Navigate Your
Genetic Journey
With Confidence
Wherever you are in your family planning journey, there are genetic tests that can answer important questions. Our Genome Care NavigatorTM can help find the right one.
Navigate Your
Genetic Journey
With Confidence
Wherever you are in your family planning journey, there are genetic tests that can answer important questions. Our Genome Care Navigator can help find the right one.
How the Genome Care Navigator Works
Let’s navigate genetic testing and counseling, together. We’re here to help.
Which Journey Is Right for You?
There are many reasons to explore reproductive genetic testing.
Select a path that sounds like you for more information.
Yes, You Should
Consider Genetic Testing
Before Pregnancy
Get Equipped with
Genetic Knowledge
During Your Pregnancy
Why Choose
Genome Medical?
Which Journey Is Right for You?
There are many reasons to explore reproductive genetic testing.
Select a path that sounds like you for more information.
Yes, You Should Consider Genetic Testing Before Pregnancy
Get Equipped with Genetic Knowledge During Your Pregnancy
Why Choose Genome Medical?
Testimonials
“Erica Schindewolf was absolutely amazing. She put my mind at ease and advised me in a way that answered all of my questions and made me feel comfortable.”
“Wonderful discussion with Ashley and Anna, both very knowledgeable, professional and prepared for our conversation. Greatly appreciated their help and guidance.”
“I think the type of services provided are superb and quite actionable in a quick matter that showed me they care and they take care of this stuff quickly so we can be informed and get results quickly.”
“I had a really helpful and productive conversation with the genetic counselor. She listened well and set reasonable expectations for what I can expect from my genetic tests. She was great!”
“Every question was answered and everything was explained so very clearly. I was very comfortable with my counselors who were very pleasant and very knowledgeable.”
“Natalie was great at taking the time to share her knowledge and gather important information needed to achieve my goal.”
“Mary Francis Garber was extremely knowledgeable and compassionate. She did an excellent job helping me understand the process and the implications of the testing.”
“Ashley was SO easy to talk to and was very clear and concise on her questions. She made me feel very comfortable and I learned a lot from her!”
“I am grateful for this potentially life-saving opportunity. Specifically, Katelyn Swade was fantastic, knowledgeable, reassuring and answered all of my questions. I will absolutely recommend this to friends and family suffering from similar ailments.”
“Ms. Sheryl Walker was extremely helpful, patient, very knowledgeable. She took the time to make sure I understood what she was telling me and if I didn’t she went into further detail. All the questions I had were answered. She made the counseling end of it easy.”
Testimonials
“Erica Schindewolf was absolutely amazing. She put my mind at ease and advised me in a way that answered all of my questions and made me feel comfortable.”
“Wonderful discussion with Ashley and Anna, both very knowledgeable, professional and prepared for our conversation. Greatly appreciated their help and guidance.”
“I think the type of services provided are superb and quite actionable in a quick matter that showed me they care and they take care of this stuff quickly so we can be informed and get results quickly.”
“I had a really helpful and productive conversation with the genetic counselor. She listened well and set reasonable expectations for what I can expect from my genetic tests. She was great!”
“Every question was answered and everything was explained so very clearly. I was very comfortable with my counselors who were very pleasant and very knowledgeable.”
“Natalie was great at taking the time to share her knowledge and gather important information needed to achieve my goal.”
“Mary Francis Garber was extremely knowledgeable and compassionate. She did an excellent job helping me understand the process and the implications of the testing.”
“Ashley was SO easy to talk to and was very clear and concise on her questions. She made me feel very comfortable and I learned a lot from her!”
“I am grateful for this potentially life-saving opportunity. Specifically, Katelyn Swade was fantastic, knowledgeable, reassuring and answered all of my questions. I will absolutely recommend this to friends and family suffering from similar ailments.”
“Ms. Sheryl Walker was extremely helpful, patient, very knowledgeable. She took the time to make sure I understood what she was telling me and if I didn’t she went into further detail. All the questions I had were answered. She made the counseling end of it easy.”
Frequently Asked Questions
What does preconception genetic testing test for?
There are three preimplantation (preconception) genetic testing (PGT) options.
What’s the same about each option:
- Each requires a patient to undergo in vitro fertilization (IVF), which is a complex series of procedures in which an egg is fertilized by a sperm. This occurs outside of the human body in a specialized laboratory. The fertilized egg then continues to develop into an embryo.
- Testing is conducted around day 5-6 of embryonic development. At this stage, a few cells are removed from a part of the embryo called the trophectoderm. The trophectoderm is made up from cells that would have gone on to form a portion of the placenta. Removing a few of these cells at this very early stage is not harmful and does not impact the ability for the placenta or fetus to continue to develop.
What’s different about each option:
- Preimplantation genetic testing for aneuploidy (PGT-A) is used to assess if an embryo has the correct amount of chromosomal material. If an embryo has extra or missing chromosomal material, there is an increased risk that the embryo will not implant or that a pregnancy will result in miscarriage, stillbirth, or a child with intellectual, physical or functional differences.
