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Genetic Carrier Screening

Arizona Center for Fertility Studies recommends that all patients be tested for genetic carrier screening. All insurance companies cover the test; and if it is not, the most you will have to pay is $99 for COUNSYL and $0 for GoodStart. GoodStart, however, only screens for 23 mutations; whereas, COUNSYL screens for 107 mutations. There are advantages and disadvantages to both. A member of the ACFS medical team will discuss the pros and cons of each test. Below is summary of why ACFS feels genetic carrier screening is important:

An Ultrasound for Your Genes

Genetic carrier screening is like an ultrasound for your genes. Just like an ultrasound allows you to check on your baby during pregnancy, a genetic carrier-screening test empowers you to take a closer look at your genes before pregnancy, to see if there is a chance that your children could inherit a recessive genetic disease.

What Is a Recessive Disease?

Recessive diseases are caused by changes called mutations in a person's genes. You have two copies of each gene: one from your mother and one from your father. Carriers of recessive diseases have one normal copy and one mutated copy, while children affected by these diseases have two mutated copies of a gene.

What Diseases Are Tested?

The genetic carrier-screening screens for recessive genetic disorders like Cystic Fibrosis, SMA (spinal muscular atrophy), Fragile-X syndrome, Tay-Sachs, Sickle Cell Disease and many others. Such conditions can significantly affect your child's normal development and health. For some disorders, treatment may be available, but that is not the case for every disease.

Family History and Genetic Disease

Even if you don't have a family history of any of the diseases included in the genetic carrier-screening test, you may still be a carrier. In fact, the majority of recessive disorders occur in families without a history of genetic disease, and most people do not realize they are carriers until they have a child born with a genetic condition.

What if I Am a Carrier?

While carriers are typically healthy individuals, they may occasionally have mild symptoms. However, it is only when both parents are the carriers of the same genetic disease that they are at risk for having a child affected with that disease. The likelihood that both parents are carriers for the same mutation is around 1%. Because the chance of having an affected child depends on the carrier status of both you and your partner; if you are positive, in most cases, it is strongly recommended that your partner be tested to rule out the possibility that the child may be affected.

What if We Are Both Carriers?

If you and your partner are both found to be carriers of the same genetic disease, your child will usually have a one-in-four chance of having the condition. If this occurs, ACFS will discuss with both of you all the medical options that are available to you.

Risk Reducing, Not Risk Eliminating

Like any carrier-screening test, some carriers will not be detected. So this test reduces, but does not eliminate the chance for recessive genetic disease. Moreover, the test is not intended to diagnose diseases like Down's Syndrome, which is a chromosome abnormal; and although not detected by genetic carrier screening, can be detected by a different test known as pregenetic screening or PGS.

The following tests are available for genetic carrier screening:

 

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