Pregnancy-Related Genetic Screening in Rockville, MD

Knowing your genetic status before and during pregnancy can help you prepare

Carrier Screening

If you are currently pregnant or thinking about becoming pregnant, carrier screening can help determine whether you, your partner, or donor carry inherited conditions, such as cystic fibrosis, that could affect your family and have a significant impact on how you get pregnant or how and where you deliver.

• Being a carrier is very common. It means that you inherited a normal gene from one parent and a gene with an irregularity, also called a mutation, from the other. As long as you have one normal copy of a gene, you typically don’t have any symptoms, so it’s very rare that someone knows they are a carrier.

• If both parents are carriers for the same condition, there is a 1 in 4 (25%) chance for each pregnancy that their child will have the condition. Some conditions can be caused when only the mother is a carrier, such as fragile X syndrome.

• The conditions included on carrier screening panels are serious conditions most people would want to know about either before conceiving or while pregnant so that they can prepare. These include:
  • Conditions where early treatment can make a difference (such as PKU)
  • Conditions that cause intellectual disability (such as fragile X syndrome)
  • Conditions that shorten lifespan (such as Bloom syndrome)
  • Conditions where there are limited to no treatment options available (such as Tay-Sachs disease)
• A simple blood or saliva sample is all that is needed to test to see if you are a carrier.

Noninvasive Prenatal Screenings (NIPS)

If you are currently pregnant, you can find out through noninvasive prenatal screening (NIPS) if your baby has an increased chance for certain chromosomal conditions, like Down syndrome.

• Normal developmental processes cause small pieces of DNA from a baby’s placenta to enter the mother’s bloodstream. NIPS analyzes these fragments.

Chromosome Conditions Can Have Varying Outcomes

• All that is needed to perform NIPS is a simple blood draw from your arm, causing no increased risk to you or your pregnancy.
• The majority of NIPS results will indicate a low chance for the baby to have any of the conditions screened for. In the unlikely event you get a screen that shows an increased chance for one of the conditions screened for, you will be offered a diagnostic test to confirm or rule out the condition.

Genetic Screens are Like Ultrasounds for DNA

2. Talk With Your Partner

• Genetic screening would impact both you and your partner. Take time to discuss this information together.
• Some questions to consider:
  • Do we have any known genetic conditions in the family that we are concerned about?
  • What if we are both carriers for the same condition?
  • How would having this information help us plan for our family?
  • If anything is identified on screening, how would we share that information with our family?

3. Plan Your Visit

• The decision to pursue genetic screening is a personal choice that should be made between you and your partner. Talk to your provider about any questions you have and how the decision to pursue genetic screening may impact your pregnancy care and management.
• If you are speaking with your provider in person, being prepared with questions helps to limit the amount of time spent face to face.
• Some questions to consider:
  • Should my partner and I have carrier screening at the same time?
  • How would you inform us of our results?
  • What are the next steps if any of the screening comes back positive, showing an increased risk? How is the management of a pregnancy impacted?
  • What does a negative screening result mean?

Request a Genetic Screening Today!

Call (301) 681-9101 to request your pregnancy-related genetic screening at our OBGYN office in Silver Spring or Rockville today!

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