Pregnancy and you blog

Once you get that positive pregnancy test, you’ve got some decisions to make — ranging from what you’ll name the baby to what kind of stroller to get. One decision parents might not think to research prior to those first prenatal visits concerns genetic testing.

The world of genetic testing is ever changing and advancing quickly. Some of the tests you might be offered include:

  • Quad Screen. Typically done between weeks 15 and 20 of pregnancy, the quad screen is a blood test. Results indicate your risk of carrying a baby with certain chromosomal conditions, such as Down syndrome, and neural tube defects.
  • First Trimester Screen. Performed around week 12 of pregnancy, this screening involves an ultrasound and a blood test to gauge your risk of carrying a baby with certain chromosomal conditions.
  • Cell-free DNA screening (cfDNA). Performed after 10 weeks of pregnancy, this blood test analyzes fetal DNA in the maternal bloodstream to determine whether your baby is at risk of certain chromosomal conditions. Gender can also be revealed.
  • Amniocentesis or chorionic villus sampling (CVS). Amniocentesis involves the removal of amniotic fluid from the uterus for testing, while CVS involves the testing of a sample from the placenta. These invasive tests carry a small risk of miscarriage but can diagnose certain conditions.

There are many factors to consider before you choose or decline genetic testing. Some things to think about include:

  • Will the results change your plans to carry out the pregnancy?
  • Will the results make you feel more prepared?
  • How will you cope with waiting for results or if the results indicate your baby has or might have a genetic condition?
  • Are you at high risk due to your age or a family history of conditions?
  • Are the tests covered by your insurance? If not, can you afford them?

This is my take-home message: Everyone wants to get the warm fuzzies that happen when you get negative screening results. But it’s important to think about the possibility of a positive result. I have watched a couple nearly collapse with anxiety after a positive screen, which turned out to be a false alarm upon further testing. The wait for the second set of results, however, was extremely difficult for them. I asked this couple if they would do the same screening in future pregnancies. Not surprisingly, they responded with an emphatic “No!” On the flip side, other couples may handle this situation with relative ease.

Ultimately, there is no one “right” way to handle genetic testing. Educate yourself, consider your personality and think about how you and your partner will deal with the possible results.

Do you have any regrets about genetic screening decisions? Will you do something different in your future pregnancies?

Sept. 18, 2015