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Genetic Screening Q&A

You may have heard that the American College of Obstetrics and Gynecology and American College of Medical Genetics recently updated their genetic testing recommendations for women planning a pregnancy.

Based on these recommendations and because evolving technology has made the testing process so easy, Shady Grove Fertility is now recommending that all patients consider taking a genetic test; even those who have already been through a treatment cycle. Continue reading to learn a little more about genetic screening and how SGF and other fertility specialists are using it to help patients find comfort with a simple test.

What is Genetic Screening?

Diagram showing double helix structure of a DNA molecule.

Genetic screening is used to detect recessive genetic disorders within the DNA molecule. These disorders do not affect the parents, but if both parents are carriers, there is a 1 in 4 chance that their child will have the disease. This testing helps identify individuals who may be a carrier of a disease. Physicians also use your medical history, family history, and ethnic backgrounds to evaluate the possibility of diseases that may have been passed down to us through our parents or grandparents.

What are some of the genetic abnormalities that Shady Grove Fertility screens for?

Shady Grove Fertility is now recommending that all patients consider taking a genetic test; even those who have already been through a treatment cycle. The new genetic test is referred to as ‘Counsyl’ by our physicians and staff.

Counsyl screens for the twelve of the more common genetic abnormalities including, cystic fibrosis, spinal muscular atrophy (SMA), fragile X, sickle cell, and Tay-Sachs.

How common is to be a carrier of a disease?

Approximately 1 person in 20 will have a test indicating that they are a carrier. In those cases, the other partner should be tested.

If my partner and are both carriers, what are the chances of our child having the disease?

When both genetic parents are carriers of a recessive disorder, there is a 25% chance that a child will not be affected, a 50% chance the child will be a carrier, and a 25% chance the child will have the disease.

There is a 75% chance your child can be a carrier or affected with a disorder if both you and your partner are carriers.

Why is it necessary to only test one partner?

Initially, only one partner will need to be tested. For recessive disorders to affect a future child, BOTH parents must carry the abnormal gene.

If the partner that is tested comes back with negative test results, that means that they are not a carrier of the tested diseases and they may proceed with treatment. This is the result in approximately 95% of the tests.

If one partner is positive, it means that person is a carrier and we then screen the other prospective parent to see if they are both carriers. In the majority of cases, the second partner tested will not be a carrier and the couple can proceed on to treatment without any further action. There is less than a 1% chance that you and your partner will be the carrier of the same genetic disorder.

In the case of a positive screening, “I always remind my patients that a positive doesn’t mean you have the disease,” says Dr. Eric Widra of Shady Grove Fertility in Washington, DC. “This is just screening, not a diagnosis.”

What happens if both partners are carriers of the same disease?

In that case, it is recommend to proceed with In Vitro Fertilization (IVF) with pre-implantation genetic diagnosis of their embryos, called PGD. Using PGD, we can see if the embryos created are affected with the disease and only transfer unaffected embryos back to the female partner.

How can I get tested?

Counsyl makes getting tested simple and convenient. Using an at-home-test kit you will collect your saliva sample and send it to the lab for processing. Your test results will be available online within 2 to 3 weeks.

Who should I speak with if I have more questions?

Your physician and medical team will be happy to help explain more details of the testing.

What are the SGF physicians saying about the new screening available?

“While we will never be able to prevent all genetic diseases, these new advances are big step in the right direction.”’ says Dr. Widra. “The benefit to patients is an additional level of comfort and confidence as they move forward on the path to parenthood.”

For more information or to schedule a new patient appointment with one of our physicians, please speak with one of our friendly New Patient Liaisons by calling 888-761-1967.

6 Comments

  1. Sherry O'Brien

    April 25, 2012 - 1:51 pm
    Reply

    how do i get my test kit? I was told that you had to register for it on line and they mail it to you home address

    • Shady Grove Fertility

      April 25, 2012 - 7:01 pm
      Reply

      Sherry – You can order the kit online at https://www.counsyl.com/order/.
      Let us know if you have any other questions.

  2. Roy Cameron

    December 22, 2011 - 9:50 pm
    Reply

    I would like to speak with the person that handles the marketing and advertising. I work for WUSA 9(CBS) in the Washington, DC market.

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