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Genetic counseling and prenatal diagnosis

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Genetic counseling and prenatal diagnosis
Genetic counseling and prenatal diagnosis


Genetic counseling and prenatal diagnosis

Alternative Names:

Prenatal diagnosis

Information:

For over 4000 years, people have noticed that certain diseases run in families, but the "why" was unknown until modern science showed how genetic information is transmitted.

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Present-day medicine recognizes that genetic diseases are inherited based on the nature of DNA, genes, and chromosomes. Now that the human genome has been completely sequenced, scientists are better able to study how changes in DNA cause human disease. This will ultimately help in diagnosing and treating genetic disorders.

However, until science has the knowledge to treat some of the more serious, sometimes fatal genetic disorders, the best option is prevention. Prevention of genetically transmitted diseases may involve egg or sperm donation, preimplantation diagnosis, or termination of affected pregnancies. Adoption may also be considered as an option.

Prenatal diagnosis involves testing fetal cells, amniotic fluid, or amniotic membranes to detect fetal abnormalities. Preimplantation diagnosis is a new technique only available in specialized centers. It involves in vitro fertilization and genetic testing of the resulting embryos prior to implanting only those embryos found not to have the abnormal gene.

Genetic counseling and prenatal diagnosis provides parents with the knowledge to make intelligent, informed decisions regarding possible pregnancy and its outcome. Based on genetic counseling, some parents (in the face of possibly lethal genetic disease) have forgone pregnancy and adopted children, while others have opted for egg or sperm donation from an anonymous donor who is not likely to be a carrier of the specific disease.

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