Every one of us is a carrier for approximately 6 changed genes that, if inherited in a double dose, could cause a genetic disorder in our children. These disorders are rare and usually there is no family history, although certain disorders are more common in certain ethnic groups. For most of these conditions, both parents have to be carriers for their children to be at risk (these are called autosomal recessive disorders). Others are inherited from a mother who is a carrier (these are called X-linked disorders) and mainly affect boys. Testing to see if you or your partner are carriers for genetic disorders is your choice, but this is testing that is usually offered to all women who are thinking about becoming pregnant, or who are already pregnant. Expanded carrier screening offers testing for many of the most common genetic disorders.

Anyone who is pregnant or planning a pregnancy can have expanded carrier screening.

Many couples consider having carrier screening before they become pregnant. If they are found to be at risk to have a child with a genetic disorder, they could choose to use invitro fertilization, test the embryos for the disorder, and only transfer embryos predicted to be unaffected. If a woman is already pregnant, she and her partner can have expanded carrier screening at any time. Most couples are found to be at decreased risk to have a child with a serious genetic disorder. Couples who are at increased risk have the opportunity to learn about the condition and plan the care of the pregnancy.

It can help you and your partner learn about the chance to have a child with a genetic disease before or during pregnancy. Many people do not know they are a carrier for an inherited genetic disease until they have an affected child. While there is no test that can screen for all possible genetic diseases or birth defects, genetic carrier screening can give you information to make reproductive choices that are right for you and your family.

It is important to tell your healthcare provider about your family history. They may suggest you meet with a genetic counselor to review your history and discuss options for further testing. A Horizon carrier screen may be suggested as one way to see if your family history is a risk factor for your children.

If you and your partner are both carriers for the same recessive genetic disease, you have a 1 in 4, or 25%, chance of having an affected child in each pregnancy. If a woman is a carrier of an X-linked disease, she has up to a 50% chance of having an affected child in each pregnancy.

We offer a complementary telephone consultation by certified genetic counselors. Please or email us to schedule an appointment.

The Expanded Carrier Screen tests for XXX inherited conditions, including cystic fibrosis, fragile X syndrome, and spinal muscular atrophy. To view a full list of the conditions this test screens for, please see the Expanded Carrier Screen page on our website.

Your Expanded Carrier Screen results will be ready in approximately 4 weeks.