Genetic Testing And Screening Pdf
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Back to test list. Approximately 1 in 16 people is a carrier of one or more of these conditions.
- Genetic Screening for Birth Defects
- Genetic Testing
- Counseling About Genetic Testing and Communication of Genetic Test Results
Genetic Screening for Birth Defects
We all have 46 chromosomes in our cells. Chromosomes are made from DNA. Genes are short sections of DNA deoxyribonucleic acid and each chromosome contains hundreds to thousands of genes. Genes contain the information our bodies need to make chemicals called proteins. Proteins form the structure of our bodies and play an important role in the processes that keep us alive.
Birth defects, which occur in nearly one in 20 pregnancies, range in severity from minor anatomic abnormalities to extensive genetic disorders or mental retardation. Some couples have a greater than average risk of having a child with a birth defect. Genetic screening refers to the use of specific tests to determine which members of a population are at increased risk for an inherited condition. Genetic testing, in contrast, is the use of specific tests to characterize the genetic status of an individual who is suspected to be at increased risk for an inherited disease. These terms are frequently used interchangeably. Genetic screening may help identify couples who have an increased risk of age-related or familial genetic disorders and birth defects.
Genetic testing can provide information about a person's genes and chromosomes. Available types of testing include:. Newborn screening is used just after birth to identify genetic disorders that can be treated early in life. Millions of babies are tested each year in the United States. All states currently test infants for phenylketonuria a genetic disorder that causes intellectual disability if left untreated and congenital hypothyroidism a disorder of the thyroid gland.
Read terms. This document reflects emerging clinical and scientific advances as of the date issued and is subject to change. The information should not be construed as dictating an exclusive course of treatment or procedure to be followed. ABSTRACT: Given the increasing availability and complexity of genetic testing, it is imperative that the practicing obstetrician—gynecologist or other health care provider has a firm comprehension of the benefits, limitations, and risks of offering a specific genetic test, as well as the importance of appropriate pretest and posttest counseling. The purpose of this Committee Opinion is to provide an outline of how obstetrician—gynecologists and other health care providers can best incorporate these tests into their current practices and provide appropriate pretest and posttest counseling to patients. Obstetrician—gynecologists and other health care providers should determine which tests will be offered as the standard in their practices so that similar testing strategies are made available to all patients. Practices should have procedures in place that ensure timely disclosure of test results to patients.
application of genetic screening tests. Screening was originally proposed as a means of early disease detection in asymptomatic. individuals in.
Counseling About Genetic Testing and Communication of Genetic Test Results
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Genetic Screening for Birth Defects
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