Pauker S P, Pauker S G
Yale J Biol Med. 1977 May-Jun;50(3):275-89.
The decision which prospective parents face concerning mid-trimester amniocentesis for prenatal diagnosis was examined by decision analysis. The prospective parents' decision depends on the likelihood of the birth of a child affected by a genetic disorder, the risk of amniocentesis, and the probability that the diagnoses provided by the amniocentesis will be correct. The couple's decision must also depend on their attitudes toward each possible outcome. The likelihoods of the outcomes can be obtained from appropriate medical consultation, while the relative costs or burdens of the outcomes should be obtained from the prospective parents. A truly informed decision for this couple can then be formulated from these probabilities and values, thus allowing genetic counseling to be more directive. The technique is illustrated for the prenatal diagnosis of Down's syndrome, meningomyelocele, and Duchenne muscular dystrophy.
通过决策分析研究了准父母在孕中期进行羊膜穿刺术以进行产前诊断时面临的决策。准父母的决策取决于患有遗传疾病的孩子出生的可能性、羊膜穿刺术的风险以及羊膜穿刺术提供的诊断正确的概率。这对夫妇的决策还必须取决于他们对每种可能结果的态度。结果的可能性可以从适当的医学咨询中获得，而结果的相对成本或负担应该从准父母那里获得。然后可以根据这些概率和价值为这对夫妇制定真正明智的决策，从而使遗传咨询更具指导性。该技术用于唐氏综合征、脊髓脊膜膨出和杜兴氏肌营养不良症的产前诊断。
