Screening For Carriers Of Disease Germs Before Pregnancy

What is a screening test for a carrier of a disease gene before pregnancy?
Screening for a carrier before a pregnancy is a test that can be done before deciding on a pregnancy to predict the chance of a baby having a genetic disorder.
What are carriers of disease genes?
A carrier of a diseased gene is a person who has no symptoms (or only mild symptoms) of a disorder, but is able to pass the gene that causes the disorder to the offspring.
How is the screening test for carriers of pathogens carried out?
Screening for carriers of disease germs is done through blood or saliva swabs. The sample will be sent to a lab for testing. Usually one of the fathers or mothers, who is more likely to carry the defective gene, will be tested first

. If the results show that the first person is not a carrier of the disease gene, no additional testing is needed. If the results show that the first person is carrying the germ of the disease, another person must be tested.
When are tests available for carriers of disease germs?
Screening tests can be done before pregnancy or during pregnancy If you get tested before pregnancy, you will have more options later on and more time to decide.




There are currently tests to identify which carriers
There are currently only a handful of diseases that can be screened, including: cystic fibrosis, fragile X chromosome syndrome, sickle cell disease, and Tay-Sachs disease.
Those who should be considered for screening for germs before pregnancy
Doctors or genetic counselors can help identify people who are at high risk for carrying the germs through a family history check, by asking questions about their health. and family. People at high risk are those who:
have a genetic disorder
have had children with genetic disorders
someone in your family has a genetic disorder
belongs to a group of people known to be at high risk for certain genetic disorders
What ethnic groups are at high risk for genetic disorders, and which screening tests are recommended for these groups?
Some ethnic groups are more likely to have genetic disorders. Generally, individuals from the following ethnic groups should be tested:
Whites who are not Hispanic or white should be screened for cystic fibrosis.
People of Eastern European Jewish descent should be tested for Tay-Sachs disease, Canavan's disease, autonomic nervous system disorders, and cystic fibrosis. In addition, screening for mucolipidosis type IV, Niemann-Pick disease type A, Fanconi anemia type C, Bloom syndrome, and Gaucher disease should also be screened
Africans, Mediterranean, and Southeast Asians should get tested for Mediterranean anemia and sickle cell disease.




What do the screening results for carriers of the disease gene tell you?
Based on the screening test, your doctor or genetic counselor will calculate the probability of having a baby with a genetic disorder. For common genetic disorders, if both parents carry the disease gene, the probability of having a genetic disorder is 25%; the chance of a child becoming a carrier, like a parent, is 50%. If only one parent is a carrier, the chance of a child becoming a carrier of the disease gene is 50% and the case of children with genetic disorders is 0%.
What is a false positive result? What is a false negative result?
A false positive result is when a person does not carry the disease gene but has a positive test result. A false negative result is when a person has a diseased gene but has a negative result. Because the screening tests are likely to be wrong, it is possible that there may be a negative result but the baby will still have a genetic disorder.
What decisions should you make if you know you have the disease gene?
If both spouses carry the disease gene, you have several options. You may still decide to be pregnant, but you should do a prenatal diagnosis, or you can do artificial insemination using eggs or sperm from another person, in combination with a pre-embryonic genetic diagnosis.



You can also choose not to be pregnant.
What is the law against genetic information?
In the United States, anti-genetic information laws do not allow doctors to ask or use genetic information to decide on coverage rates or available insurance conditions. Nor may an employer use genetic information to hire, or fire, or make any employment decisions.
Interpretation of terms
Sickle cell disease: an inherited disorder with sickle-shaped blood cells that causes anemia and chronic pain The disease usually occurs with people of African origin.
Tay-Sachs disease: is a genetic inherited condition that causes mental retardation, blindness, epilepsy, and patients usually die before age 5. The disease usually occurs among Eastern European Jews, Cajun (Acadia), and Canadian French descent.
Pre-embryo diagnosis: is a genetic test done with ash.

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