Advice For First-Time Mothers: What to Expect From Prenatal Testing

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For a first-time mother, the decision to start a family can be a complicated one. One of the most important things to consider when becoming pregnant is the future health and well-being of your unborn child.

Fortunately, modern medicine has made it possible for women to give birth with little or no concern about possible complications during labor and delivery. Nonetheless, even with taking all of the necessary precautions during the forty weeks of pregnancy, there’s still the very real risk of babies being born with genetic defects. Because of this, taking the time to understand prenatal genetic screenings – and having these important tests completed – can give you the peace of mind you need during this stressful and exciting time.

Types of Prenatal Genetic Screenings

Currently, there are two main types of prenatal genetic screenings available to expectant mothers. They include noninvasive prenatal testing (or NIPT) and serum screenings. Both types of tests share similarities, but there are a few notable differences between the two. NIPT can be performed as early as nine weeks, but serum screenings can be done at ten weeks. They are both performed with a maternal blood draw and can reveal both the biological sex of the baby and the presence of any chromosomal defects.

Both of these tests are considered to be extremely safe for mothers and their babies. Neither comes with a risk of a miscarriage, and they can provide enlightening information. However, despite their relatively high accuracy, they are occasionally incorrect and may come back with a false positive. They do not offer as in-depth an amount of detail as diagnostic tests, and a follow-up with a diagnostic test may still be necessary.

The Risks and Benefits of Prenatal Testing

The advantages of deciding to move forward with a prenatal genetic screening are multifold and can certainly outweigh any possible risks of undertaking them. Not only can these tests help provide you with the answers to some of your most important questions and concerns about your baby, but they can also arm you with the knowledge necessary to help you make any critical decisions about how you would like to approach your pregnancy.

Conversely, there are a few downsides to electing to undergo prenatal testing, which may influence your decision to have these screenings done. First and foremost, there is the very real risk that you may learn that your unborn child is facing the possibility of genetic complications. If you do get less-than-ideal results, then it’s a good idea to reach out to a healthcare provider or genetic counselor. They can guide you and advise you on your next steps. False positives can also occur, as well, requiring additional testing.

Understanding the Results

Once you receive the results from genetic screening, it’s normal to have more questions than answers. A genetic counselor can help you interpret the results. If there are no concerns or “positive” results, then you can relax and feel more confident that your baby will be born without any major health concerns. If the results come back indicating that there may be an elevated risk of genetic defects, additional testing may be necessary.

At this point, a healthcare provider may advise that you have something called prenatal diagnostic testing done. Unlike prenatal genetic screenings, these tests are much more intensive, but they can also give you much clearer results. In many cases, they can return a 99 percent accuracy rate on chromosomal defects (such as Down syndrome) and a 90 percent accuracy if there is an open neural tube defect present (such as spina bifida). 

Is Genetic Testing Right for You?

No matter where you are in your pregnancy journey, genetic testing can be the missing piece of the puzzle for your peace of mind. There’s no right or wrong answer when it comes to getting these tests done, and the choice is a wholly personal one.