What Conditions are Commonly Tested for During Pregnancy?

During your pregnancy, you will likely be offered tests that can provide information about whether or not certain birth defects or genetic conditions may be present in your baby Tests you may be offered include blood tests, ultrasound or a procedure such as amniocentesis

It is important to keep in mind that most babies without any type of condition or birth defect However, with all pregancies there is a four out of one hundred chance for this to occur This video will provide a brief overview of some of the conditions that may be tested for during pregnancy This information can help you have a more in-depth discussion with your doctor about the testing options, and the conditions that are tested for When it comes to tests during pregnancy, there two kinds of conditions that are commonly discussed: Birth Defects and Chromosome Conditions

Birth Defects can occur in anyone and do not always run in the family You may have heard of some structural birth defects, such as heart defects, or cleft lip and palette The severity of birth defects is variable and they can often be treated Other examples of birth defects are neural tube defects Neural tube defects involve an opening in the spine or the skull

One example of a neural tube defect is spina bifida Another example is anencephaly, which is a more severe life-limiting neural tube defect Other types of conditions that may be tested for during pregnancy are chromosome conditions Chromosomes are structures that hold our genetic information The information that tells our bodies how to grow and function

Chromosome conditions occur when the baby has extra or missing genetic information These conditions usually do not run in families Although the chance to have a baby with a chromosome condition increases with the age of the mother, babies with chromosome conditions are born to women of all ages One of the most common chromosome conditions is Down Syndrome━ also known as Trisomy 21 Trisomy 21 means there are three copies of the 21st chromosome instead of the typical two copies

Individuals with Down Syndrome have some degree ofintellectual disability that can range from mild to severe This condition is also associated with medical concerns that are often treatable Other chromosome conditions that may be tested for include Trisomy 18 and Trisomy 13 Both of these conditions are associated with life-limiting medical complications Some prenatal tests can look for milder chromosome conditions related to differences in the number of X and Y chromosomes

These conditions are called sex chromosome variations Children with sex chromosome variations usually have typical intellectual ability, however they may have learning differences Some of these conditions are associated with a higher chance for health concerns that are often treatable Because these conditions are so mild, some individuals may go through life without ever even knowing they have a sex chromosome variation In summary, prenatal testing can look for a wide range of conditions from mild to severe It is also important to know that no prenatal test can rule out all genetic conditions or birth defects

If you have a family history of a specific genetic condition or birth defect, or questions about anything presented in this video, we recommend you talk to your doctor or genetic counselor You can find more detailed information about these conditions on Genetic Support Foundation's website See the other videos in our series to learn more about specific prenatal testing options and how to decie if prenatal testing is right for you


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