title: The relative accuracy of a questionnaire compared with pedigree analysis in genetic risk assessment for infertility.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Urology, University of California San Francisco, San Francisco, California 94143-1695, USA.
authors.forename: Kari Danziger
authors.initials: KD
authors.lastname: Kaplan
authors.forename: Monica
authors.initials: M
authors.lastname: Brown
authors.forename: Mary S
authors.initials: MS
authors.lastname: Croughan
authors.forename: Paul J
authors.initials: PJ
authors.lastname: Turek
mesh_terms: D000328:Adult; D005190:Family; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D007248:Infertility, Male / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D008487:Medical History Taking; D010375:Pedigree; D015203:Reproducibility of Results; D018570:Risk Assessment; D011795:Surveys and Questionnaires