When they tell me my result, how will I know what it means?

What if they tell me my screening result is SCREEN NEGATIVE?

• The chance of your baby having Down syndrome, trisomy 18 or open neural defect is LOWER than expected.

  Is a SCREEN NEGATIVE result accurate?

  • There is less than a 1 in 1,000 chance of your baby having Down syndrome that was not identified by the screening test.

    When your baby is born, if he or she does not have any of these conditions, your result was a TRUE NEGATIVE.

What if they tell me my screening result is SCREEN POSITIVE?

• The chance of your baby having Down syndrome, trisomy 18 or open neural tube defect is HIGHER than expected.

  Is a SCREEN POSITIVE result accurate?

  • Most screen positive results turn out to be false, either by diagnostic testing or the birth of a baby who does not have Down syndrome, trisomy 18 or open neural tube defect. This is called a FALSE POSITIVE.

    What if a SCREEN POSITIVE result is not false?

    • About 1 out of 1,000 women will have a TRUE POSITIVE result, which means that after diagnostic testing or birth, the baby does have Down syndrome, trisomy 18 or an open neural tube defect.

Every pregnancy has 2 or 3 chances in 100 (2-3%) of having a condition that is not found by prenatal screening tests. It is important to remember that no test can detect every type of birth defect

If your result is screen positive, you can talk to your health care provider about more testing. Diagnostic testing is necessary to tell if your baby has a condition for sure. If your result is screen positive for a neural tube defect, you may have the option of a detailed ultrasound at 18 to 20 weeks instead of amniocentesis - this will vary depending on where you live. Genetic counsellors are available to discuss your test results. They can help you make a decision about diagnostic testing. They will support your decision no matter what you decide.

If your screening test result is screen positive and testing says the baby has the condition for sure, you will be asked if you want to continue the pregnancy or have an abortion. Genetic counsellors are available to discuss what your results mean and your choices. You don’t have to decide before testing what you would do. Your health care provider will also discuss your choices with you. You may want to discuss this with your partner, friends or family.

Remember that most babies are born healthy.

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