A Team Approach To Prenatal Diagnosis And Reproductive Genetics
Our care team includes experts in maternal-fetal medicine, medical genetics and fetal and neonatal care. Our licensed genetic counselors are trained to explain how genetics work in an easy-to-understand way, interpret genetic test results, and provide one-on-one counseling.
Our genetics team works closely with experts in UChicago Medicines Fetal & Neonatal Care Center, including our maternal-fetal medicine physician team and pediatric specialists at Comer Childrens Hospital. If your baby is at risk for a complex genetic disorder, such as a Down syndrome, trisomy 18, or trisomy 13, our clinicians can counsel you about your options and provide the most innovative treatments and services for you and your baby.
Genetic Testing Is Not Only Available It Is Supported By Experts
According to the American College of Obstetricians and Gynecologists, all women who are pregnant or considering pregnancy should be offered genetic testing.3-5
1. Stevenson RE, Hall JG, Everman DB, et al. Human Malformations and Related Anomalies. 3rd ed. Oxford University Press 2015.2. Most suitable implies the expected number of chromosomes indicated by Invitae preimplantation genetic testing.3. American College of Obstetricians and Gynecologists. Prenatal diagnostic testing for genetic disorders. Obstet Gynecol. 2016.4. American College of Obstetricians and Gynecologists. Carrier screening for genetic conditions. Obstet Gynecol. 2017 129:e41e55.5. American College of Obstetricians and Gynecologists. Screening for fetal chromosomal abnormalities. Obstet Gynecol. 2020 136:e48e69.
Invitaes mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people.
Quick Facts About Dna Tests While Pregnant
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What Is A Glucose Tolerance Test During Pregnancy And Why Is It Done
A glucose tolerance test is usually done during the second trimester of pregnancy, between 24 and 28 weeks. However if you have certain risk factors, like weight, or having a previously large baby they may test you earlier .
The test is used to screen for gestational diabetes, which is a type of diabetes that can develop during pregnancy.
Gestational diabetes happens when your body cant make enough insulin to handle the extra glucose in your blood during pregnancy. Insulin is a hormone that helps your body use or store glucose for energy.
For most women, gestational diabetes doesnt cause any noticeable symptoms. Thats why its important to get screened for the condition with a glucose tolerance test. If Gestational diabetes is not treated, it can lead to high blood sugar levels during pregnancy. This can cause problems for you and your baby, such as:
-Excessive weight gain in your baby
-Increased risk of cesarean delivery
-Breathing problems in your baby after birth
I want to be really clear on the fact that most often there is no way for you to know if you have gestational diabetes. These women dont tend to feel much different than other pregnant women so taking this test is truly the only way!
Hey, did you know that you are also at the perfect spot to take this too?
Chapter : Ways To Take Action Based On Your Results
Embryo screening to reduce your childâs potential genetic risks
Embryo screening allows you to quantify each embryoâs genetic risks for common conditions and prioritize the transfer of embryos with the lowest genetic risk. This allows you to potentially reduce your childâs genetic risks.
Learn more about how this is done at Orchid and potential benefits of embryo screening for your family in our guide here.
Prenatal or preconception diagnostic testing for single-gene disorders
If you are identified to be at risk for having a child with a single gene disorder, you can consider:
- Testing your embryos created through in vitro fertilization for this specific gene and preferentially transferring the embryos that are not affected. This type of test is commonly referred to at preimplantation genetic testing for monogenic disorders or PGT-M.
- Electing to do prenatal diagnostic testing during pregnancy by collecting amniotic fluid to test the babyâs DNA. The procedure needed is called amniocentesis and is done after 16 weeks of pregnancy.
Increased awareness, screening, and lifestyle modifications
Knowing if you or your child has an increased genetic predisposition to certain conditions can encourage your family to be more proactive about your health, including taking preventative screening measures and developing healthy diet and exercise habits.
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Chapter : How To Evaluate What Type Of Genetic Test Is Best For You
Letâs be honest: bringing a child into this world is hard â itâs entirely normal to have mixed feelings about such a life-altering event. While having kids is something usually thought to be a happy event , itâs also scary because it feels like thereâs so much that you donât have control over.
When it comes to your childâs health, there’s a lot to think about. Forecasting the future through genetic testing can be an emotional process that opens a lot of doors. Here are some pointers to help you decide which preconception genetic testing approach is best for you.
How much information do you want to know, really?
If youâre using advanced genetic testing, youâre going to learn a lot of information about you and your future childâs health.
The key difference between âold schoolâ genetic testing and ours is that with Orchid, youâre much more likely to get meaningful information that can impact you and your future children down the road. Data from large scale studies suggest that about 20% of the general population are three times more likely to develop at least one of the common conditions tested.
