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Access Excellence Classic Collection

Genetic Counseling: Coping With The Human Impact Of Genetic Disease


Alzheimer Disease - a degenerative disease characterized by progressive loss of memory and other higher mental functions.

amniocentesis - a procedure performed on pregnant women at about 15 weeks from the first day of the last period. A long, thin needle is inserted into the uterus and a small amount of amniotic fluid is removed. The cells cultured from the amniotic fluid can be tested for chromosomal and some genetic disorders. There is a small risk of miscarriage associated with amniocentesis.

amniotic fluid - fluid which surrounds the fetus in the amniotic sac within the mother's uterus

birth defect - an abnormality present at birth. About 3% of all babies are born with some medically significant birth defect. Not all birth defects are genetic, and not all genetic diseases are birth defects.

chorionic villus sampling (CVS) - an alternative to amniocentesis, performed at about 10-12 menstrual weeks, in which a small sample of the placenta is used for chromosomal and DNA testing. CVS provides almost the same information as amniocentesis, but is performed about one month earlier in the pregnancy. CVS is slightly riskier than amniocentesis.

chromosome- a structure consisting of DNA, along with RNA and protein, which is found in the nucleus of eukaryotic cells.

confidentiality - the right to privacy of medical records. Confidential medical records can be shared with others (e.g. insurance companies, employers, relatives) only with written permission of the patient.

dominant trait - a trait which is expressed in both the heterozygous and homozygous allelic conditions.

Down syndrome - chromosomal disorder characterized by presence of a third copy of chromosome 21. For this reason Down syndrome is sometimes called Trisomy 21.

eugenics - the study of applying to genetics to solve social problems and improve the genetic quality of the human race. There is virtually no scientific basis to eugenics.

gene - a unit of hereditary material which, either alone or in conjunction with other genes, defines a phenotypic trait. Genes are located on chromosomes.

genome - all of the genetic material of an organism.

karyotype - a picture of the chromosomes which can identify the sex of a person as well as abnormalities in chromosomal structure or number. With a few exceptions, chromosomal defects are associated with mental retardation.Most chromosomal defects are not inherited; they usually result during a random error in meiosis during the development of the sperm or the egg. Most chromosomally abnormal fetuses (>90%) are spontaneously miscarried, usually in the first trimester of pregnancy. Children who are born with chromosomal abnormalities usually have shortened life-spans.

maternal - concerning the mother or the mother's family.

non-directiveness - respect for a patient's decision such that the counselor does not try to force his or her opinion on the patient or otherwise directly influencethe patient's opinions and decisions. Sometimes, directiveness occurs on asubtle level, such as body posture or tone of voice. It is probably impossible for any counselor to be entirely non-directive.

paternal - concerning the father or the father's family.

patient autonomy - the right of patients to make decisions about their medical care without their health care provider trying to influence the decision. Patient autonomy does allow for health care providers to educate the patient but does not allow the health care provider to make the decision for the patient.

pedigree - a diagram which depicts biological relationships within a family. Men are drawn as squares; women are drawn as circles. Pedigrees usually contain medical information related to a genetic disease. Pedigrees are used to determine who in a family is at risk for a genetic disease.

predictive testing - a test, usually on the blood, which can predict if a currently healthy person will develop a disease. A predictive test may sometimes give the probability that someone will develop a disease, rather than saying with absolute certainty that a genetic disease will or will not develop.

recurrence risk - the chance that a genetic disease or birth defect will occur in a family, given that one relative is already affected with the disease or birth defect.

recessive - a trait which appears only in homozygous allelic conditions.

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