Genetic Carrier Screening

Genetic carrier screening looks for healthy carriers of diseases. About 80 percent of babies who have a genetic disease are born into families with no known family history of that condition. While genetic carriers will not develop symptoms, their children are at risk of being affected with certain conditions which could be life-threatening or require ongoing medical care. Most of these diseases are inherited in a recessive way, which means both parents have to be carriers to have an affected child.

Several companies provide genetic carrier screening. One of these is JScreen, a nonprofit screening program affiliated with Emory University that encourages carrier screening in the Jewish population. JScreen's testing panel, however, looks for more than 200 different genetic diseases found in all ethnicities. Fragile X screening for women is also included. You do not have to be Jewish to participate in the JScreen program. Learn more by visiting www.JScreen.org online.

How do I prepare for carrier screening?

Testing is done through in-home saliva collection you complete yourself, or with blood drawn in our clinic.

If you choose to use the saliva kit, you may order it online at www.JScreen.org

Please enter the name of your reproductive endocrinologist and infertility (REI) specialist where asked for your referring care provider when you complete the online order form. That ensures the Emory Reproductive Center (ERC) is notified of your screening results once they are available.

What happens during carrier screening?

If you are using blood for your sample, you will have blood drawn in our clinic, and we will complete any remaining steps needed to obtain the test results.

If you are using a saliva collection kit, it will be sent to you once you’ve filled out the online request form. The kit comes with easy-to-understand instructions that walk you through the steps to collect your saliva. Once you have your sample, you can use the pre-paid envelope that comes with your kit to deliver your saliva to the testing center.

What can I expect after carrier screening?

Your test results should be available within three to four weeks of submitting your sample. JScreen will notify you by email that your test results are ready. You can then schedule a genetic counseling appointment that is done by phone or secure video conferencing. If you prefer in-person counseling, you may schedule an appointment with the genetic counselor.

What are my options if we find out we are both carriers for the same disease?

Couples who are both carriers have a 1 in 4 chance of having an affected baby.

  • Decide to proceed with in vitro fertilization (IVF) with preimplantation genetic testing (PGT) see below.
  • Use donor eggs, donor sperm or a donor embryo to conceive. If the donor carrier screening is normal, then the risk of having a baby with this disease is very low.
  • Conceive naturally, or with non-IVF fertility treatments, but know you are at risk of having an affected child. Once pregnant, you may choose to undergo prenatal genetic testing (amniocentesis or chorionic villous sampling/CVS) to provide more information before birth.

What is Preconception Genetic Testing (PGT)?

PGT is done by testing the embryos during in vitro fertilization (IVF) to identify which of those embryos will or will not be affected. Only unaffected embryos are then transferred to the uterus. It can help carrier couples dramatically lower the risk of having a baby with a specific disease.


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