- Preimplantation genetic testing or monogenic/single gene conditions (PGT-M) is used to assess if an embryo has inherited a known familial genetic variant.
- Preimplantation genetic testing for chromosomal structural rearrangements (PGT-SR) is used to assess if an embryo has an unbalanced rearrangement of its chromosomes, which causes it to have extra or missing genetic material. Again, this can result in an embryo that is less likely to implant or in a pregnancy that has a higher likelihood to result in miscarriage, stillbirth, or a child with intellectual, physical or functional differences.
How much does preconception genetic testing cost?
The ultimate out of pocket cost of preimplantation genetic testing (PGT) depends on what testing a patient elects to pursue and what that patient’s insurance plan covers. There are three PGT options; each require the use of in vitro fertilization. Therefore, when estimating the total cost of testing, it is important to account for all steps in the process. It is recommended that a patient talk with their insurance company to best understand what will, and will not, be covered and at what percent.
What is carrier screening?
Carrier screening analyzes a person’s DNA to see if they are a carrier for a genetic condition. Carriers of genetic conditions are typically healthy and often do not know they are carriers. If both parents are carriers of the same genetic condition, or in some cases if just the mother is a carrier, then there would be an increased chance for their baby to be affected. Carrier screening can be limited to genetic conditions that are more common based on a person’s ethnicity or can be broader to include conditions affecting a wide array of ethnicities. Although carrier screening can identify individuals at risk to have a child with a genetic condition, it does not screen for all possible genetic conditions and does not assess risks for chromosome conditions, birth defects, or intellectual disabilities. Ideally, carrier screening is conducted prior to pregnancy, but screening can also be done at any time during pregnancy. Screening can be done using a saliva sample, buccal swab or blood sample and can be conducted on one reproductive partner at a time, or both simultaneously.
What types of prenatal genetic testing are available?
The two main types of prenatal genetic testing are tests that detect chromosome conditions, such as Down syndrome, and tests that determine whether someone is a carrier of a genetic condition, such as cystic fibrosis.
Testing for Chromosome Conditions
Testing for chromosome conditions can be done through a screening test or a diagnostic test.
- A screening test is non-invasive, meaning only a maternal blood sample and, in some cases, an ultrasound is required to perform the testing. Though often very accurate, screening tests can have false positives and false negatives. Screening tests for chromosome conditions include first trimester screening, second trimester screening, and non-invasive prenatal testing (also known as NIPT, NIPS, or cell-free DNA screening).
- A diagnostic test involves using a needle to sample part of the placenta or the fluid that surrounds the baby (called amniotic fluid), and diagnostic tests carry a small chance for a pregnancy complication such as infection or pregnancy loss. This chance is typically less than 1%. Diagnostic tests are the most definitive form of prenatal testing available. Diagnostic testing performed in the first trimester is called chorionic villus sampling (CVS) and diagnostic testing in the second trimester is called amniocentesis.
Testing for Carrier Status
Carrier screening analyzes a person’s DNA to see if they are a carrier for a genetic condition. Carriers of genetic conditions are typically healthy and often do not know they are carriers. If both parents are carriers of the same genetic condition, or in some cases if just the mother is a carrier, then there would be an increased chance for their baby to be affected. Carrier screening can be limited to genetic conditions that are more common based on a person’s ethnicity or can be broader to include conditions affecting a wide array of ethnicities. Although carrier screening can identify individuals at risk to have a child with a genetic condition, it does not screen for all possible genetic conditions and does not assess risks for chromosome conditions, birth defects, or intellectual disabilities. Ideally, carrier screening is conducted prior to pregnancy, but screening can also be done at any time during pregnancy. Screening can be done using a saliva sample, buccal swab or blood sample and can be conducted on one reproductive partner at a time, or both simultaneously.
What is first trimester screening?
First trimester screening reports the chance for specific chromosome conditions (Down syndrome, trisomy 18, and sometimes trisomy 13) to be present in a pregnancy. Done between 11 and 13 weeks gestation, the measurement of two pregnancy-related hormones obtained from a maternal blood sample are combined with two ultrasound measurements to calculate these risks. When results indicate an increased risk, additional evaluations such as ultrasounds and diagnostic tests are offered.
What is second trimester screening?
Second trimester screening (also called maternal serum screening) measures levels of biologic chemicals in a pregnant woman’s bloodstream. Using a blood sample drawn between 15-20 weeks of a pregnancy, this screening reports the chance for specific chromosome conditions (Down syndrome and trisomy 18), as well as neural tube defects like spina bifida, to be present in a pregnancy. Results are usually available within a week. When results indicate an increased risk, additional evaluations such as ultrasounds and diagnostic tests are offered.
Should I do prenatal genetic testing?
