Should I Have Prenatal Genetic Screening Tests?

Should I have prenatal genetic screening tests? This decision is a bit more consequential than deciding to find out the sex of your baby during the ultrasound. Prenatal genetic screening tests are optional and can tell parents whether their child may have certain genetic disorders or birth abnormalities. The answer is up to you.

The Purpose Of Prenatal Genetic Screening Tests

Screening tests do not make a diagnosis. They simply tell parents there may be a higher risk of certain abnormalities. Chromosomes or genes cause genetic disorders. Your doctor can help you interpret the results of a screening test.female doctor talking to patient.

  • You can decide on a carrier screening blood test taken by you and your spouse or partner. This will tell you if there are even tiny changes in your genes that increase the risk of a problem like cystic fibrosis, sickle cell disease or spinal atrophy. If both of you are carriers of the same genetic risk, your child could have a serious form of the disease.
  • You can also decide to have a screening for an abnormal number of chromosomes. A baby inherits 1 chromosome from each parent. Sometimes nature intervenes and 1 chromosome is missing or the child gets more than 2. This can result in Down Syndrome.

If a screening test is abnormal or if risks are high that you will have a baby with a genetic condition, more invasive diagnostic tests may be offered or recommended. This is the only definitive way to be sure of a diagnosis. Unfortunately, some tests carry the risk of miscarriage.

To Know Or Not To Know

That is exactly the question, and each couple may have a different answer and preference. This is a highly personal decision, so you might consider speaking with a genetic counselor for some guidance.

Consider the following:

  • Not all these tests are infallible. You may get a false positive or a false negative result.
  • You may glean some information which can help your doctor plan ahead for treatment immediately after birth or even treat during pregnancy.
  • It may give you and your spouse the opportunity to prepare for all contingencies.
  • Will it make a difference?

Talk with our board-certified OBGYNs in Rockville and Silver Spring, MD if you want more information about prenatal genetic screening tests even before pregnancy or if you want a referral to a genetic counselor. Call us today at (301) 681-9101.

Sources: Common Tests During Pregnancy | Johns Hopkins Medicine

What Happens During Genetic Testing in Pregnancy | Cedars-Sinai

Should You Screen Your Genes Before You Get Pregnant? (

Pros and Cons of Genetic Screening During Pregnancy (