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carrier screening

CARRIER SCREENING IN PREGNANCY FOR COMMON GENETIC DISEASES

Everyone has a risk to have a baby with problems. There are a few common disorders that can occur even without a family history and can be tested for today. You can have one simple blood test to determine if you carry the gene (DNA change) that causes the disorders shown below.

 

What is a carrier?

A carrier is a person who has a gene that increases the risk to have children with a genetic disease. People do not know if they are carriers until they have a blood test or an affected child. Some disorders occur only if both parents are carriers and other disorders occur only when the mother is a carrier.

 

What is carrier screening?

Carrier screening involves a blood test from one or both parents to determine if they carry a specific gene that increases the risk that their baby is affected. If you turn out to be at risk, prenatal testing such as amniocentesis or chronic villus sampling (CVS) is available to determine if your unborn baby is affected. All testing is optional and you can choose which disorder(s) to be tested for.

Disease

Cystic Fibrosis (CF)

Spinal Muscular

Atrophy (SMA)

Fragile X Syndrome

Symptoms of Disease

Most common inherited disease in North America.

 

A chronic disorder that primarily involves the respiratory, digestive and reproductive systems. Symptoms include pneumonia, diarrhea, poor growth and infertility. Some people are only mildly affected, but individuals with severe disease may die in childhood. With treatments today, people with CF can live into their 20 and 30’s. CF does not affect intelligence.

 

CPT Code: 81220

Most common cause of inherited infant death.

 

SMA destroys nerve cells hat effect voluntary movement. Infants with SMA have problems breathing, swallowing, controlling their head or neck, and crawling or walking. The most common for of SMA affects infants in the first months of life and can cause death between 2-4 years of age. Less commonly the disease starts later and people can survive into adulthood. SMA does not affect intelligence. There is no cure or treatment.

 

CPT Code: 81401

Most common inherited cause of mental retardation.

 

Fragile X syndrome is a disorder that causes mental retardation, autism, and hyperactivity. It affects primarily boys. Women who are carriers are at risk to have a child with mental retardation.

 

CPT Code: 81243

Inheritance

If both parents are carriers, there is a 1 in 4 (25%) chance to have a child with cystic fibrosis.

If both parents are carriers, there is a 1 in 4 (25%) chance to have a child with SMA.

If a mother is a carrier, there is up to 50% chance to have a child affected with fragile X syndrome.

Carrier Frequency

1 in 25 Caucasians

1 in 46 Hispanics

1 in 65 African Americans

1 in 90 Asian Americans

1 in 41

Occurs in all ethnic backgrounds

1 in 260 females

Occurs in all ethnic backgrounds

NOTE: All testing is optional, for cost and insurance coverage please contact your insurance carrier.