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Basic principles of genetic counseling for the obstetrical provider


Genetic counseling refers to the process of communicating information about genetic risks. It focuses on susceptibility to disease in individuals who are [1-3]:

  • Suspected of having a heritable disease.
  • At risk because of their family history.
  • Concerned about the possibility of having an affected child based upon personal or family history, age, or ethnicity.

As medical genetics increasingly permeates all fields of medicine, some genetic counseling will be provided by all physicians. Obstetricians, in particular, must take an ethnic history and a thorough three-generation genetic history at the first prenatal examination; they must be able to recognize women at risk of having an affected offspring and provide information and/or referral for prenatal diagnosis. The assessment should include evaluation for genetic diseases and multifactorial congenital malformations, as well as familial diseases with a major genetic component (eg, premature atherosclerosis, diabetes mellitus, deafness, psychiatric disorders, epilepsy, rheumatoid arthritis). The March of Dimes provides sample family medical history forms and questionnaires that can be downloaded.

Obstetricians should have practical knowledge of the following:

  • Modes of Mendelian inheritance, multifactorial inheritance, polygenic inheritance


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Literature review current through: Nov 2014. | This topic last updated: Aug 8, 2013.
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