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Prenatal Testing for Down Syndrome - What You Need to Know to Make a Decision

Prenatal Testing for Down Syndrome - Decision-making


Updated May 09, 2014

Prenatal tests allows parents-to-be to know if the baby they are carrying has Down syndrome and other disorders. Because there is no cure for Down syndrome, the decision of whether or not to have prenatal testing -- either screening tests or diagnostic tests -- is optional and voluntary. Screening tests include such tests as nuchal translucency testing, maternal serum testing and ultrasound. Diagnostic testing is generally either amniocentesis or chorionic villi sampling. It is up to each set of parents to decide for themselves what tests, if any, they would like to have during a pregnancy. Your doctor can assist you in providing information about your risk to have a baby with Down syndrome and your testing options, but it is up to you to decide if you want testing for Down syndrome in your pregnancy.

The decision whether or not to have prenatal testing for Down syndrome is an intensely personal one. Most discussions about prenatal testing start with a discussion of the two different approaches -- screening tests and diagnostic tests. And while understanding the benefits and risks of these two approaches is important, I think that the discussion needs to start at another point entirely -- what would the results mean to you and what would you do with the information? Based on your answer to these questions, you can decide if you want testing and if so, which approach is better for you.

Before you decide if you want testing during your pregnancy, you need to ask yourself some questions that can be difficult to face during a pregnancy. Most people inherently know that there is a risk for their baby, and any baby, to be born with a birth defect or serious health problem. However, we are able to put this information in the back of our mind and block out this fear as we go through our day to day lives. Considering prenatal testing options during a pregnancy, often brings this hidden fear to the forefront of our minds and it can be scary and anxiety-provoking to think concretely about the possibility that your baby may have a problem. While considering if you want prenatal testing, it is important to remember that most babies are born perfectly health.

Questions to Consider When Deciding about Prenatal Testing

The decision to have prenatal testing during a pregnancy is a personal one. There are a number of different factors to think about when considering prenatal testing and it is up to each person to weigh the importance of these factors. No one can tell you what is right for you. Each parent must weigh the pros and cons of each testing option and decide for themselves what they are comfortable with. Most tests provide parents-to-be with reassurance. However, when a screening test is screen positive, it can be anxiety-provoking. Follow-up diagnostic tests are available, but they have some risks associated with them and it takes some time to get the results, which can be very hard for some parents-to-be. In making a decision about any form of prenatal testing during pregnancy, it is important to consider different questions before making your decision.

Below are some questions that you should consider when you are trying to decide whether or not to have prenatal testing in your pregnancy:
  • Do you need to have any information about whether or not your baby has Down syndrome during your pregnancy?
  • If you are you a ”need-to-know” person -- can you live with an estimate of your risk or do you need to have a definitive answer?
  • How would you react emotionally to screening results? Would you be able to go through the rest of your pregnancy with a little uncertainty, or would you need a definitive answer to keep your anxiety under control?
  • Would you consider diagnostic testing if you had a positive screening tests?
  • Would you be comfortable taking the small but real risk of miscarriage associated with diagnostic testing?
  • What would you do if an abnormality was detected? Down syndrome cannot be cured -- the only options if a fetus is diagnosed during pregnancy is to continue the pregnancy and have a baby with Down syndrome, or end the pregnancy by having an abortion. Is this something you would consider?
  • Would knowing ahead of time that your baby had Down syndrome help you prepare for the birth of a baby with Down syndrome?
  • Would knowing that your baby didn’t have Down syndrome during pregnancy be important to you?

These are some of the tough questions that you should ask yourself before you have any form of prenatal testing -- screening or diagnostic -- during a pregnancy. No one can answer these questions for you, but your answers can help you decide which form of testing, if any, would be the best for you in this pregnancy.


Newberger, D., Down Syndrome: Prenatal Risk Assessment and Diagnosis. American Family Physician. 2001.

American College of Obstetricians and Gynecologists (ACOG). Your Pregnancy and Birth, 4th Edition. ACOG, Washington, DC, 2005.

Stray-Gunderson,Karen. [I[]Babies with Down Syndrome: A New Parents' Guide Woodbine House. 1995

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