Genetic screening

Consists of examining (usually high risk populations) to determine whether certain persons are carriers of a specific genetic anomaly or whether there are familial risks related to certain genetic defects.


The process of testing large numbers of people to see if anyone has a particular genetic disorder.


A range of prenatal medical tests aimed at identifying possible birth defects. Some, such as amniocentesis, chorionic villus sampling, cordocentesus, or alpha fetoprotein testing, involve taking samples of material shed by the fetus and analyzing the genetic content for clues as to possible abnormalities. Others, such as fetoscopy or ultrasound scanning, look directly or indirectly at the fetus for visual signs of defects. If abnormalities are identified, parents may choose to terminate the pregnancy with an abortion, attempt correction of the defect through in utero surgery, or prepare for a special child. Differing medical conditions and family histories call for the use of different tests, each with its own strengths and weaknesses, but no test, nor all the known tests combined, can identify all possible birth defects.


Process of analyzing a specific group of people to detect the presence of or susceptibility to a particular disease or diseases. Examples include the screening of all infants for phenylketonuria and the screening of certain racial or ethnic groups who have a high incidence of a particular disease, such as sickle-cell anemia among blacks and Tay-Sachs disease among Ashkenazic Jews.


Medically testing members of a population for individuals who have genes associated with a disease; a form of preventive medicine. Because many diseases are passed from generation to generation, genetic screening is used to detect disease by identifying persons who are at risk.


A screening procedure that tests whether a person has a genetic make-up that is linked with a particular disease. If so, the person may either develop the disease or pass it on to his or her offspring. When an individual has been found to carry a genetically linked disease, he or she should receive genetic counselling from an expert in inherited diseases.


Testing individuals or communities for the presence of specific genetic traits.


 


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