Basic principles of genetic counseling for the obstetrical provider
- Harry Ostrer, MD
Harry Ostrer, MD
- Professor of Pathology, Genetics, and Pediatrics
- Albert Einstein College of Medicine
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.
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- PROVIDERS OF GENETIC COUNSELING
- INDICATIONS FOR GENETIC COUNSELING
- Example of a clinical case
- INFORMATION CONVEYED IN GENETIC COUNSELING
- Likelihood of developing the disease
- Impact of the disease on the patient and family
- Possibility of modifying the impact of disease
- GENETIC TESTING AND INFORMED CONSENT
- PARENTAL CARRIER SCREENING
- SCREENING FOR FETAL ANEUPLOIDY
- FETAL GENETIC TESTING
- SUMMARY AND RECOMMENDATIONS