Not everybody wants that much information. And thatâs perfectly okay. But some people want to be more informed about their future childâs health risks. They would prefer not to go into this already emotionally fraught process blind.
Assess your personal and family history
- Breast Cancer
What Is Carrier Status Screening
Most people can carry gene mutations that, potentially, could cause a health problem, even though they do not have the problem themselves. With some conditions, if they conceive with a partner who carries the same type of gene, every child they conceive will have a 1 in 4 chance of being born with the condition.
Testing your genes before you try for a baby is called carrier status screening. It lets you consider different options, like having IVF or making sure you have diagnostic testing during pregnancy.
Different screening options are available, including:
- a 3-gene carrier screen, which screens for carriers of cystic fibrosis, spinal muscular atrophy and fragile X syndrome
- a single-gene carrier screening, which screens for one specific genetic condition
- expanded carrier screening, which screens for carriers of many common and rare inherited conditions
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Schedule Your Genetic Counseling Consultation
Genetic testing is right for people who have symptoms of a genetic heart disease or have a family history of a genetic heart condition. It might also be right for you if you dont fit into these situations, but wish to be proactive about your health. Speaking to a genetic counselor can help you learn more about this.
Taking A Genetic Screening Test
My first step was to call my OB-GYN to make an appointment for blood work. It turns out that genetic screening before pregnancy is considered optional by many insurance providers, despite my familys ancestry and risk, so testing could cost thousands of dollars out of pocket. No thanks! I started Googling other options. Thats how I came across JScreen, a genetic screening saliva test that screens your risk for more than 200 diseases that are predominant in the Jewish community. The not-for-profit program is based out of Emory University and tests samples in a CLIA-certified lab and is funded by several Jewish organizations so each kit only costs $149 whether your insurance covers testing or not. To order a test, I had to provide my doctors information so she can sign off and receive the results , and thats it. While you dont have to be Jewish to order a JScreen kit, there are other at-home genetic screening kits available on the market, including Invitae, which is ordered through a similar process with your doctor and costs $250. For me, JScreen made the most sense.
Thats good to hear, but it led to my next big question: But what happens if I do carry something serious? For me, the next step would be to have my husband take a test as well, then we would have to consider our options
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What Is A Preconception Carrier Screening
Preconception carrier screening is a genetic test that can tell if you carry a gene for certain genetic disorders. It can tell you if you are at risk of having a child with a genetic disorder.
- Preconception means the testing is done before you get pregnant.
- Being a carrier means you have the gene inside your cells, but you dont have the condition, or you have very mild symptoms. You could pass on the gene without knowing you have it.
- A screening is a test that is done to see if you have a condition even though you are not showing symptoms.
Group B Strep Culture
Group B streptococcus is a type of bacteria found in the lower genital tract of about 20 percent of all women. While a GBS infection does not usually cause problems in women before pregnancy, it can cause serious illness in mothers during pregnancy. GBS may cause chorioamnionitis and postpartum infection. Urinary tract infections caused by GBS can lead to preterm labor and birth or pyelonephritis and sepsis.
GBS is the most common cause of life-threatening infections in newborns, including pneumonia and meningitis. Newborn babies contract the infection during pregnancy or from the mothers genital tract during labor and delivery.
The Centers for Disease Control and Prevention recommends screening all pregnant women for vaginal and rectal GBS colonization between 35 and 37 weeks gestation. The treatment of mothers with certain risk factors or positive cultures is important to reduce the risk of transmission of GBS to the baby. Babies whose mothers receive antibiotic treatment for a positive GBS test are 20 times less likely to develop the disease than those without treatment.
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A Word Of Caution About Genetic Testing During Pregnancy
Although advances in genetic testing have improved doctors ability to diagnose and treat certain illnesses, there are still some limits. Genetic tests can identify a particular problem in a chromosome or gene, but cant always predict how severely a person who has the condition will be affected, as all of us are unique. We will do everything we can to help provide the support and information you need, with the understanding that there may be some things we wont know until your baby is born.
What Can You Do If Youre At Risk For Gestational Diabetes
If youre at risk for gestational diabetes, there are a few things you can do to help lower your chances of developing the condition:
-Get regular exercise. Exercise can help your body use insulin more effectively.
-Eat a healthy diet. Eating lots of fresh fruits, vegetables, and whole grains can help your body control blood sugar levels.
-Maintain a healthy weight. If youre overweight, losing just 5 to 10% of your body weight can help lower your risk of gestational diabetes.
It is important to consider these things even before pregnancy, so Im glad youre thinking about it.
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When Is The Right Time To Undergo Genetic Testing
Women have several options for genetic testing. You dont necessarily have to be pregnant to decide to have genetic screening. If you and your partner share a similar family history of conditions such as Down syndrome, Tay-Sachs, or cystic fibrosis, for example, then you may both wish to undergo carrier screening before deciding whether to become biological parents.
