Pregnant women have a number of tests they need to take during pregnancy to make sure they are in good shape and that the fetus is growing properly. If you are expecting, one of the tests you may need to have done is genetic screening. Genetic screening tests search for abnormalities in the key proteins that have been coded by genes. If there is an abnormality with the genetic tests, it could indicate a problem with the fetus.
If there is a disorder in your family line, it may be a good reason to consider having genetic testing done before conception. Preconception testing can help a person learn if they carry a gene alteration that could cause a problem with the fetus. Some of the genetic tests will indicate if there is a risk for problems like cystic fibrosis and other autosomal recessive disorders.
Speaking to Your Doctor
Your doctor will discuss the concerns related to genetic screening based on your health history, family history and age. There are certain genetic problems that will increase as a woman ages. By the age of 45, a woman has a 1 in 30 chance of having a child with Down syndrome. Speaking with a genetic counselor is important to determine the concerns with serious genetic issues.
There are other problems that can increase the risk of birth defects and genetic disorders based on your partner’s family history, exposure to things like radiology and alcohol use. It is important to speak to your family before you plan on receiving tests to find out if there is a family history of genetic disorders.
The first trimester will include a number of screening tests, especially if you are concerned about being at risk of genetic complications. A finger-stick blood test and other screening tests can determine if the baby is at risk of heart problems. Doctors can also identify other makrers, such as the presence of a nuchal fold, which can indicdate Down syndrome. Multiple marker screenings are used to help determine the level of risk your baby has for neural tube defects and chromosomal abnormalities. After the initial screening tests, your doctor may recommend additional testing if the results come back positive or abnormal. The second testing options include amniocentesis and chorionic villus sampling to find out if the fetus will have genetic problems.
Understanding Birth Defects
While some birth defects are inherited, others are not. They can be caused from environmental factors like drinking in the first trimester or exposure to chemicals. The prenatal screening tests help detect most of the issues, but not all. Some birth defects are treatable, while others may not be reversible or treatable. If your tests come back and show that there is an issue with your fetus, it is important to speak to a genetic counselor. They can help you understand the right doctors to speak to pertaining to your case and what needs to be done to help with the coping process. Your baby will need specialized care, which is why it is important to work with the right doctors and team of professionals to help your child.
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With her due date in sight, Janelle Wuertz has temporarily set aside the tools of her trade as a roof repair specialist in Houston, Texas, and is writing about her day-to-day life as an expectant mother.