This post is sponsored by Lurie Children’s Hospital, but all of the opinions within are those of The Everymom editorial board.
"Having a baby on the way brings an incomparable amount of excitement and joy into your life. However, it’s no secret that feeling a bit stressed out and overwhelmed is part of the experience as well, especially as a first-time parent who’s concerned about how to tackle any unprecedented health issues or genetic abnormalities your baby may have. Luckily, prenatal genetic testing is an incredibly helpful process that can help you adequately prepare for certain health conditions that you and your child could be facing upon giving birth.
Genetic testing can be a daunting and overwhelming process to face, especially if you don’t know much about it. If you’ve recently learned that you will be undergoing prenatal genetic testing or are wondering if it’s something you should pursue, we’ve built a resource to answer all your questions with our long-standing partners at Ann & Robert H. Lurie Children’s Hospital of Chicago and The Chicago Institute for Fetal Health. We asked their experts in genetic counseling to share everything you need to know about prenatal genetic testing, and here’s what they had to say:
Meet the Expert
Kristen Young, MS, CGC
Genetic Counselor I, Genetics, Genomics and Metabolism
What is prenatal genetic testing?
Prenatal genetic testing is for any pregnant person who wants to screen for common genetic conditions prior to giving birth. Whenever an abnormality is seen in an ultrasound that suggests the possibility of an increased risk for rare conditions, genetic testing may be offered. From that point, patients can meet with a genetic counselor to talk through what testing will entail and what the results can tell you about your baby. Genetic screening tests (typically through a simple blood test) tell you if there is a risk of a fetus having a genetic condition, while diagnostic tests (typically through retrieving amniotic fluid or placenta) can tell you more certainly whether the condition exists.
Genetic testing is open to everyone experiencing pregnancy or hoping to become pregnant. While some genetic testing historically focused more on high-risk populations (patients over 35 or with a family history), genetic conditions can occur in any pregnancy.
Should you still get genetic testing even without a family history of genetic abnormalities?
Ultimately, the answer to this commonly asked question depends on how much information you’re seeking. Many genetic-related conditions aren’t necessarily hereditary (i.e. they may occur brand new in a pregnancy without being inherited from a parent) so there is a chance that a mutation may be present but unrelated to a family history.
Additionally, even if a genetic abnormality is passed down through generations, individuals may only be carriers of the genetic abnormality as opposed to presenting with a genetic condition. So, even if there is no family history that you’re aware of, there can always be findings.
What type of genetic testing is available?
Testing is typically separated into screening and diagnostic testing. While screenings can relay genetic information and possible genetic conditions, diagnostic testing can confirm whether a fetus does have a certain condition.
Genetic Screenings
Carrier screening test
This is a blood test for the parents that looks at the parentsā genetic information. Many times, this happens before a patient wants to become pregnant and in cases when prospective parents are pursuing IVF. But, beyond IVF prep, anyone can do a carrier screening. It can also be done during pregnancy. This test looks to see if the parent carries a genetic change that could get passed on to a child.
Cell-free DNA screening (NIPT)
Like the carrier screening test, the cell-free DNA screening is also obtained by a blood test but differs in that it must be collected during pregnancy. This test screens for Down syndrome and other chromosomal differences that could impact the baby. This screening takes a look at placental DNA (which in most cases, is the same as babyās DNA) and can tell whether a baby is at high or low risk for certain conditions.
Diagnostic Testing
There are two common diagnostic procedures that provide the most accurate information: amniocentesis and chorionic villus sampling. Once a sample is obtained through a diagnostic procedure, it is sent for further genetic testing to definitively confirm whether a baby has a certain health condition like Down syndrome or cystic fibrosis.
Amniocentesis
Amniocentesis is done after 15 or 16 weeks and takes amniotic fluid from around the fetus through a hollow needle inserted through the skin and into the uterus.
Chorionic villus sampling
Chorionic villus sampling (also called a CVS) is done between 10-13 weeks of pregnancy and involves taking a placenta sample. The sample is taken using a needle inserted through the abdomen, or a small tube inserted through the cervix.
Both of these procedures are performed under ultrasound guidance and usually take about 10 minutes. There are small risks associated with diagnostic testing that should be discussed with your provider.
Are there any long-term risks of genetic testing?
With diagnostic testing, there are small risks to the patient and baby that should be discussed with your doctor. Screening tests involve no physical risks, but for some families, testing can involve emotional risks and lead to stress. Thereās a risk you are met with a test result that brings more questions than answersāfor example, genetic changes with uncertain implications for the baby. The experts at Lurie Children’s Hospital are well-versed in providing care for families who are faced with these challenges and understand that this can be an anxiety-inducing experience for any family. They cite that the key to an optimal genetic testing experience is open communication with your medical team who will provide you with as much helpful information as possible to relieve as much stress as possible.
What are the next steps if something comes back āpositiveā on your genetic testing?
Firstly, your providers will explain whether a positive result means your baby is only at risk for certain genetic conditions or if there is a definitive diagnosis. In either case, your medical team will work to educate you and your family about the diagnosis (or potential diagnosis).
Then, your medical team will work with you and your family to make a plan that aligns with your care goals. Patients continuing a pregnancy may need increased monitoring with a high-risk OB specialist. In some cases, patients may meet with a fetal care center for delivery planning and meeting with pediatric specialists.
Your medical team will help guide you through any results and provide you with all the information you need on how to best move forward. It’s completely normal to feel overwhelmed, but you can trust they have your best interest in mind and are there to support your family above all.
About Ann & Robert H. Lurie Childrenās Hospital of Chicago
Led by a team of world-renowned pediatrics experts, Lurie Childrenās is the #1 pediatric hospital in Illinois and an institution we trust for all things kidsā health. With 140 years of clinical expertise, research, and community engagement, the team at Lurie Childrenās is committed to putting children and their families at the center of everything they do. We are honored to partner with Lurie Childrenās to help educate our readers about how we can help our kids lead a healthier future. Learn more about Lurie Childrenās and find a doctor near you today!
This post was in partnership with Ann & Robert H. Lurie Childrenās Hospital of Chicago, but all of the opinions within are those of The Everymom editorial board.