Right from the outset, planning to bring a new life into the world is filled with unknowns, as you wonder what your baby will be like and how your life will change. While there are some things that will remain a mystery, there are actions you can take now to learn more about baby’s health while you’re trying to conceive and during pregnancy.
Let’s start with the basics
When egg and sperm combine to become a fertilized egg, DNA is passed on from both biological parents, and if that DNA contains a variant it can be passed on to the baby. We all carry some variants in our DNA and most babies are born healthy, but there are variants that can be associated with genetic disorders. These variants can be inherited or can occur randomly in an egg or sperm.
Carrier screening for you and your partner
Many people want to know as much as possible when planning for a baby, and advances in genetics can help you understand more than ever before. Whether you are planning your pregnancy or you’re pregnant already, a simple blood test can help you get insights into if you’re at increased risk of having a child with a subset of inherited disorders.
Carrier screening will study your DNA to determine if you carry a variant that could lead to a genetic disorder if it were passed on to a child. Even if no one in your family is affected by an inherited disorder, it is still possible to be a carrier. Labcorp offers a variety of carrier screening panels of different sizes, ranging from just a few disorders to over 500. Talk to your doctor to determine if carrier screening with a Labcorp Inheritest panel is right for you.
Completing your carrier screening
The process of getting screened is easy. First, a blood sample is collected from you (and possibly your partner) and sent to a laboratory for analysis. The results will be returned to your doctor in about two weeks.
You and your doctor can then discuss any potential risks that may inform your family planning path. If you screen with Labcorp, you’ll also be provided support from genetic counselors who can help you better understand your results.
Screening for the genetic health of your baby – NIPS
You can do an additional screening test, referred to as NIPS (noninvasive prenatal screening), after you’re pregnant. NIPS will help determine if your baby is at increased risk of having a chromosomal disorder (such as Down syndrome). The test measures cell-free fetal DNA (cfDNA) — genetic material that is released by the placenta and is present in a woman’s blood during pregnancy.
While NIPS is the most sensitive screening test of its kind and is highly reliable, like any screening test, false negative and positive results can happen. NIPS is not diagnostic. This means that if NIPS detects a potential chromosomal abnormality, you’ll need to consult with your healthcare provider to determine next steps, which might include further diagnostic testing. NIPS screening, like MaterniT® 21 PLUS, requires a simple blood sample, which can be drawn any time in pregnancy beyond 9 weeks.
Completing your noninvasive prenatal test
It’s recommended that all pregnant patients be offered both NIPS and diagnostic testing as part of routine prenatal care. And the process is easy and fast. According to Labcorp, the provider of MaterniT® 21 PLUS, after your blood sample is sent to the lab, your results are typically returned in five days.
What happens if your results are positive?
Positive results are rare and indicate an increased risk that your baby has a genetic disorder, but NIPS does not confirm that your baby has a genetic disorder. If you get a positive test, your provider will likely recommend more testing, such as chorionic villus sampling (CVS) or amniocentesis. This type of diagnostic testing can confirm if the result is a true positive.
If you do receive confirmation of a positive result, you might consider speaking with a genetic counselor to explore the best next steps for your family. Knowing more about your baby’s genetic condition can help your provider recommend specialized care for your baby, if necessary.
Anything else?
It’s important to note that with both carrier screening and NIPS, a negative result does not completely eliminate the risk of the baby having a genetic disorder. Both screening tests are designed to help give you more information. This way, together with your provider, you can make the best healthcare decisions for you and your baby.
Talk to your provider about which tests they plan to order. While many tests are covered by insurance, it’s a good idea to do some research. Labcorp offers a free cost estimate on their website and will work directly with you to make sure testing services are accessible and out-of-pocket costs are transparent through their Every Mom Pledge. Visit Labcorp to learn more.
Sources
- https://ghr.nlm.nih.gov/primer/mutationsanddisorders/genemutation
- https://www.labcorp.com/help/patient-test-info/cell-free-fetal-dna
- The American College of Obstetricians and Gynecologists. Prenatal diagnostic testing for genetic disorders. Practice Bulletin No. 162. May 2016. Obstet Gynecol. 127(5): 108-122. 10.1097/AOG.0000000000001405.
- Chong JX, et al. A Population-Based Study of Autosomal-Recessive Disease-Causing Mutations in a Founder Population. Am J Hum Genet. 2012 Oct 5; 91(4): 608-Q20