As we said earlier, most women undergo first-trimester screening. This is optional, but your obstetrician may recommend it. Its generally done after week 10 of pregnancy and strongly recommended if your pregnancy is considered high-risk.
If you didnt undergo first-trimester screening, you may opt for a maternal serum quad screening during your second trimester. This involves a blood draw and an analysis of certain protein markers in your blood that indicate if the fetus has trisomy 13 , trisomy 18 , or trisomy 21 . Neural tube defects, such as spina bifida are also part of the test. The quad screen may be completed any time between weeks 16 and 23 of pregnancy with the optimal time frame at weeks 1618 of gestation.
If you and your partner share a similar family history of conditions such as Down syndrome, Tay-Sachs, or cystic fibrosis, for example, then you may both wish to undergo carrier screening before deciding whether to become biological parents.
Family Health History And Planning For Pregnancy
Thinking about having a baby? If you have a family health history that includes a birth defect, developmental disability, newborn screening disorder, or genetic condition, you might be more likely to have a baby with this condition. Learning more about your family health history before you get pregnant can give you time to address any concerns. Remember to consider the family health history of both potential parents, not just mom. Be sure to discuss any concerns with your doctor.
Based on your family health history, your doctor might refer you for genetic counseling. Other reasons for genetic counseling include having had
- Infertility ,
- A previous pregnancy or child with a genetic condition or birth defect, or
- A baby who died at less than 1 year of age.
After genetic counseling, you might decide to have genetic testing for conditions that could affect your baby. Results from these tests could impact your pregnancy planning. Testing before you get pregnant can give you time to think about what the results mean for you and consider all your options.
If the results show that you are a carrier for a genetic condition, the other parent would also need to have carrier screening to know if you could have a baby with the condition.
1 Recommendations are from the American College of Obstetricians and Gynecologists and the American College of Medical Genetics
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A: Screening Results Using Enhanced First Trimester Screening As An Example:
Enhanced First Trimester Screening calculates the chance that the baby has Down syndrome or trisomy 18. It does not screen for open neural tube defects or any other condition. eFTS uses the age of the pregnant person/egg donor at the time of delivery, the size of the nuchal translucency on a first trimester ultrasound, and the levels of certain hormones in the pregnant persons blood that are being produced by the current pregnancy. A risk is then calculated estimating the chance that the baby has either condition. Generally, for eFTS, a risk greater than 1/350 is considered screen positive and any risk lower than this is a screen negative. For more on eFTS see AFTER: The next steps
What if my eFTS result is a screen NEGATIVE?
This is reassuring. This means that the chance that your baby has Down syndrome or trisomy 18 is LOWER than the screening cut-off . Note that the screening cut-off may vary by laboratory and condition.
What do I do next?
What if my eFTS result is a screen POSITIVE?
This means that the chance of your baby having Down syndrome or trisomy 18 is HIGHER than the screening cut- off . This result does not necessarily mean that your baby has one of these genetic conditions. Remember that most babies are born without an anomaly.
A nuchal translucency measurement greater than 3.5 mm is an automatic screen positive for Down syndrome and certain other disorders and should prompt a referral for genetic counselling.
Is an eFTS screen POSITIVE result accurate?
How Much Does Preconception Genetic Testing Cost
The cost of preconception genetic testing will depend on what test or tests you opt to do as well as your insurance coverage for these tests. Most insurance plans cover or partially cover preconception genetic tests if they are recommended by your doctor, but you should check beforehand to make sure. The tests can run anywhere from a couple hundred dollars to a couple thousand dollars if you are paying out-of-pocket.
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What To Expect At Your First Visit
During your first appointment which can be face-to-face or virtual we will talk to you about potential risk factors for genetic disorders. We will go over your and your partners medical history, including your age, past miscarriages, lab test results, health conditions, allergies and medications. We will also create a detailed family medical history that plots out any diseases and conditions that have affected your parents, children, siblings, grandparents, and other relatives. This will help us identify any trends in inheritable diseases that may run in your family.
Based on this assessment, we can tell you whether your baby might be at risk for any genetic concerns and what genetic tests are available to help us better determine your babys risk of having a genetic disorder. Our main goal is to give you the information you need to make informed choices about your pregnancy and your babys health.
Screening Tests Offered By The Nhs
All women in England, Scotland and Wales are offered screening tests for Downs syndrome, Edwards syndrome and Pataus syndrome and sickle cell disease and thalassaemia. The conditions are also known as trisomy 21 , trisomy 18 and trisomy 13 , because in each case a baby has three copies of the chromosome rather than the typical two.
These tests are optional, it is your individual choice to have these screening tests or not. It can help you decide if you know about the conditions being screened for. Find out more here:
- Downs syndrome:
There is more on these tests here:
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