Pre-Pregnancy Carrier Screening for Tay-Sachs Disease

Pre-Pregnancy Carrier Screening for Tay-Sachs Disease : With most pregnancies, obstetricians (OB/GYN) will offer patients prenatal genetic screening to rule out a variety of genetic conditions in utero. This can be an extremely helpful tool for parents as they prepare for their baby. Genetic diseases can often be undetected and might come as a surprise to expectant parents.

One such disorder is called Tay-Sachs Disease. Tay-Sachs is a rare, inherited, neurodegenerative disease that rapidly breaks down nerve cells in the brain and spinal cord, and can be diagnosed through prenatal genetic screening.

Tay-Sachs has three forms:

Infantile: commonly more severe, symptoms typically beginning in the first few months of life.
Juvenile: can range in severity, usually begins showing symptoms around 2-5 years of age.
Late-onset/adult: ranging in severity, can appear in late childhood, early adulthood.

While some people diagnosed with this disease don’t display any symptoms for years, most will develop them later. Infantile cases, while more severe, sometimes don’t display symptoms until 4-6 months of age. These systems include:

loss of motor skills
speech problems
seizures
intellectual disability
paralysis

The symptoms of Tay-Sachs can appear in infancy, adolescence, and adulthood but are often fatal within 3-5 years of diagnosis. It is a rare disorder affecting a very small portion of people. A peculiar factor of this disease is often that families with children diagnosed with Tay-Sachs have no previous history of disease in their family. Most parents with children who have Tay-Sachs carry the HEXA gene, which is directly related to the disease. The HEXA gene creates an enzyme in the Lysosomes, which play an essential role in the brain and spinal cord. The structures within the Lysosomes help eliminate toxic substances and act as recycling centers. Carriers of this gene often show no systems.

Why Carrier Screening Can Make All the Difference

In 2016, only 6% of expecting parents underwent genetic testing. However, many genetic diseases can be caught in utero very early on. Screenings are typically given at ten weeks. A doctor will usually take a sample of blood or saliva and send it off to a lab. The lab will then be able to search for common genetic disorders such as:

Cystic fibrosis
Fragile X syndrome
Sickle cell disease
Tay-Sachs disease
Spinal muscular atrophy

This type of testing serves as a resource that can help prepare, treat, and prevent long-term issues in pregnancy. As a prospective parent, having all of the information you can about your health and the health of your partner can make all the difference.