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J Med Genet 41:e70 doi:10.1136/jmg.2003.015065
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Bayesian risk assessment for autosomal recessive diseases: fetal echogenic bowel with one or no detectable CFTR mutation

Table 12

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

Variable Generalised 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 negative 1−d 1
Conditional probabilities
    Fetus (mutation)
        Affected (Da+Db) 0.25
        Carrier (Da+N) 0.25 0.5
        Carrier (Db+N) 0.25
        Non-carrier (N+N) 0.25 0.5
    Risk factor number 1 (that is, echogenic bowel) a b b b′ b b′
    One allele with no mutation detected
        Da 0 0 0
        Db 1
        N 1 1
    The other allele with no mutation detected
        Db 1
        N 1 1 1 1 1
Joint probability 0 0 0.25by(1−d) 0.25b′y(1−d) 0 0.5b′(1−y)
Column A B C D E F

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