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Genetic Counseling for Patients With Birth Defects
Aylsworth, Arthur S
Article from Journal - ilmiah internasional
Pediatric Clinics of North America vol. 39 no. 02 (Apr. 1992)
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Appropriate genetic counseling for birth defects depends on accurate diagnosis and correct application of the principles of human genetics and statistics while giving thoughtful, personal attention to each individual’s concerns. This process may be complex because of etiologic and pathogenetic heterogeneity. A diagnosis is made after evaluating gestational history for environmental factors, family history for genetic factors, and patient anatomy for clues to embryologic mechanisms. Genetic counsel¬ing is based on a combination of theoretic risk assessment and empiric observations. Counseling for birth defects may be difficult and stressful because of imprecise data and uncertainty about how they should be applied and interpreted. Health professionals engaged in counseling should educate patients and families about the assumptions involved and the limitations inherent in risk estimates.
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