Put Your Mind At Ease During Pregnancy With Prenatal Genetic Testing

As a mother-to-be, pregnancy can be both an incredibly welcome blessing and a time of uncertainty about what’s to come. Not only is this a fairly exciting period in your life as you dream about your future with your baby, but it’s also simultaneously a relatively nerve-wracking one, as well. When you’re pregnant, your health and the the well-being of your unborn child is top of mind.

While pregnancy can be unpredictable, it is possible to gain understanding about the health of your child through something called NIPT testing. Also known as “noninvasive prenatal testing,” an NIPT test can help put your mind at ease by providing you with some clarity about what the next nine months – as well as the many years ahead – may look like for both yourself and your little one.

What is NIPT Testing?

NIPT is a specific type of blood assay that can help determine the possibility of a chromosomal genetic disorder in an unborn child. While this type of test cannot specifically say for certain if a particular disorder is present in the fetus, it can help clarify the possible likelihood of one developing. Surprisingly, chromosomal disorders are quite common, affecting up to 1 in 150 live births.

Unlike more invasive tests that can lead to the risk of a miscarriage, NIPT testing requires only a blood draw from the mother. Because a baby’s DNA material is present in the mother’s blood, the test can screen the sample to help identify genetic health concerns. NIPT can help shed some light on these possible risks, and give you the opportunity to decide to pursue more accurate – albeit higher-risk – testing, as well.

What Can NIPT Check For?

The primary objective of NIPT is to rule out the chances that an unborn child may have a chromosomal disorder. Furthermore, NIPT can also help provide other insights to the mother, such as whether or not she and her fetus are either Rh-positive or Rh-negative. Incompatibility can come with additional risks, requiring further caution on the mother’s part. In addition, NIPT can also help determine the baby’s sex.

Common Chromosomal Disorders

Because NIPT screens for chromosomal disorders in the unborn child, it can help detect with a fairly high degree of accuracy the presence or absence of a particular chromosome in your baby. While the degree of precision can vary depending on the specific disorder, the results of a test can still provide a fairly reliable baseline. Some of the chromosomal abnormalities that NIPT can determine include:

    • Trisomy 21: Also known as Down syndrome, Trisomy 21 can arise when a duplication occurs on chromosome 21. The presence of an extra copy of this chromosome can directly affect the development of a baby’s brain and body. Oftentimes, a baby born with Trisomy 21 may experience cognitive delays, as well as distinct physical characteristics (such as an enlarged tongue, smaller hands and feet, and almond-shaped eyes).
  • Trisomy 18: This chromosomal condition occurs as a result of an extra copy of chromosome 18. Also known as Edwards syndrome, it can result in a myriad of severe physical and mental complications. Babies born with this disorder typically have heart defects, clenched fists with fingers that overlap, low birth weight, and cognitive delays. Children who are born with Trisomy 18 do not generally live beyond one year of age.
  • Trisomy 13: Caused by an extra chromosome 13, Trisomy 13 is also called Patau syndrome and can lead to severe intellectual impairment in the unborn child. Trisomy 13 is associated with several physical abnormalities, such as heart defects, a cleft lip, extra digits on the hands or feet, and poor muscle tone. The prognosis for this condition is poor, and most children succumb to it within the first few days of their life, with only five to ten percent living past their first year of life.

In addition to these specific chromosomal disorders, NIPT can also help identify the presence of sex-related conditions that may arise a result of having an abnormal number of sex chromosomes. These may include Klinefelter’s syndrome (an extra X chromosome in boys), Triple X syndrome (an extra X chromosome in girls), and Jacob’s syndrome (an extra Y chromosome in boys).

The Accuracy of NIPT 

It’s important to bear in mind that the results of NIPT can only point to the possibility of a certain condition in an unborn child. Results should serve as a guide toward further testing and consultation. That said, the accuracy of NIPT tends to fall anywhere between 92.7 percent (for Trisomy 13) and 99.5 percent (for Trisomy 21).

Ultimately, the next steps following NIPT are personal, and should always be discussed with a healthcare provider.