5 Things You Need to Know about Cell Free DNA Tests

When you first see that positive pregnancy test many emotions run through your head- joy, excitement, nerves and fear. Any new parent wants to do everything they can to prepare for parenthood and all things baby. For some that may mean reading parenting books, taking classes and getting tests done to make sure everything is in check. 

The barrage of appointments and information can be overwhelming. You probably don’t know where to start, but early decisions come quickly and that includes the cell free DNA test or prenatal genetic testing. 

Cell free DNA tests or prenatal cell free DNA screening is an optional test which can help detect the risk of abnormalities and can supply important information before your baby’s birth. This test must be done in the first trimester, as early as 10 weeks. 

The cell free DNA test requires a blood draw from the mom. DNA fragments from the placenta that are in a pregnant mother’s blood can be used to try to identify pregnancies at higher risk for chromosome abnormalities. The assumption is that placenta DNA is going to match the baby’s.

There is so much different information when it comes to what you need to be doing and not doing. Here are five things that you need to know about the cell free DNA tests.

Why it’s done

Cell free DNA tests are available to anyone who is pregnant. It is not required, but can help with peace of mind when it comes to your pregnancy. The majority of people get the test done to screen for certain chromosomal disorders including:

• Down Syndrome
• Trisomy 18 
• Trisomy 13 
• Fetal sex

This test is the most sensitive screening for Down’s syndrome, trisomy 13 and trisomy 18 (genetic disorders that cause birth defects) and provides some information about the baby’s sex chromosomes. It has a lower false positive rate than the first-trimester screen. 

Although the results can help families make informed decisions, the tests aren’t perfect. Blood-based screen tests cannot say with certainty that a baby is affected

Risks

The number one worry about doing any type of tests is risks! You will be happy to know that cell free DNA tests have no known risks to you and your baby. The biggest thing is that it can cause anxiety, but in the long run it can help avoid other more invasive tests and monitoring throughout your pregnancy. 

Just remember that cell free DNA testing doesn’t screen for everything and negative test results doesn’t ensure that you won’t have an unaffected pregnancy.

If you are feeling like the cell free DNA testing just isn’t enough, there are other full DNA tests that might give you more detailed insights into your pregnancy and your baby. Sequencing.com can give you clear solutions to general health, newborn health, blood disorders, preventable diseases, heart and brain health, children’s health, rare disease and carrier screening and so much more. 

How you prepare

Once you decide that you are interested in cell free DNA testing you will want to look into your insurance coverage and the availability to get the test. After you get everything sorted out, you will meet with a genetic counselor to go over everything that the test will cover and what the possible results could be. 

The genetic counselor is where you will want to ask any questions and express any concerns you or your significant other might be feeling about the test or what the possible results might be. 

Your healthcare provider and the genetic counselor will help you feel as ready as possible.

What You Can Expect

You are probably wondering when you can get the test done. It is recommended that you get the test as early as 10 weeks.

During the screening, a maternal blood sample is taken and sent to the lab. The lab will analyze the maternal and fetal DNA in your blood sample. The procedure doesn’t take long and is pretty painless. If you get queasy from needles or taking blood make sure you discuss this with your healthcare provider and have them give you any suggestions to help you combat any anxieties you might have.

Once the lab has your sample they will analyze the maternal and fetal DNA. If they see a higher than expected ratio of chromosome 21 sequences indicated, for example, an increased risk of trisomy 21 in the fetus. Trisomy 21 is the most common cause of Down syndrome. 

Typically you have to wait 7-10 days to get your test results. 

Results

The majority of people who choose to have prenatal genetic testing do so for a simple reason: knowledge.

The reporting of your results varies depending on the lab. Results might be reported as positive or negative, as high risk or low risk of an abnormality or as a probability.

If the test results indicate that the fetus has an increased risk of a chromosomal abnormality, you might need amniocentesis or CVS to confirm the diagnosis.

Chromosomal abnormalities can’t be corrected. If your baby is diagnosed with a chromosomal abnormality, you’ll need to decide whether to continue with your pregnancy or what steps to take to care for your baby during pregnancy and after he or she is born. Your health care provider or a genetic counselor can help answer any questions you might have.

Cell-free DNA screening can detect more than 99 percent of Down syndrome pregnancies and 97 percent of trisomy 18 pregnancies. It detects about 87 percent of trisomy 13 pregnancies.

Whether or not you decide to get a Cell Free DNA test it is better to be prepared and informed on exactly what will happen and the possibilities of chromosomal abnormalities. This test is perfectly safe and can better help prepare you for parenthood no matter what it will look like.