Genetic counseling and prenatal diagnosis
Alternative names:
prenatal diagnosis
Information:
For over 4000 years, certain human abnormalities have been noted to run in families but the "WHY" of the observations did not become apparent until the advent of modern genetics and the recognition of how genetic information is transmitted. Before then one only heard the admonition, "it's in the blood" (thought to refer more to bloodline rather than some abnormal element in the blood).
Present day medicine has recognized how genetic diseases are inherited based on an understanding of the nature of DNA, genes, and chromosomes. Scientists are presently trying to "map" the chromosomes, to determine the location and function of all of the millions of genes in each chromosome. This will ultimately help in treating genetic disorders.
However, until science has the ability to treat some of the more disastrous and ultimately fatal genetic disorders the best remaining recourse is prevention. Prevention of genetically transmitted disease can consist of major choices: abstinence from pregnancy, artificial insemination, prenatal diagnosis, and termination of affected pregnancies.
Prenatal diagnosis involves testing fetal cells, amniotic fluid, or amniotic membranes to detect fetal abnormalities.
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 other have opted for artificial insemination from an anonymous donor who is not a carrier of the specific disease.
Many diseases transmitted as a single gene defect can now be diagnosed very early in pregnancy. Because of this some parents have elected to become pregnant and then, early in the pregnancy, had the disease status of the fetus determined. The pregnancy is continued if the fetus is disease-free. Parents who decide to continue the pregnancy with a defective fetus may be able to better prepare to care for the infant by being informed about the disease in advance.
RELATED TOPICS:
autosomal dominant
autosomal recessive
sex-linked dominant
sex-linked recessive
For detailed information, see heredity and disease (genetics).
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