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Prenatal Genetic Testing in Bethesda, MD

What is Prenatal Genetic Testing?

Prenatal genetic testing looks for changes in the DNA of the fetus during a pregnancy using a combination of screening or diagnostic tests. Prenatal genetic testing can help evaluate the risks and health of the unborn baby.

Before a baby is born, it is a fetus. As the fetus grows, we are committed to the health and wellbeing of the fetus during pregnancy.

Genetic testing is optional, but it can help families and healthcare providers make better decisions moving forward. 

What Does Prenatal Genetic Testing Discover?

Genetic testing looks for changes, sometimes called mutations or variants, in the fetus’s DNA. Genetic testing is useful and may change the medical care you or your family member receives. Some genetic illnesses can run in families.

For example, genetic testing may uncover:

  • Down syndrome – result from having an extra copy or part of a copy of chromosome 21 which results in a wide range of physical delays
  • Trisomy 13 – typically fatal genetic disorder that affects how your child develops, which could cause physical growth abnormalities like a cleft palate, extra fingers or toes, low muscle tone and a small head
  • Trisomy 18 or Edwards syndrome – associated with fatal abnormalities in many parts of the body with slow growth before birth
  • Spina bifida -A birth defect in which a developing baby’s spinal cord fails to develop properly
  • Cystic fibrosis – A genetic disease that affects the lungs, pancreas, and other organs

There are many other conditions that genetic testing may uncover, but these are some of the more common genetic mutations that may occur.

Although birth defects affect 1 in every 33 babies born in the United States each year, less than 0.5 percent of babies have a chromosomal disorder.

What Causes Genetic Disorders?

Genetic disorders are caused for a number of reasons including:
  • Missing chromosomes
  • Extra chromosomes
  • Inherited disorders are caused by changes in genes called mutations and in most cases, both parents must carry the same gene to have an affected child
Genetic disorders may or may not have something to do with the DNA of the parents. In the case of missing or extra chromosomes, there is no reason to assume responsibility for the abnormalities that may be found during genetic testing. It is vital to not assume guilt or excessive ownership as a result from the findings.

Types of Prenatal Genetic Testing

If you are considering prenatal genetic testing, there are two main types of tests.

First, screening tests. This is to see whether the fetus is more or less likely to have certain birth defects, many of which are genetic disorders.These tests can’t make a definite diagnosis.

The second type of test is the diagnostic tests that is the only way to be sure of a diagnosis.

When Does Testing Occur?

As you meet with your provider, you will evaluate your pregnancy and discuss the health and well-being of your future baby.

If you are interested in genetic screening, your provider will discuss the best timeline to perform these tests, in addition to your regular check-ups.

Most tests are very straightforward and can be done with a simple blood test or ultrasound.

  • First trimester screening tests are preformed before 12 weeks and may include:
    • A simple blood test
    • Cell-free DNA screening blood test around 10 weeks to see specific chromosome problems
    • An ultrasound to measure the size of the clear space in the tissue at the back of the baby’s neck to see early signs of Down syndrome
    • Chorionic villus sampling and amniocentesis to take a sample of the placenta
  • Second trimester screening tests are performed between 13-26 weeks and may include:
    • Blood test called the quad screen measuring four substances in your blood that can detect Down syndrome or serious abnormalities
    • More extensive ultrasound imaging

Is Prenatal Genetic Testing Right for You?

As you decide if prenatal genetic testing is right for you consider:

  • The accuracy of tests
  • An increased risk of anxiety
  • How it will shape your prenatal care
  • If you desire to find out more

The decision to pursue prenatal testing is up to you. If you’re concerned about prenatal testing, discuss the risks and benefits with your health care provider. You might also meet with a genetic counselor for help choosing a test and understanding the results.

Taking the time to evaluate your options will help you make the best decision for you and your family.

Contact Us

We take a compassionate approach to prenatal genetic testing and put your desires first. We use accurate screening to help avoid false results. Our providers are highly trained to look for abnormalities and to find issues early, to help ensure the best health for the mother and the fetus throughout development.

Give us a call at (301) 897-9817 to find out more about genetic screening.