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Genetic Carrier Screening

 
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A simple blood test determines if a reproductive couple may be at increased risk of having a child affected with a genetic condition.

If you are planning a pregnancy, genetic carrier screening can provide very useful information to you and your doctor. Even if there is no genetic disorder in your family history, there's a chance that you could still be a carrier of a disorder.

Everybody is at risk — a simple blood test can give you answers.

Future parents can carry many significant inheritable illnesses without even knowing it. It’s not at all obvious whether you’re at risk of having a child with cystic fibrosis, spinal muscular atrophy, sickle cell anemia, thalassemia, or any of the hundreds of illnesses that don’t necessarily run in families. The only way to know is through genetic carrier screening, which is a simple blood test.

 

Genetic carrier screening: How it works

 
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CARE Fertility offers everyone considering fertility treatment an Expanded Carrier Screening with Sema4, which screens for over 280 inherited diseases.

 
 

An easy and enlightening process.

  1. CARE Fertility sends blood to Sema4. We’ll draw blood from both partners and send it off to Sema4 for results, which often takes a couple of weeks.

  2. Female, then male are screened. The female partner is screened first, and if found to be a carrier of any disorder, we recommend screening the male partner to ensure they are not both carriers of the same disease.

  3. Select donor sperm that is negative for the disorder. If the female is positive for any disorder and using a sperm donor, we recommend selecting a donor who is not a carrier of that disorder.

  4. Sema4 phone consultation. Sema4 offers a free phone consultation to discuss the results.

Genetic carrier screening is optional, but strongly recommended.

Genetic testing is always optional, but we believe it's good medical practice to counsel our patients and help them make decisions to improve the safety of the pregnancy. We encourage all of our patients to learn more about genetic carrier screening by watching the above video from Sema4 or visit their website. Your doctor can also help answer any questions you have about genetic testing during your consultations.

The cost is relatively inexpensive, and often covered by insurance.

Genetic carrier screening cost is relatively inexpensive, and it’s often covered by insurance because it's recommended by the American College of Medical Genetics and the American College of Obstetrics and Gynecology. For more information on costs, click here.

We can test and select the healthiest embryos for IVF.

For couples who are undergoing in vitro fertilization and are at risk of having a child that’s affected by a genetic disorder, it’s a simple matter to biopsy the embryos using Preimplantation Genetic Testing (PGT). This will determine which of the embryos would be affected carriers and which are normal before selecting one for your frozen embryo transfer.

Keep reading for more information on testing: