Table 9

Generalised Bayesian analysis for autosomal recessive disease with one risk factor and no identifiable mutation (scenario 6)*

VariableGeneralised Bayesian analysis variables
*No detectable mutation has been found either in the fetus, or in one of the parents (parent A). The other parent (parent B) has not been tested. Note the differences from Table 8.
Prior probabilities
    Parent A
        Carrier x
        Non-carrier1−x
    Conditional probability
        Test negative1-c1
    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 (echogenic bowel) a b b b′ b b′ b b′ b′
    No mutation detected(1−d)1(1−d)111(1−d)11
Joint probability0.25 axy (1−c) (1−d)0.25 bxy (1−c)0.25 bxy (1−c) (1−d)0.25 b′xy (1−c)0.5 bx (1−y) (1−c)0.5 b′x (1−y) (1−c)0.5 by (1−x) (1−d)0.5 b′y (1−x)b′ (1−x) (1−y)
ColumnABCDEFGHI