Dr. Maya Barsky, a female infertility specialist answers the question, “What is genetic carrier screening and when is it needed?”
Answer: Preconception genetic carrier screening is a tool that patients have to evaluate if they are carriers for certain genetic disorders. There are many different companies offering these tests often having 200+ genes they are looking for. If a patient is a carrier, then the next step would be to get the partner tested (or see if the donor is a carrier). There is also the option of both tests being done simultaneously. If both are carriers of the same condition, well then there is usually a 25% chance that the child would actually have the disorder. A lot of the disorders are significant and morbid like spinal muscular atrophy or cystic fibrosis and many don’t have a family history as they are recessive. The test can give you knowledge about what you may need to prepare for or help you to decide if you want to do preimplantation genetic testing as part of IVF. It is important to talk to your doctor about this test before ordering it because it doesn’t eliminate the chance completely if you are not found to both be carriers.
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