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 you can prepare for, others remain a mystery. It’s all part of the excitement of expecting. When it comes to your baby’s health, however, you can begin learning valuable information before you even become pregnant.
It’s all about DNA.
When an egg and sperm combine to become a fertilized egg, DNA is passed on from both parents. If that DNA contains a mutation, it can be passed on to the fetus. We all carry some mutations in our DNA and most babies are born healthy, however a genetic disorder can be inherited, or occasionally something happens randomly in the DNA in the initial stages of development and it gets damaged in some way, leading to an abnormality. There are two types of tests that can provide valuable insights into your baby’s health: Carrier Screening and Noninvasive Prenatal Screening (NIPT).
Carrier Screening for you and your partner
Many people want to know as much as possible when planning for or expecting their baby, and advances in genetics can help you understand more than ever before. Whether you are planning your pregnancy or are pregnant already, a simple blood test can help you get insights on whether you are at increased risk of having a child with an inherited disorder. Known as carrier screening, it will indicate whether either parent is a carrier of the specific mutations that cause disorders such as cystic fibrosis (CF). Even if no one in your family is affected by an inherited disorder, it is still possible to be a carrier. Inheritest® Carrier Screen offers a variety of disorder panels ranging from just a few disorders to over 500. Talk to your doctor to determine which Inheritest carrier screening panel is right for you.
Completing your carrier screening
The process of getting your screening is easy. First, a blood sample is collected from you (and possibly your partner) and sent to a laboratory for analysis, and then 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 Inheritest, 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 – NIPT
After you become pregnant, you can screen for a range of chromosomal abnormalities (such as Down syndrome), using cell-free fetal DNA (cfDNA)—genetic material that is released by the placenta and is present in a woman’s blood during pregnancy. Before testing with cfDNA was available, options were limited and often required an invasive procedure such as amniocentesis, which has a small risk for miscarriage. You can now get clear, accurate screening through a simple blood draw for a noninvasive prenatal test (NIPT) like MaterniT® 21 PLUS. Best of all, you can have this test during your first trimester, and as early as 9 weeks into your pregnancy.
Completing your noninvasive prenatal test
Professional organizations that help set testing guidelines, like American College of Obstetricians and Gynecologists (ACOG), recommend noninvasive prenatal tests for all pregnant women as part of routine prenatal care. Rest assured, the process of screening with an NIPT is easy. According to Integrated Genetics, the provider of MaterniT® 21 PLUS, after your blood sample is sent to the lab results are typically returned in five days.
What happens if your results are positive?
While positive results are rare, they indicate an increased risk of a baby born with a genetic disorder, yet screening tests are not diagnostic. Further confirmatory invasive procedures, such as chorionic villus sampling (CVS) or amniocentesis may be recommended. That’s why it’s beneficial to complete a non-invasive carrier screening and NIPT first.
As mentioned earlier, chromosomal abnormalities are quite rare, but detecting them early can help a doctor recommend specialized care for a baby. The information parents receive may provide a crucial and timely alert helping prepare for the future. Those among the low number of people who turn out to have abnormal results have an opportunity to discuss them with a genetic counselor and explore the best decisions available for their expecting family.
It’s important to note that with both carrier screening and NIPT, a negative result does not completely eliminate the risk that the developing baby will have a genetic abnormality. However, both screening tests can help you gain as much information as possible so that, together with your doctor, you can make the best health care decisions for you and your baby.
Talk to your doctor about which tests he or she plans to order. While many tests are covered by insurance, some are not unless you are considered high risk. Integrated Genetics offers a free cost estimate on their website and will work directly with you to make sure testing is accessible, out-of-pocket costs are transparent and provide you with cost options through their Every Mom Pledge. Visit Integrated Genetics to learn more.
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- 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