What is Genetic Counseling? how does it help you? Genetic counseling is a process of enabling individuals,
families or couples to make decisions about health complications.
It is a way of knowing about genetic or hereditary disorders and problems that may be passed on to future generations. This information helps people make decisions about their health, pregnancies, and the health of their children.
1) Know, important questions and answers related to genetic counseling
Genetic counseling is a health screening process that helps individuals, families or couples understand their genetic conditions and risks.
A genetic counselor is a physician with specialized training in medical genetics and counseling.
Genetic counselors can help in the following ways:
- Evaluation of potential genetic disease risk by examining genetic conditions and family health history
- Interpretation of genetic testing and recommending other tests if necessary
- Help with understanding genetic test results
- Providing support throughout the process
Genetic counselors should be consulted in the following situations:
- when deciding to conceive
- To know the family health history of the couple planning the pregnancy
- To check for abnormal test results during pregnancy screening
- To find out genetic conditions, neurological conditions, abnormal physical characteristics, and chances of birth defects in the baby born
Prenatal genetic testing gives information to parents about whether their fetus has certain genetic disorders.
Genetic disorders are caused by changes in a person’s genes or chromosomes. Down syndrome is a genetic disorder and one of the most common autosomal chromosome abnormalities in humans.
There are two common types of prenatal testing for genetic disorders:
- Prenatal Screening Tests: These tests can tell you if your fetus has aneuploidy or additional conditions similar to it.
- Prenatal diagnostic tests: These tests can tell you whether your fetus actually has certain disorders. These tests are performed on cells from the fetus or placenta obtained through amniocentesis or chorionic villus sampling (CVS). FAQ 164 Prenatal Genetic Diagnostic Tests focuses on these tests.
Generally speaking, both screening and diagnostic tests are offered to all pregnant women.
First trimester screening includes a pregnant woman’s blood test and an ultrasound test. Both the tests are usually done together and are done between 10 weeks and 13 weeks of pregnancy.
Second-trimester screening involves the following tests: This measures the levels of four different substances in your blood. There is a quad test screening for Down syndrome, trisomy 18 and neural tube defects. It is performed between 15 weeks and 22 weeks of pregnancy. Ultrasound exams performed between 18 weeks and 20 weeks of pregnancy check for major physical defects in the brain and spine, facial features, abdomen, heart, and limbs.
First- and second-trimester test results can be combined in a variety of ways. Combined test results are more accurate than earlier test results. If you choose combined screening, keep in mind that final results are often not available until the second trimester.
A positive screening test result for aneuploidy means that your fetus is at a higher risk of having the disorder than normal. This does not mean that your fetus definitely has the disorder.
Diagnostic testing with CVS or amniocentesis that gives a more definitive result is an option for all pregnant women. Your doctor will help you decide on next steps in this regard.
Any type of test shows you a possibility. Your doctor can suggest next steps depending on the likelihood of the problem.
It is your choice whether to undergo prenatal genetic testing or not. Your personal beliefs and expenses can be important factors in deciding on prenatal testing.
This fact may be important in how you use the results of the prenatal screening test in your pregnancy care. Remember that a positive screening test only tells you that your baby is at high risk of having Down syndrome or other aneuploidy.
Genetic tests help you understand the options, diagnosis, and underlying causes of genetic disorders. Also guide you through making any decisions regarding genetic testing or family planning. Some parents want to know in advance whether there is any possibility of genetic disorder in their child. This information gives parents time to learn about the disorder and plan for the child’s medical care. Get more information about this from your doctor.
Content by jananam
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