Prenatal genetic testing is optional and the decision to have this testing should be based on your own beliefs, personality, and needs. Some people want to know if there is an increased chance to have a pregnancy affected with a genetic condition so that they can use that information to plan for the future. Other people want to know because they might not continue a pregnancy if it were found to be affected with a genetic condition. Some people do not want to have prenatal genetic testing because they feel that the results would not change their pregnancy plans and could make them more anxious.
How accurate is prenatal genetic testing?
The accuracy of prenatal genetic testing for chromosome conditions varies depending on the screen or test that was performed.
- For example, first or second trimester screening tests can detect as many as 96% to as few as 64% of pregnancies affected with Down syndrome, depending on the specific test that is performed. Non-invasive prenatal testing/cfDNA testing can detect over 99% of pregnancies affected with Down syndrome. The detection rates for other chromosome conditions are lower because those conditions are more rare.
- False positives can occur. The chance for a positive first or second trimester screening or non-invasive prenatal testing/cfDNA result to be a false positive depends on the specific screen performed, the condition it screened positive for, and other factors such as the maternal age.
- CVS and amniocentesis are the most definitive tests available. While no test can be 100% correct every time, these tests give you as much certainty as possible.
Carrier screening accuracy will depend on the technology used and how common the genetic condition is. Many carrier screening panels can detect over 99% of people who are carriers of the conditions included on the panel.
How is prenatal genetic screening/testing done?
First trimester screening is performed using a maternal blood sample and a first trimester ultrasound called the nuchal translucency (NT). The NT ultrasound involves taking a measurement along the back of the baby’s neck. The NT measurement and the blood sample are used together to determine the results of first trimester screening.
Second trimester screening, non-invasive prenatal testing/cfDNA, and carrier screening are all performed with only a blood sample. Carrier screening can be performed on either biological parent, but all other testing listed here must be performed on the pregnant patient. Carrier screening can also be performed on a saliva sample or buccal swab.
Prenatal diagnostic testing, such as chorionic villus sampling (CVS) and amniocentesis, are considered more invasive testing options. CVS involves using a needle to obtain a sample of the placenta. Amniocentesis involves using a needle to obtain a sample of the fluid that surrounds the baby (called amniotic fluid). Both of these procedures carry a risk to the pregnancy, such as risk of infection or pregnancy loss, but those complications occur less than 1% of the time.
What is maternal serum screening?
Maternal serum screening (also called second trimester screening) measures levels of biologic chemicals in a pregnant woman’s bloodstream. Using a blood sample drawn between 15-20 weeks of a pregnancy, this screening reports the chance for specific chromosome conditions (Down syndrome and trisomy 18), as well as neural tube defects like spina bifida, to be present in a pregnancy. Results are usually available within a week. When results indicate an increased risk, additional evaluations such as ultrasounds and diagnostic tests are offered.
What is NIPT?
Non-invasive prenatal testing (also known as NIPT, NIPS, or cell-free DNA screening) can be performed after 10 weeks in pregnancy and requires a maternal blood sample. It analyzes some of the genetic material (DNA) from the pregnancy that is circulating in the maternal bloodstream to screen for common chromosome conditions, including trisomy 21 (Down syndrome), trisomy 18, and trisomy 13. Sex chromosome conditions and microdeletions can also be included as part of the analysis. When results indicate an increased risk for a chromosome condition, additional evaluations such as diagnostic tests are offered.
How accurate is NIPT for gender?
Non-invasive prenatal testing not only identifies if there is an increased chance for a chromosome condition in the pregnancy, but can also predict, though not with 100% certainity, the baby’s biological sex. Circulating DNA from the baby’s sex chromosomes can also be found in the maternal bloodstream, and can assess whether the baby’s chromosomes are likely to be XX (predicted female) or XY (predicted male). Results from NIPT will accurately predict the baby’s sex in 99 out of 100 pregnancies.
How much does NIPT cost?
Leading experts, such as the American College of Obstetricians and Gynecologists, recommend offering chromosomal screening (which includes NIPT) to all women, regardless of their age or other risk factors. Therefore, many insurance companies are now including coverage for NIPT in their policies. As many insurance companies and policies differ, it is important to contact your insurance company to determine your specific coverage and out-of-pocket costs. Also, many laboratories that offer NIPT can perform an investigation of your insurance coverage and work with you on any possible costs.
Frequently
Asked Questions
What does preconception genetic testing test for?
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How much does preconception genetic testing cost?
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What is carrier testing?
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What does preconception genetic testing test for?
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How much does preconception genetic testing cost?
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What is carrier testing?
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What types of prenatal genetic testing are available?
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What is first trimester genetic screening?
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What does the second trimester screening test for?
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Should I do prenatal genetic testing?
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How accurate is prenatal genetic testing?
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How is prenatal genetic testing done?
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What is the maternal serum screening test?
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What is NIPT?
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How much does NIPT cost? How accurate is NIPT for gender?
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