Prenatal Screening for FAODs

​​ultrasound for prenatal screening

Every parent wants their child to be happy, healthy, and live a long life. While a newborn screening can catch many problems at birth, the earlier the detection the better in order to begin an effective treatment plan to address these issues. This is where prenatal screening can play an important role.

 

What Is a Prenatal Screening?

Prenatal screenings are tests during pregnancy to detect any health problems that the fetus has or that may arise. These tests focus on the health of both the expecting mother as well as the baby. They can be used to discover the presence of genetic defects or birth defects in the unborn baby. In particular, a prenatal screening can alert doctors to various conditions such as sickle cell disease, heart defects, Down syndrome, cystic fibrosis, and even fatty acid oxidation disorders.

 

Prenatal Screening for Fatty Acid Oxidation Disorders

Fatty acid oxidation disorders or FAODs are a group of disorders that involve problems with the body’s ability to metabolize fat. They can range from serious life-threatening conditions to manageable disorders, but the sooner this disorder is found, the sooner a treatment plan can be put in place, and the better chance there is that more serious problems can be avoided later on.

 

Luckily there is a prenatal screening for FAODs to help detect some of these problems before the baby is even born. For example, a CPT2 deficiency can be diagnosed through prenatal screening. Doctors will look at levels of the CPT2 enzyme in cells from amniotic fluid as well as cells obtained from chorionic villus sampling (CVS). Prenatal screening for FAODs can also be used to find the MCAD deficiency. Doctors will once again look at amniotic fluid cells and cells from CVS for abnormalities that match this specific deficiency.

 

Because FAODs are passed on through genetics, many families with fatty acid oxidation disorders in their history should look into getting prenatal screenings for FAODs specifically. When these disorders are diagnosed at such an early stage it is easier to prepare a treatment plan and to reduce the risk of serious health problems that can occur if such a disorder is ignored. It may even save a baby’s life.

 

At INFORM Network, we know that such a diagnosis for your child can be scary, but it doesn’t have to be. With knowledge comes power. If your family has a history of FAODs, then it is important to ask your doctor about prenatal screenings for fatty acid oxidation disorders.