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Slideshow: The illustrated guide to genetic carrier screening
What if you could learn about your future child’s health before they were even born — or before you were even pregnant? Carrier screening looks at your and your partner’s DNA to do just that!
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No matter what dreams you have for your family’s future, one thing is certain: you’re hoping for a happy and healthy little one. What if you could learn about your future child’s health before they were even born — or before you were even pregnant?
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That’s where genetic carrier screening comes in. Carrier screening analyzes your DNA, as well as your partner’s, to determine whether you may be at an increased risk of having a child with a genetic disease. Before you learn more, let’s review some basic genetics. Haven’t thought about genetics since high school? Don’t worry, no advanced degrees are required here.
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You receive half of your DNA from your mother and half from your father, giving you two copies of most of your genes. Genetic disease occurs when someone doesn’t have enough working copies of a gene. Sometimes having one working copy of a gene is enough for you to be perfectly healthy. It’s only when there are no working copies that you are affected with the condition. Conditions like this are called “recessive” and are typically the types of conditions included in carrier screening.
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If someone has a disease-causing change in only one copy of a recessive gene, they are considered a “carrier.” Carriers are typically healthy and exhibit no symptoms of the condition they carry. In fact, everyone is a carrier for something — the average person carries around three to five disease-causing changes.
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If both parents are carriers for the same recessive condition, they have a high risk — 25%—of having a child who is affected by that genetic condition. If the mother is a carrier for a condition on the X chromosome, she has a 50% risk of having a son who is affected by that condition. The conditions included on carrier screens vary dramatically in terms of severity and overall effect on the individual’s quality of life. 80% of children born with genetic disease have no family history of that condition, and this is what makes carrier screening so important.
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Carrier screening can be done prior to or early in pregnancy to determine if either parent is a carrier for particular genetic conditions such as Cystic Fibrosis, Sickle-Cell Disease, Tay-Sachs Disease and more. This information can help you make informed decisions as you move forward with preparing to have a child.
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For example, if a couple is not yet pregnant and the disease in question is serious, they may consider PGD, or preimplantation genetic diagnosis. This is a procedure performed alongside IVF to identify embryos not affected with the condition the parents carry. This can greatly reduce the risk of having an affected child.
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From there, you can set up an appointment with a specially-trained, board-certified CooperGenomics genetic counselor to review your results and discuss your family and medical history. During your consultation, you’ll be able to discuss options and next steps for whatever stage of family planning you are in.
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Providing options and information is what carrier screening is all about—empowering you to make informed choices during your reproductive decision-making process. Tap below for more information about CarrierMap screening, prenatal testing, and more.
This ad is brought to you by CooperGenomics