If you’re planning to have a child, then you might want to consider a non-invasive pregnancy test (NIPT). Prospective parents did not always have the option to determine if their baby might be at an elevated risk for certain genetic problems. However, NIPT has been developed to help give parents reassurance that their child will be born healthy. It has also allowed parents to better plan for the future, should the testing reveal potential issues.
What is Non-invasive Pregnancy Testing?
When we think about pregnancy testing, we usually envision urinating on a stick and waiting for the faint blue line to appear. When the test result is positive, it can bring a sense of joy and hope for the future. Everyone wants to have a healthy baby, but the reality is some babies are at risk for genetic disorders. This is where an NIPT comes in useful by helping to determine potential abnormalities.
NIPT does not prevent any disease, but it does give parents an earlier opportunity to start preparing for what may lie ahead. One method of NIPT, called carrier screening, is done prior to becoming pregnant. Carrier screening tests the genetic material, deoxyribonucleic acid (DNA), of both the prospective mother and father.
Since DNA provides the blueprint for passing on the traits from each parent to their child, it is important to understand that any genetic defects from either or both parents can be inherited by their child. If one or both parents are carriers, then it raises the possibility of their child being afflicted, but it does not absolutely mean the child will have the disorder.
Why Should You Choose NIPT Carrier Testing?
Unfortunately, there are hundreds of diseases and conditions that can be passed on to a child through their parents’ genetics. NIPT carrier testing can reveal risks such as blood disorders, spinal muscular atrophy, Tay-Sachs disease, cystic fibrosis, and sickle cell. It is especially important to consider NIPT carrier testing for the following reasons:
- Any family history of genetic disorders
- If one or both parents have potentially inherited health problems
- Persons of certain ethnicities with a predisposition of genetic disorders
- To start treatment earlier should testing reveal a disease
- To better plan for your child’s future
How is NIPT Carrier Testing Performed?
Fortunately, NIPT carrier testing is easy. It can be done using a draw of blood, taking a saliva sample, or having the cheek swabbed. There are some options on what tests you can have done. Some prospective parents might want a test for specific disorders that run in their family. Others might want to have an extended carrier screening performed to look for a wider variety of possible genetic problems.
Where Can Testing Be Done?
The first step when considering undergoing NIPT is to speak with your doctor about your and your partner’s health and family history. If you decide to proceed with testing, then you’ll go to a lab to have a blood sample collected. The lab will perform the tests ordered by your doctor. It generally takes two or more weeks for the results to come back.
What if My and My Partners’ Have a Positive Result?
When both partners have a positive result as a carrier for a genetic disorder, it does not always mean the child will be affected by the disease. For autosomal recessive mutations, there is a twenty-five percent chance the child will not have the defect or be a carrier. There is a fifty percent chance the child will be a carrier, but still not exhibit the problem. There is a twenty-five percent chance for the child to have the disorder. For autosomal dominant mutations, there is a fifty percent chance the child will or will not have inherited the disorder.
Making the Choice for NIPT Testing
It is important to remember that most babies can be born healthy regardless of their parents’ genetic make-up. You and your doctor should consider the risks of passing on an inherited disorder when deciding on whether or not to undergo carrier testing. Carrier testing may help children receive treatment earlier for an improved outcome. With carrier testing performed prior to conception, future moms and dads will be empowered to make choices that are best for their family.