If you’re pregnant or looking to become pregnant, genetic screening and diagnostic testing can give you and your doctors insight into your baby’s health. Scroll down to learn what genetic screening and diagnostic testing options exist prior to and during pregnancy. Show
If you’re pregnant or looking to become pregnant, genetic screening and diagnostic testing can give you and your doctors insight into your baby’s health. Scroll down to learn what genetic screening and diagnostic testing options exist prior to and during pregnancy. Preconception genetic testing, also known as carrier screening, is a test that analyzes a person’s DNA to see if they are a carrier for a genetic condition. Carrier screening can be performed on a blood sample, saliva sample, or buccal (cheek) swab. Ideally, carrier screening is conducted prior to pregnancy, but screening can also be done during the first and second trimesters. 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 biological mother is a carrier, then there would be an increased risk for their baby to be affected. Self-Pay We offer an affordable self-pay option for our patients who prefer to pay out-of-pocket. Pay just $179 for a genetic counseling session. Pay just $179START NOW This cost does not include genetic testing. Any genetic testing will need to be paid for separately. Learn more about insurance coverage for genetic counseling and genetic testing. Some common genetic conditions screened for include: Spinal Muscular Atrophy Tay-Sachs disease Sickle cell anemia For those found to be at increased risk to have an affected child, reproductive options such as in vitro fertilization with preimplantation genetic testing, egg/sperm donation, or diagnostic testing during pregnancy are available. 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. More information about carrier screening can be found here: Preconception Genetic Testing Preconception genetic testing, also known as carrier screening, is a test that analyzes a person’s DNA to see if they are a carrier for a genetic condition. Carrier screening can be performed on a blood sample, saliva sample, or buccal (cheek) swab. Ideally, carrier screening is conducted prior to pregnancy, but screening can also be done during the first and second trimesters. 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 biological mother is a carrier, then there would be an increased risk for their baby to be affected. Some common genetic conditions screened for include: Spinal Muscular Atrophy Tay-Sachs disease Sickle cell anemia For those found to be at increased risk to have an affected child, reproductive options such as in vitro fertilization with preimplantation genetic testing, egg/sperm donation, or diagnostic testing during pregnancy are available. 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. More information about carrier screening can be found here: Preconception Genetic Testing Self-Pay We offer an affordable self-pay option for our patients who prefer to pay out-of-pocket. Pay just $179 for a genetic counseling session. Pay just $179START NOW This cost does not include genetic testing. Any genetic testing will need to be paid for separately. Learn more about insurance coverage for genetic counseling and genetic testing. Genetic Testing During PregnancyThere are many genetic screening (GS) and diagnostic testing (DT) options available during pregnancy. Before reviewing these options, important distinctions need to be made:
Learn more about prenatal genetic testing. Genetic Screening During the First TrimesterMany parents pursue genetic screening during the first trimester to gain insight into their baby’s health. Examples of genetic screening available during the first trimester include: Carrier Screening NIPT First Trimester Screening Two genetic screening options span the first and second trimester. These include: Integrated Screening Sequential Screening Genetic Screening During the Second TrimesterIn the second trimester, parents have a few additional genetic screening options that their doctor may offer. Carrier
Screening Second Trimester Screening Alpha-Fetoprotein
(AFP) Test A Targeted (or Detailed) Ultrasound Diagnostic Genetic Testing during PregnancyThe genetic screening options mentioned above will assess if there is an increased or decreased risk for a particular birth defect, genetic condition or chromosome condition. The diagnostic testing options below will provide a definite yes or no answer regarding whether or not a pregnancy is affected with a given condition. Chorionic villi sampling (CVS) Amniocentesis (amnio) Genetic Testing During PregnancyThere are many genetic screening (GS) and diagnostic testing (DT) options available during pregnancy. Before reviewing these options, important distinctions need to be made:
Learn more about prenatal genetic testing. Genetic Screening During the First TrimesterMany parents pursue genetic screening during the first trimester to gain insight into their baby’s health. Examples of genetic screening available during the first trimester include: Carrier Screening NIPT First Trimester
Screening Two genetic screening options span the first and second trimester. These include: Integrated Screening Sequential Screening Genetic Screening During the Second TrimesterIn the second trimester, parents have a few additional genetic screening options that their doctor may offer. Carrier Screening Second Trimester
Screening Alpha-Fetoprotein (AFP) Test A Targeted (or Detailed) Ultrasound Diagnostic Genetic Testing during PregnancyThe genetic screening options mentioned above will assess if there is an increased or decreased risk for a particular birth defect, genetic condition or chromosome condition. The diagnostic testing options below will provide a definite yes or no answer regarding whether or not a pregnancy is affected with a given condition. Chorionic villi sampling (CVS) Amniocentesis (amnio) Frequently Asked Questions How many weeks do you have to be to get genetic screening or diagnostic testing?
