Genetic Testing During Pregnancy

By ⁠Dr. Brandon Colby MD, a medical expert specializing in genetic testing and personalized medicine.

In this section of the Education Center, we’ve been discussing the powerful ability we have to perform genetic testing for diseases. This included learning what is a genetic disease and what specific types of diseases can be detected using genetic testing.

In this article, we’ll discuss a special type of genetic testing called prenatal genetic screening, which is performed during pregnancy on a developing fetus.

This article is for women and men who are expecting a child and would like to learn more about genetic testing while pregnant.

genetic testing during pregnancy

What You Need to Know About Genetic Testing During Pregnancy

Congratulations! You’re about to welcome a brand new person into the world. If you’re like most people, all you want is for your baby to be healthy. This can be one of the scariest things about being pregnant - the unknown. The good news is that genetic testing during pregnancy is an effective way to help ease your mind. 

Different Types of Genetic Testing During Pregnancy

Genetic tests can check babies for the risk of health conditions such as birth defects and neural tube defects while they are in the womb. These tests check the baby’s DNA for genetic disorders. 

It’s also possible to check the mother or father to see if either of them have any genetic mutations that could put the baby at increased risk for a genetic disease. This can happen before conception or during pregnancy, but the ⁠American College of Obstetricians and Gynecologists recommends before conception. 

Prenatal Genetic Screening Tests 

Prenatal screening for rare diseases can identify gene mutations that may be passed on to a baby. If a prenatal test identifies you are a carrier of a disease, genetic counselors often recommend testing the father to see if he is also a carrier.

While someone can suffer from disease by inheriting a single gene, there’s a much higher risk when the person receives two gene mutations for the disease. This is because there are two genes associated with a disease, and if one is mutated, the other can protect the person from the disease by picking up the job of the other one. 

If carrier screening shows an elevated risk for a genetic disease like Tay-Sachs or something else, prenatal care may be recommended to lower the risk for the fetus. 

Learn More: ⁠Carrier Screening

The Benefits of Genetic Tests During Pregnancy

Prenatal genetic testing is a good idea, but just because you’re already pregnant, it doesn’t mean that you can’t seek genetic testing now.

Genetic problems in the way of chromosomal abnormalities can be identified with a DNA test. DNA testing has NO risks. It’s not like amniocentesis in which amniotic fluid is taken or chorionic villus sampling in which a piece of tissue is taken from the placenta. 

DNA tests are just as effective as other riskier chromosome testing. A blood test is not needed because a DNA sample can be collected from saliva or a swab of the cheek. The screening test on the DNA happens in two steps. First, the lab pulls raw data from the DNA. This is the unique information contained in the DNA.

This information is then analyzed in the second step for whatever you’re wanting to know. For instance, it can be analyzed for signs of cystic fibrosis, Down syndrome, trisomy 18, trisomy 13, and other chromosome abnormalities. 

DNA tests can be performed in the first trimester, second trimester, or any of the weeks of pregnancy. The sooner the better though because it will allow sufficient time for healthcare providers to discuss treatment options if needed. 

Choosing the Best DNA Tests for Genetic Conditions

best dna test for genetic conditions

Receiving false results on a genetic screening, such as false-positive or false-negative is not something you want to deal with when it comes to the health of your baby. It’s important to seek a test that will give you true results. CVS is not the best place to purchase a DNA test.

You also do not have to meet with a geneticist or genetic counselor for a genetic test. Effective, high-quality genetic tests are available online, but not all of them are created equal. 

DNA tests many people know about like 23andMe, MyHeritage, and are great for basic health and ancestry information. The data from those tests can be used to identify some potential genetic disorders, but they are not comprehensive enough to provide as much information as you need.

This means if you use that data, it may miss some very important genetic diseases that you should know. has an Ultimate DNA Test that tests more of the human genome but still doesn’t test the entire genome. Again, this means some diseases may be missed in the analysis. The best ⁠genetic testing for genetic diseases is ⁠whole-genome sequencing

Due to advancements in technology, it’s possible to sequence their whole genome. What does that mean? It simply means it’s able to pull out information for tens of thousands of genes. The analysis of those genes is what produces the test results you need genetic testing during pregnancy. 

A ⁠whole-genome sequencing report will show a high risk of certain diseases from a list of over 1200. If the report shows any high-risk screening results, a follow-up with a genetic counselor or healthcare provider should be done. 

For additional information about DNA tests for diseases, read: ⁠What’s the Difference Between Ultimate DNA Test and Whole Genome Sequencing or ⁠How to Choose a DNA Test for Diseases

Please note: Positive results do not mean you or your baby is destined to suffer from the identified disease. It simply means there’s a higher risk. Only diagnostic testing will show whether there is a disease and diagnostic tests will only show positive results following onset. 

Protecting Yourself and Your Baby from Disease

Pregnant women go through a lot during pregnancy - worrying about genetic diseases shouldn’t be something that makes pregnancy a negative one. First-trimester screening is a common practice but there’s more that can be done with ⁠DNA tests. Even those who do not have a family history of genetic diseases should still look into genetic testing during pregnancy.

The information obtained from the test results can be relieving or it can be a proactive way to reduce the risk of your baby suffering from a disorder. 

Learn More: ⁠What Is a Genetic Disease or ⁠What Diseases Can Be Detected Through Genetic Testing

Special Note About Genetic Testing and COVID During Pregnancy

In addition to ⁠genetic testing for diseases, there is also evidence that genetics plays a role in contracting and the severity of COVID. ⁠Coronavirus DNA testing is completely safe during pregnancy, so it’s worth looking into your genetics and how it relates to COVID-19.

The information can help you increase your protection against the virus or let healthcare professionals know if you do contract it.

About The Author

Dr. Brandon Colby MD is a US physician specializing in the personalized prevention of disease through the use of genomic technologies. He’s an expert in genetic testing, genetic analysis, and precision medicine. Dr. Colby is also the Founder of and the author of Outsmart Your Genes.

Dr. Colby holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University’s Graduate School of Business, and a degree in Genetics with Honors from the University of Michigan. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (⁠ACMG), an Associate of the American College of Preventive Medicine (⁠ACPM), and a member of the National Society of Genetic Counselors (⁠NSGC).

© 2023