We can now screen for over 500 different types of [disorders] depending on the company or test you are using, says Dr. Keegan. This gives us the opportunity to prevent the transmission of inherited genetic disorders through the technology available and a simple blood test.

The ACOG recommends considering family history and ethnicity, in addition to the most common genetic conditions, when deciding which mutations to include. Parents may also benefit from genetic counseling, which is 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 almost 40,000 children and adults living with cystic fibrosis in the U.S. Cystic fibrosis is a disease that affects the lungs, pancreas and other organs. People who have cystic fibrosis have difficulties breathing. The mutation involved with cystic fibrosis causes a protein to not function correctly, which then causes mucus buildup in multiple organs throughout the body.

About 1 in 7,000 males and about 1 in 11,000 females have fragile X syndrome, the most common cause of inherited intellectual disability. Fragile X is associated with lower than average IQ, developmental delays and other co-occurring health conditions including seizures, autism, hyperactivity, attention difficulties and more.

One in every 6,000 babies is born with spinal muscular atrophy, or SMA, which is a group of genetic disorders that cause a weakening of the muscles. Symptoms may vary, but people with SMA may require physical and occupational therapy, support devices such as wheelchairs or assistance with breathing. Symptoms generally worsen over time and there is no cure.

Although anyone can be a carrier, Tay-Sachs disease is more common for people of Ashkenazi Jewish ancestry, as one in every 27 members of the population is a carrier for the disease. Symptoms may include deafness, blindness, seizures, decreased muscle tone, dementia and others.

It is estimated that approximately 100,000 people in the U.S. have sickle cell disease. This inherited condition is most common in Black or African American people but can affect any race. Sickle cell disease includes a group of red blood cell disorders that can cause acute chest syndrome, anemia, blood clots or infections.

Go here to see the original:
Genetic Testing Before Pregnancy: What You Need To Know - Forbes