Prenatal Screening for Tay-Sachs Disease

Did you know that inherited genetic disorders can be detected before a baby is born? One genetic disorder that frightens parents is Tay-Sachs disease. Often, parents do not know what to expect or how to determine if their baby will inherit Tay-Sachs disease. However, prenatal screening and tests make it possible for parents to pinpoint indicators of genetic disorder inheritance and the probability of carrying and passing the genetic conditions. This includes Tay-Sachs disease. 

Do you know what the prenatal tests for Tay-Sachs disease involve? Or how to verify if you are a carrier of Tay-Sachs disease? This article is a need-to-know guide to help you understand and prepare for prenatal screening for Tay-Sachs disease!

A brief overview of Tay-Sachs disease

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Tay-Sachs is a central nervous system disease most often found in infants. Sadly, the condition is progressive and is always fatal. Teens and adults can also have Tay-Sachs, though their symptoms are less severe. Tay-Sachs results from not having enough of the hexosaminidase A (Hex-A) enzyme. When not enough Hex-A, lipid (fatty substance) builds up, resulting in irreparable damage to the brain and spinal cord. Symptoms usually do not appear until ages 3 to 6 months of age, and individuals have a life expectancy of 4 to 5 years.

Symptoms of infantile Tay-Sachs include: 

• Hearing and vision loss
• Decreased motor skills
• Slow growth
• Muscle twitching and weakness
• Increased startle response
• Seizures
• Paralysis
• Difficulty swallowing
• Intellectual disability

Juvenile Tay-Sachs is less common, beginning in ages 2 to 5, with a life expectancy of around 15 years. Infantile and juvenile symptoms are similar. However, juvenile Tay-Sachs include decreased responsiveness and ataxia (uncoordinated movement). Adolescents and adults with Tay-Sachs can have tremors, slurred speech, atrophy, dementia, or psychiatric conditions.

What does the test involve?

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Prenatal genetic testing for Tay-Sachs disease requires testing the baby's cells. Extracting the baby's cells can be done in one of two ways. The methods are chorionic villi sampled (CVS) and amniocentesis. Performed between 10 and 13 weeks of gestation, CVS can be transabdominal (needle takes placenta sample through the abdomen) and transcervical (placenta sample is retrieved via a tube inserted in the cervix). Amniocentesis is performed around 14 to 20 weeks gestation and collects a DNA sample from the amniotic fluid. For this, a needle is inserted into the abdomen. Ultrasound imaging is used with prenatal screening to help ensure the procedure is performed safely and effectively.

How to find out if you're a carrier

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For a child to inherit Tay-Sachs disease, the child must receive one gene causing the disease from each biological parent. A person becomes a carrier when they inherit only one gene. Although anyone can be a carrier, specific backgrounds have an increased risk of Tay-Sachs disease, which include:

• Pennsylvania Dutch
• Cajun
• French Canadian
• Ashkenazi Jewish
• Irish 

Two carrier tests are available: enzyme screening and molecular genetic screening. Enzyme screening is the most preferred carrier screening (as mentioned above). Molecular genetic screening is DNA and chromosome analysis from human DNA extraction (blood draw).

What are the risk factors?

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There are slight associated risks with prenatal screening for Tay-Sachs because the test methods are invasive. CVS holds a 1 in 100 chance of causing miscarriage, and amniocentesis has a miscarriage ratio of 1 in 200. Pregnant persons who undergo Tay-Sachs prenatal genetic testing are likely to experience cramping and discomfort within a few hours after the procedure. There is a slight possibility of inaccurate tests that may require additional testing.

Treatment options for Tay-Sachs disease

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Unfortunately, there is no cure for Tay-Sachs disease, and treatment often does not slow the disease's progression. Therefore, treatment is given as palliative care (reducing symptoms and improving quality of life).

Palliative care includes:

• Physical therapy
• Nutritional support
• Pain medication
• Respiratory treatment
• Anti-epileptic medicines to control seizures

Research has found beneficial results in animal subjects regarding therapies for enzyme replacement, enzyme-enhancing, substrate reduction, and gene therapy. Though, more research is needed to identify an effective treatment for humans. However, neural stem cells (NSCs) serve as a cell-based model to evaluate and examine the disease's gene therapy and medicinal treatment. Further research in NSCs and Tay-Sachs disease cells will help assess drug efficacy.

Medical professionals believe treatment for Tay-Sachs should be extended to the family due to the nature of the disease. It is highly recommended that affected families contact patient advocacy and support organizations for services like the following:

• Lists of specialists or specialty centers
• Financial and travel resources
• Easy-to-read information
• Communicate and connect with similar families
• Emotional support

Bank your stem cells with Anja Health

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The possibility of passing a genetic disorder to your baby can be terrifying. Unfortunately, Tay-Sachs disease is a fatal, genetically inherited disease that many biological parents do not realize they carry. If you or your partner are pregnant, it may be beneficial to get prenatal screening done. 

A proactive decision to help your baby with Tay-Sachs or other genetic disorders is to bank your stem cells. Stem cell therapy provides a range of research and treatment benefits. Let's prepare for whatever the future may hold for your baby's health! Contact Anja Health to start banking your stem cells through cord blood banking.