The relative accuracy of a questionnaire compared with pedigree analysis in genetic risk assessment for infertility

For infertile couples family history assessment can add valuable information about genetic infertility and possible risks for offspring. We created a genetic questionnaire for eliciting family history and asked whether it could capture information similar to a pedigree.

Infertile male patients completed a genetic questionnaire and had a pedigree obtained by a genetic counselor. We assessed the accuracy of the questionnaire to elicit family history information compared to the gold standard pedigree.

Of 93 patients 76 (82%) patients indicated relevant genetic information. A comparison of the 2 methods revealed that 61 (80%) patients failed to report key genetic information on the questionnaire that was ascertained by the pedigree. Assessment of 5 relevant family history elements revealed that the questionnaire missed 75% or more of stillbirths, birth defects, developmental delay/learning disabilities/mental retardation, recurrent miscarriages and congenital heart defects. The positive predictive value and the negative predictive value of the questionnaire ranged from 67% to 100% and 74% to 87%, respectively. The sensitivity and specificity of the questionnaire ranged from 12% to 30% and 98% to 100%, respectively.

A comprehensive family history questionnaire is not as reliable for capturing relevant, genetic information as a pedigree. The optimal method will become more important as our knowledge of genetic infertility and its implications expands.