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What You Need to Know About Genetic Testing During Pregnancy

Anne Davis 1059 Views
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When you become pregnant, the laundry list of items that you will need for your new baby begins to take shape. New clothes, for starters, will be necessary for both mom and baby. However, of all the things that may stand out as essential, there is one thing that sometimes tends to fly underneath the radar: peace of mind.

The fact is, pregnancy is an incredibly complex time for expectant mothers, as well as the rest of the family. It can come with a host of emotions, ranging from excitement and elation to anxiety and uncertainty. While no emotion is right or wrong, emotions can add stress. One way to help put your mind at ease is through prenatal genetic testing. With it, you can get answers to questions that you might not have realized you even had.

What Can a Genetic Test Detect?

The decision to undergo prenatal genetic screening is ultimately a highly personal one, and it’s one that both parents should discuss before deciding to proceed with it. However, these tests can help reveal quite a bit of information about the health and viability of an unborn child. With this information in hand, parents can make better-informed decisions about their future. 

Some of the more frequently occurring types of genetic and chromosomal disorders that genetic testing can reveal include:

  • Down syndrome. Also known as Trisomy 21, this condition is characterized by cognitive delays and distinct features (such as almond-shaped eyes and shorter stature). In many cases, patients with Down syndrome can have a relatively long and happy life.
  • Turner syndrome. Affecting biological females, this chromosomal disorder is also called Monosomy X. It occurs when a child is born with only one copy of the X chromosome, and infertility is fairly common in those who have this condition.
  • Spina bifida. A type of neural tube defect, spina bifida is defined as the incomplete development of the spine in an unborn child. Ranging in severity, it can cause profound disability, or it can be quite mild and not even require medical intervention.
  • Cystic fibrosis. This is a fairly serious genetic disorder, and it’s denoted by the presence of thick mucus in the lungs. The prognosis can vary, but a patient’s quality of life can be improved through dietary and lifestyle modifications.

As it currently stands, up to 5 percent of pregnancies will result in genetic defects. Because of this, it’s especially important to take proactive measures to help prevent them. While many genetic disorders may arise idiopathically (that is, without any real cause), some can be traced back to the health and wellbeing of the mother. Avoiding the use of tobacco products, eating a healthy diet, and minimizing stress can all help mitigate this risk.

Common Types of Genetic Tests

Choosing the right type of genetic test for your family’s needs can be complex. Because there are so many different types of genetic assays available to you, it’s easy to feel  overwhelmed by the decision. Nonetheless, it’s important to make sure that you are fully aware of what each of the options are so that you can make the best choice possible. Some tests, such as NIPT (noninvasive prenatal testing) and serum screening tests, tend to pose a lower risk for the unborn child. 

Other tests, however, may give more detailed results but can come with higher risks. These include chorionic villus sampling (CVS) and amniocentesis testing. They can be as high as 99 percent accurate when it comes to conditions like Down syndrome or spina bifida, but there is also the chance that undergoing this test may result in a miscarriage. Before deciding to have these tests done, parents should ideally consult with a genetic counselor to help them better educate themselves about the risk and benefits of genetic testing during pregnancy.

Is Genetic Testing Right For You?

When it comes to genetic testing, there is no firm right or wrong answer as to whether or not it should be done. No matter what you decide, knowing that this option is available can be incredibly empowering for yourself – as well as the rest of your family.