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Genetic Counseling

defects birth parents children

Genetic counseling is the professional guidance and education of individuals, families, or potential parents in matters concerning diseases with a genetic component. The process involves a trained genetic counselor who reviews medical records, collects a family history of genetic disorders in relatives, and investigates the scientific literature for known genetic causes. The Human Genome Project has supported the identification of the causes and the development of diagnostic tests for many birth defects. Parents at risk of having children with particular birth defects are those who have previously had affected children or those with affected relatives. For birth defects with a known genetic etiology a genetic counselor may suggest prenatal genetic testing, which can identify affected offspring prenatally from parents at risk of having children with particular birth defects. The genetic counselor will analyze the results of genetic testing and advise the potential parents of the probability of having affected children. The counselor will also explain the alternatives for dealing with the risk of occurrence and provide options for alternative courses of action. Genetic counseling can aid in decreasing the number of children with genetic disorders by providing at-risk parents alternatives that will allow them to have children without particular birth defects. Counseling also helps parents cope with the emotional, social, and economic consequences of genetic disease.


National Human Genome Research Institute. "Information for Patients and Families." Available from http://www.nhgri.nih.gov/Policy_and_public_affairs/Communications/Patients_and_families/; INTERNET.

Oak Ridge National Laboratory. "Genetic Counseling." Available from http://www.ornl.gov/hgmis/medicine/genecounseling.html; INTERNET.

David W. Threadgill

Robert E. Boykin

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