Genetic screening and diagnostic testing is available at various times throughout pregnancy. The earliest genetic screening option to assess for certain chromosome conditions is non-invasive prenatal testing (NIPT). NIPT, despite the name, is a screening test. As a screen, it will assess certain factors to determine if a pregnancy is at an increased or decreased risk for a particular genetic or chromosome condition. It will not provide a definitive yes or no answer. This can be done as early as 10 weeks gestation. The earliest diagnostic testing option is chorionic villi sampling (CVS). As a diagnostic test, it will provide a definite yes or no answer regarding whether or not a pregnancy is affected with a given condition.This can be done as early as 11 weeks gestation. Can you find out the gender through genetic testing?Non-invasive prenatal testing (NIPT), despite the name, is a screening test. As a screen, it will assess certain factors to determine if a pregnancy is at an increased or decreased risk for a particular genetic or chromosome condition. It will not provide a definitive yes or no answer. NIPT not only identifies if there is an increased chance for certain chromosome conditions in the pregnancy, but can also predict, though not with 100% certainity, the baby’s biological sex. Results from NIPT will accurately predict the baby’s sex in 99 out of 100 pregnancies. Diagnostic testing (chorionic villi sampling and amniocentesis) is able to identify a baby’s biological sex with >99% accuracy. How much does pregnancy genetic testing cost?The ultimate out of pocket cost of genetic screening or diagnostic testing in pregnancy depends on what testing a patient elects to pursue and what that patient’s insurance plan covers. 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. Learn more about the cost of genetic testing and pregnancy. Who should consider genetic counseling for pregnancy?According to the National Society of Genetic Counselors’ website (www.nsgc.org), individuals are referred to a genetic counselor prior to and during pregnancy for a number of reasons. These may include to discuss:
Learn More about prenatal genetic counseling. Frequently Asked Questions How many weeks do you have to be to get genetic screening or diagnostic testing?Genetic screening and diagnostic testing is available at various times throughout pregnancy. The earliest genetic screening option to assess for certain chromosome conditions is non-invasive prenatal testing (NIPT). NIPT, despite the name, is a screening test. As a screen, it will assess certain factors to determine if a pregnancy is at an increased or decreased risk for a particular genetic or chromosome condition. It will not provide a definitive yes or no answer. This can be done as early as 10 weeks gestation. The earliest diagnostic testing option is chorionic villi sampling (CVS). As a diagnostic test, it will provide a definite yes or no answer regarding whether or not a pregnancy is affected with a given condition.This can be done as early as 11 weeks gestation. Can you find out the gender through genetic testing?Non-invasive prenatal testing (NIPT), despite the name, is a screening test. As a screen, it will assess certain factors to determine if a pregnancy is at an increased or decreased risk for a particular genetic or chromosome condition. It will not provide a definitive yes or no answer. NIPT not only identifies if there is an increased chance for certain chromosome conditions in the pregnancy, but can also predict, though not with 100% certainity, the baby’s biological sex. Results from NIPT will accurately predict the baby’s sex in 99 out of 100 pregnancies. Diagnostic testing (chorionic villi sampling and amniocentesis) is able to identify a baby’s biological sex with >99% accuracy. How much does pregnancy genetic testing cost?The ultimate out of pocket cost of genetic screening or diagnostic testing in pregnancy depends on what testing a patient elects to pursue and what that patient’s insurance plan covers. 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. Learn more about the cost of genetic testing and pregnancy. Who should consider genetic counseling for pregnancy?According to the National Society of Genetic Counselors’ website (www.nsgc.org), individuals are referred to a genetic counselor prior to and during pregnancy for a number of reasons. These may include to discuss:
Learn More about prenatal genetic counseling. Schedule Your Genetic 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 don’t fit into these situations, but wish to be proactive about your health. Speaking to a genetic counselor can help you learn more about this. Self-Pay We offer an affordable self-pay option for our patients who prefer to pay out-of-pocket. Pay just $179 for a genetic counseling session. Pay just $179START NOW This cost does not include genetic testing. Any genetic testing will need to be paid for separately. Learn more about insurance coverage for genetic counseling and genetic testing. 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 don’t fit into these situations, but wish to be proactive about your health. Speaking to a genetic counselor can help you learn more about this. Self-Pay We offer an affordable self-pay option for our patients who prefer to pay out-of-pocket. Pay just $179 for a genetic counseling session. Pay just $179START NOW This cost does not include genetic testing. Any genetic testing will need to be paid for separately. Learn more about insurance coverage for genetic counseling and genetic testing. When is the best time to consider speaking to a genetic expert about my family planning? How do I know which genetic test I should have before or during my pregnancy? Understanding Reproductive Genetics When is the best time to consider speaking to a genetic expert about my family planning? How do I know which genetic test I should have before or during my pregnancy?Understanding Reproductive GeneticsWhat week of pregnancy is genetic testing done?The cell-free DNA in a sample of a woman's blood can be screened for Down syndrome, Patau syndrome (trisomy 13), Edwards syndrome, and problems with the number of sex chromosomes. This test can be done starting at 10 weeks of pregnancy. It takes about 1 week to get the results.
What blood tests are done at 12 weeks pregnant?Chorionic villus sampling (CVS): This test checks cells from the placenta to see if they have a chromosomal abnormality (such as Down syndrome). It can be done from weeks 10 to 13, and can tell for sure if a baby will be born with a specific chromosomal disorder.
Do they always do genetic testing during pregnancy?And many pregnant women assume they will get genetic testing. But you're not required to be screened. Having genetic testing is a choice that's entirely up to you.
What does genetic testing at 12 weeks tell you?Sequential screen: This test uses a mix of ultrasound and blood tests to look for the risk of Down syndrome, trisomy 18, and spine and brain problems. You get it between 10 and 13 weeks of pregnancy. If the results are negative, you can choose to have more testing in your second trimester.
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