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Genetic Screening

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    genetic-screening

    Overview

    Genetic testing examines your DNA, the chemical database that contains your body’s instructions. Genetic testing may uncover gene mutations that cause disease.

    While genetic testing may help diagnose, treat, and prevent disease, it has limits. For example, a positive genetic test result doesn’t automatically guarantee you’ll become sick. However, a negative test does not always mean you will not have a condition.

    Everything You Need To Know About Genetic Screening

    What is It?

    As a diagnostic technique, genetic screening may identify people who are at an increased risk of developing a certain condition or who have the gene for a disorder. An individual’s DNA, chromosomes, genes, or proteins may be analyzed using this form of genetic testing. Various characteristics, such as hair and eye color, may be handed down via a person’s genetic makeup, inherited from their parents. In addition, an individual’s genes may have been tampered with, raising their chance of contracting a certain illness.

    Why is it Done?

    It is important to note that genetic testing plays an important part in identifying a person’s risk of getting certain illnesses. Therefore, for a variety of reasons, genetic testing is carried out:

    • Diagnostic testing: Genetic testing may indicate whether you have an illness caused by genetic alterations, or altered genes, as they are more often referred to. Cystic fibrosis and Huntington’s illness, for example, may be confirmed by genetic testing.
    • Carrier testing: There are many reasons to get genetic testing done before you have children, such as having a family history of an illness like sickle cell anemia or cystic fibrosis or being from an ethnic group with a high risk of that illness. As a result of an extended carrier screening test, you and your spouse might be identified as carriers for a broad range of genetic disorders or mutations.
    • Prenatal screening: You may be able to discover certain anomalies in your baby’s DNA if you are pregnant. It is fairly uncommon for prenatal genetic testing to include screenings for Down syndrome and trisomy 18 syndromes. Traditionally, blood indicators or invasive procedures like amniocentesis have been used to determine this. Cell-free DNA testing is a newer kind of testing that examines a baby’s DNA via a mother’s blood test.
    • Preimplantation testing: In vitro fertilization may need the use of this test, which is also known as a preimplantation genetic diagnosis. Genetic abnormalities are checked on the embryos. Then, without defects, healthy embryos are put in the uterus to try to become pregnant.

     

    What to Expect?

    A sample of your blood, skin, amniotic fluid or other tissue will be taken and sent to a laboratory for examination, depending on the kind of test.

    • Blood sample: A needle is inserted into a vein in your arm by a member of your healthcare team. By pricking your baby’s heel, a blood sample may be collected for newborn screening testing.
    • Cheek swab: DNA samples may be taken from the inside of your cheeks for genetic testing in certain cases.

     

    Only in Pregnancy:

    • Amniocentesis: In the fifth month of the pregnancy, amniotic fluid samples are taken by a thin, hollow needle inserted through your abdominal wall and into your uterus for examination.
    • Chorionic villus sampling: During pregnancy, the placenta is sampled for this prenatal genetic test by your doctor. Depending on your condition, a catheter (catheter) may be inserted into your cervix, or a small needle may be inserted into your abdominal wall and uterus.

     

    Procedure

    Samples of blood are taken and submitted to a genetics laboratory for DNA testing. DNA mutations that have been associated with a certain genetic disorder in a particular population are searched for in specific regions of the DNA chain. Detection of genetic illnesses using saliva testing is also possible. For example, Tay-Sachs, which is one of the most deadly of the disorders on the panel, can only be diagnosed using an enzyme test, which requires a blood sample, but it is the most accurate screening method. The results are accessible within a few weeks and reveal whether or not the person has the mutations associated with certain illnesses in a particular community. To understand your findings, you should consult with a certified genetic counselor or a competent doctor, and you should retain a copy of your report in a readily accessible position. No two screening reports are the same. Although it will inform the doctor or genetics expert how likely the patient is to be at risk of developing the illness, there is always a potential that the patient has an undiscovered mutation and may still be a carrier.

    Conclusion

    An individual’s or a group’s genetic risk may be determined via a genetic screening test. It is possible to identify people who may have unusual genes related to genetic illnesses using genetic carrier screening. The likelihood of a child being born with a genetic condition is often assessed during family planning. However, carrier screening may also take place during pregnancy.

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