Q: What does it mean to be a carrier and what future steps can be taken?

If both partners are identified as carriers of the same autosomal recessive condition, the couple has a 25% risk with each pregnancy to have a child affected with that disease. The couple also has a 50% chance with each pregnancy to have a child who is a carrier of the disease, and a 25% chance to have a child who does not inherit a pathogenic variant from either parent and is not a carrier. If a woman is identified as a carrier of an X-linked condition, she has a 50% chance with each pregnancy to pass on the X chromosome with the pathogenic variant and an increased risk to have an affected son or mildly affected daughter. When an at-risk couple is identified, our Clinical Genetic Counselors can provide information and support which may be helpful in making important family planning decisions. Reproductive options that may be offered to you include: chorionic villus sampling (CVS), amniocentesis, in vitro fertilization (IVF) with preimplantation genetic diagnosis (PGD), sperm or egg donation and adoption. For most diseases, being identified as a carrier has no implications on one’s own health. However, for a small number of autosomal recessive conditions and X-linked conditions on this panel, a person identified as a carrier may actually manifest mild symptoms of the disease and/or manifest symptoms at a later stage in life than would be expected in a truly affected individual.
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