Chances are, if you’re interested in learning more about noninvasive prenatal screening, you’re in the first trimester of pregnancy. To begin with, congratulations! You’ve already come so far, but this journey is just beginning.

Of course, there is so much to be excited about, but some parents become a little nervous when the topic of genetic testing comes up. It’s time for parents to decide whether or not they should screen for a potential issue. We understand that decisions of this nature can be difficult, but most expectant parents feel a little better when they are well-informed about the topic before making a choice.

If you’re uncertain, working with an experienced healthcare provider can help you to feel comfortable and empowered with whichever decision you choose. But first, let’s discuss what a noninvasive prenatal screening is, how it works, and who is the best candidate for this screening. This way, you can make informed decisions that best suit your values and needs.

What Is Noninvasive Prenatal Screening?

Noninvasive prenatal testing (NIPT) — also known as noninvasive prenatal screening (NIPS) — is a medical test that allows expectant mothers to determine whether or not their child will be born with genetic abnormalities. These tests analyze DNA within the mother’s blood. Noninvasive prenatal screening can be performed at 10 weeks pregnant, and most people get their test before 21 weeks.

How Noninvasive Prenatal Screening Works

Healthcare providers consider this type of prenatal screening to be noninvasive because this test only requires a blood sample from the mother and has no impact on the child.

Noninvasive prenatal screening estimates whether or not there is an increased risk that the child will experience a genetic disorder. When a woman is pregnant, her blood contains maternal DNA and cell-free fetal DNA. Essentially, cell-free fetal DNA is DNA from the placenta within the mother’s bloodstream. The test will be positive if it detects abnormal amounts of specific DNA. For instance, high amounts of chromosomes 13, 18, or 21 could mean that the child has an extra copy of one of these chromosomes, indicating that they may have a genetic disorder.

Because the fetal DNA is taken from the mother’s bloodstream, noninvasive prenatal screening can also test both the mother’s DNA from the same sample. So the test may also reveal the mother’s genetic condition.

Once the screening is complete, you can expect to receive your results within five to ten days. However, keep in mind that since this is only a test, there is always a chance that false negative or positive results may occur.

What Does Noninvasive Prenatal Screening Test for?

In the past, healthcare providers tested for prenatal genetic disorders using serum tests. However, this testing method wasn’t nearly as accurate as the modern screening process. With serum testing, 1 out of 20 individuals who received prenatal screening for Down Syndrome received a false positive. In contrast, noninvasive prenatal screening test results showed that only 1 out of 1,000 individuals who were screened for Down Syndrome received a false positive.

Noninvasive prenatal screening can test for many different chromosomal abnormalities, including the following:

• Down Syndrome
• Edwards Syndrome
• Patau Syndrome

In addition, noninvasive prenatal screening can also test for genetic disorders caused by abnormalities in the X or Y chromosome. Some parents also choose this type of test to find out the sex of their child, primarily because it delivers results sooner than an ultrasound. However, bear in mind that if your choose to use a noninvasive prenatal screening to test for the sex of your baby, there is always a chance that you could receive results that indicate a genetic disorder, so ensure that you are mentally prepared for the results.

Are You a Candidate for Noninvasive Prenatal Screening?

Noninvasive prenatal screening is entirely optional, so whether or not you choose to undergo this screening is based on your personal values and needs. However, your healthcare provider may recommend these tests to expectant parents under the following conditions: 

• You are at the maternal age of 35 or older
• You have a familial or personal history of pregnancies with chromosomal abnormalities
• You have a maternal or paternal chromosomal abnormality

The choice to undergo a noninvasive prenatal screening is very personal, so there is no pressure to perform this screening if you are not comfortable with it. While some expectant mothers consider the test reassuring, others find it entirely nerve-wracking.

Practically speaking, some pregnant individuals may prefer to emotionally and mentally prepare for raising a child with a genetic abnormality. If the tests are positive, noninvasive prenatal screening allows parents time to learn more about their child’s condition before the baby arrives. Furthermore, some parents would like to receive results to plan in advance or begin treatments as soon as the baby is born. Prenatal screening also gives expectant mothers the option to prepare an adoption plan with a child with a disability, while others may choose not to continue with the pregnancy.

However, many expectant mothers decide that a prenatal screening will cause too much anxiety and stress, so they choose to wait until the child is born to determine if the baby has a genetic condition. Both paths are completely valid choices, so allow yourself the freedom to choose whichever is best for you.

How to Obtain Information and Support If Your Results Are Positive

Although noninvasive prenatal screening is an excellent source of information regarding your pregnancy, a positive test result can lead to many unanswered questions. You may wonder about the quality of life that your child will experience and how you can best support your child when born. In addition, you may also wonder where you can find accurate, reliable information about a specific condition.

Many expectant parents fall victim to out-of-date or purely inaccurate information regarding genetic disorders, especially when searching the internet. If you receive a positive result, remember that treatments for genetic conditions have vastly improved compared to years prior. Consider speaking to your healthcare provider about resources for up-to-date, accurate information so that you can make informed decisions about your pregnancy.

In addition, you can always ask your healthcare provider for a referral to a certified genetic counselor. Genetic counselors are healthcare professionals that undergo specialized training for prenatal genetics and the emotions that accompany your test results. You can also find a genetic counselor by using the “Find a Genetic Counselor” link on the www.nsgc.org website.

Navigate Your Pregnancy with 2Me Healthcare

Whether you’re considering a noninvasive prenatal screening or you’ve already received your results, it is important that you work with a qualified, experienced healthcare provider that will support you every step of the way. If you’re in need of knowledgeable healthcare professionals that prioritize your needs, contact 2Me Healthcare today. We’re ready to support, educate, and care for you throughout your pregnancy journey.

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