-carrier0.250.50.51
    Risk factor number 1 (that is, echogenic bowel) a b b b′ b b′ b b′ b′
    No mutation detected(1−c) (1−d)(1−c)(1−d)1(1−c)1(1−d)11
Joint probability0.25 axy (1−c) (1−d)0.25 bxy (1−c)0.25 bxy (1−d)0.25 b′xy0.5 bx (1−y) (1−c)0.5 b′x (1−y)0.5 by (1−x) (1−d)0.5 b′y (1−x)b′ (1−x) (1−y)
ColumnABCDEFGHI