Table 7

Generalised Bayesian analysis for autosomal recessive disease with two independent risk factors (scenario 4)*

VariableGeneralised Bayesian analysis variables
*Fetus has one detectable mutation (heterozygous). One of the parents (parent A) has the mutation detected in the fetus, but the other parent (parent B) tests negative. Note differences from table 6.
Parent BCarrier (Db+N)Non-carrier
    Prior probability y 1−y
    Conditional probability of negative genetic test1−d1
Conditional probabilities
    Fetus (affected or carrier)
        Affected (Da+Db)0.25
        Carrier (Da+N)0.250.5
        Carrier (Db+N)0.25
    Alleles
        From parent ADa (detected)Da (detected)N (no mutation)Da (detected)
        From parent BDb (undetected)N (no mutation)Db (detected)N (no mutation)
1101
    Risk factor number 1 (echogenic bowel) a b b b
Joint probability0.25ya(1−d)0.25yb(1−d)00.5(1−y)b
ColumnABCD