“We can now search for over 500 different types of [disorders] depending on the company or the test used,” says Dr. Keegan. “This gives us the opportunity to prevent the transmission of inherited genetic disorders through available technology and a simple blood test.”
ACOG recommends considering family history and ethnicity in addition to the most common genetic conditions when deciding which mutations to include. Parents can also benefit from genetic counseling, a service that helps people understand the results of their tests and make informed decisions throughout the process.
Here are some of the most common conditions identified through genetic carrier screening:
There are currently nearly 40,000 children and adults living with cystic fibrosis in the United States. Cystic fibrosis is a disease that affects the lungs, pancreas, and other organs. People with cystic fibrosis have trouble breathing. The mutation associated with cystic fibrosis causes a protein to malfunction, which then leads to mucus buildup in multiple organs throughout the body.
Fragile X Syndrome
About 1 in 7,000 men and about 1 in 11,000 women have fragile X syndrome, the most common cause of inherited intellectual disability. Fragile X is associated with below-average IQ, developmental delays, and other co-occurring health conditions such as seizure disorders, autism, hyperactivity, attention deficit disorder, and more.
Spinal Muscular Atrophy (SMA)
One in 6,000 babies is born with Spinal Muscular Atrophy, or SMA, a group of genetic disorders that cause muscles to weaken. Symptoms can vary, but people with SMA may need physical and occupational therapy, assistive devices such as wheelchairs, or breathing assistance. Symptoms generally worsen over time and there is no cure.
Although anyone can be a carrier, Tay-Sachs disease is more common in people of Ashkenazi Jewish descent, with one in every 27 residents of the population being a carrier of the disease. Symptoms can include deafness, blindness, seizures, decreased muscle tone, dementia, and others.
Sickle cell anemia
It is estimated that approximately 100,000 people in the US suffer from sickle cell disease. This inherited condition is most common in black or African American people, but it can affect any race. Sickle cell disease is a group of red blood cell disorders that can cause acute chest syndrome, anemia, blood clots, or infections.