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Genetic Carrier Screening: I’m Healthy So Do I Really Need it?

For couples and individuals with a history of genetic disorders a carrier screening test brings peace of mind. Doctors typically recommend genetic carrier screening if you or your partner are at high risk for passing on certain diseases like Tay-Sachs and cystic fibrosis. Of course, you don’t always know whether you’re a carrier and not every genetic condition has a traceable family history.

Some individuals have random gene mutations they never knew existed, and others may not be familiar enough with their family history to know if they are at risk of passing on a genetic disorder. So, should you get a genetic carrier screening to be on the safe side, even though you’re healthy? And when should you schedule your genetic screening? Before or during pregnancy?

 

What Is Genetic Carrier Screening?

If you’re currently trying to conceive and going through fertility treatment, you’ve probably already compiled a family medical history. Having a medical rundown of your immediate family is useful. However, there are more tools to help you uncover risks your future child has for certain conditions. One of these tools is a genetic carrier screening test.

The genetic carrier screening test is a simple blood draw from you and your partner.  It helps to identify the risk for conditions you and your partner may carry but do not have yourselves. The blood test determines whether your DNA contains a genetic mutation that’s associated with a specific disease. If both you and your partner carry the genetic mutation, your baby has a very high chance of being born with the disease or you are at greater risk for miscarriage.

 

Who Should Be Tested?

Beyond those individuals who have a known family history of genetic disorders, there are people with a predisposition to genetic mutations because of specific diagnosis, ethnicity or race. If you fall into any of the following categories, you should discuss genetic carrier screening with your doctor.

 

  • Ashkenazi Jewish (Eastern and Central European) Descent
  • French-Canadian or Cajun Descent
  • Primary Ovarian Insufficiency
  • Extended Family History of Genetic Disorders
  • African, Central and South American, Middle Eastern, Asian and Indian Descent

 

Expanded Genetic Carrier Screening

Expanded genetic carrier screening is now available for all those who want the test, regardless of their family heritage. It’s a way to rule out a broad array of genetic conditions for those trying to conceive.

But it isn’t necessary to screen couples for every disease out there. In fact, the American College of Obstetricians and Gynecologists (ACOG) advises physicians to screen for conditions that occur in 1 out of 100 people, and greatly reduce or impair cognitive or physical ability, and quality of life, as well as conditions which have an onset in childhood, require surgical or medical intervention.

 

The Most Common Genetic Diseases

Genetic carrier screenings test for genetic conditions that have a 1 in 100 frequency. This means the gene mutation linked to the disease shows up in 1 out of every 100 people. Genetic carrier screening tests for the following conditions:

 

  • Alpha Thalassemia: A blood disorder that causes a reduction in the hemoglobin. Hemoglobin is a protein that exists in red blood cells and carries oxygen throughout the body. Alpha thalassemia causes weakness, anemia and other issues.

 

  • Beta Thalassemia: This is a condition affecting the amount of hemoglobin in the body. It leads to fatigue, blood clots and anemia.

 

  • Cystic Fibrosis: Characterized by excess amounts of mucus which clogs the airways making it difficult to breathe. CF also causes bacteria to become trapped by mucus leading to infections and other pulmonary complications.

 

  • Familial Hyperinsulinism: Also known as congenital hyperinsulinism, this condition causes excess production of the hormone insulin. It leads to low blood sugar, seizures and difficulty breathing.

 

  • Fanconi Anemia Group C: This disorder of the bone marrow causes the body to produce fewer than normal blood cells which led to bleeding, bruising, excessive fatigue and chronic infections.

 

  • Fragile X Syndrome: This genetic disorder inhibits brain development due to a lack of protein in the body.

 

  • Gaucher Disease: A metabolic disorder which causes too many fatty substances to build up in the spleen, liver, lungs and bones interfering with normal function, growth and development.

 

  • Glycogen Storage Disease Type 1A: Glycogen, a type of sugar used for energy, builds up in the body and impairs proper function of the liver, kidneys and small intestine.

 

  • Maple Syrup Urine Disease: Named for the sweet smell associated with a baby’s urine, this disorder prevents the body from processing certain amino acids which causes poor feeding, vomiting and delay in development.

 

  • Niemann-Pick Disease Type A/B: Enlarged liver and spleen inhibit lung development, causing lung damage, growth problems and recurrent lung infections. Type B is less severe than Type A.

 

  • Sickle Cell: Misshapen red blood cells that cause anemia and other conditions associated with the absence of red blood cells.

 

  • Spinal Muscular Atrophy: Also called SMA. this disorder attacks the nerves of the spinal cord causing weakness, trouble with mobility and breathing issues.

 

  • Tay-Sachs disease: Tay-Sachs causes lipids to build up in the brain resulting in mental and physical development problems.

 

We Can Help You Screen for Genetic Mutations

If you are a couple concerned about genetic mutations and would like to discuss genetic carrier screening, contact LA IVF for more information.