Genetic Carrier Screening

What Is Genetic Carrier Screening?

A genetic carrier screening is a test that allows us to better understand the chances of you or your partner passing down a genetic disorder to your offspring.

A human being carries 46 chromosomes organized into pairs—23 inherited from the mother and 23 inherited from the father—which are present in nearly every cell in the body. If either you or your partner carry a recessive gene within a pair of chromosomes, your child has a chance of inheriting the trait. Recessive genes are not dominant, meaning a carrier may not present the physical traits associated with that gene.

Carrier screenings are conducted by collecting and analyzing a sample of blood, saliva, or tissue from inside the cheek. If both you and your partner are carriers of a recessive gene for a genetic disorder, your child has a 25% chance of inheriting the gene from both of you and developing the disorder. If only one parent is a carrier, your child will have a 50% chance of becoming a carrier of the disorder.¹

Many hopeful parents-to-be that our fertility specialists treat may not even know they carry these recessive genes. These screenings are performed prior to pregnancy, so we can properly assess your genes and implement the best treatment plan to avoid passing these traits on to your child.

Should I Receive a Carrier Screening?

Genetic carrier screenings are recommended for patients who have mild or no signs and symptoms of genetic disorders or for those with a family history. These patients are considered carriers, and because they experience little to no symptoms of the disorder, they are likely unaware that they have it.

If you or your partner are found to be carriers, our specialists can help you determine next steps. With advanced reproductive technologies, such as IVF with PGT-M, we can screen against embryos that carry genetic abnormalities to drastically reduce the chances of having a healthy pregnancy.