![]() Finally, ACOG recommends carrier screening for cystic fibrosis, Canavan disease, familial dysautonomia, and Tay-Sachs disease be offered to all Ashkenazi Jewish individuals. African, Mediterranean, Middle Eastern, Southeast Asian, or West Indian). ACOG recommends screening for certain blood conditions including alpha thalassemia, beta thalassemia, and sickle cell anemia be offered to those at increased risk based on their ancestry (e.g. most cisgender females and transgender men) with a personal or family history of Fragile X-related disorders, intellectual disability, unexplained ovarian insufficiency, or an elevated FSH level before age 40. ACOG recommends carrier screening for Fragile X syndrome be offered to individuals with XX chromosomes (e.g. ACOG recommends carrier screening for cystic fibrosis and spinal muscular atrophy be offered to all individuals who are pregnant or planning to become pregnant. The American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics (ACMG) have published guidelines on genetic carrier screening. Keep in mind: the more conditions you screen for, the more likely it is you will be a carrier for one or more of them. Your ancestry may also play a role in determining which conditions you should be screened for since certain genetic conditions are more common in specific populations. The conditions you are screened for depends on your personal preferences and the advice of your physician. There is not one right answer for everyone. Some screen for only a few conditions, while others screen for hundreds of conditions. There are many options for genetic carrier screening. Common examples of X-linked conditions would be Fragile X syndrome or Duchenne muscular dystrophy. most cisgender males and transgender females) are not typically at risk for having children affected by X-linked conditions, many labs do not screen them for X-linked genes. Since healthy individuals with XY chromosomes (e.g. ![]() Carriers for X-linked conditions who are contributing their eggs have an increased chance to have a child who is affected with that condition. Common examples of autosomal recessive conditions would be cystic fibrosis, spinal muscular atrophy, sickle cell disease, or Tay-Sachs disease. For conditions that are autosomal recessive, both the person contributing the egg and the person contributing the sperm must carry variants in the same gene in order to have a child who is affected with that condition. Genetic carrier screening evaluates for conditions that are inherited in either an autosomal recessive or X-linked manner. Thankfully, most of these variants will never affect our own health or the health of our children. We all carry changes called variants in our genes that can cause genetic conditions. Genetic carrier screening tests a person’s DNA to determine if they are at increased risk to have a child with certain genetic conditions. ![]()
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