Testing Options – Noninvasive Prenatal Testing (NIPT) Insights

Prenatal Testing Options

During pregnancy, you have options to learn more about your baby’s health through different types of testing. Screening tests can show whether your pregnancy is more or less likely to have certain common chromosomal conditions, but they do not give a definite answer and carry no risk of pregnancy loss. Diagnostic tests can provide a clear “yes” or “no” result for most chromosomal conditions, though they come with a small risk of miscarriage or stillbirth.

You can choose between two types of testing

Screening tests

These tests can tell you if your pregnancy is more or less likely to have certain common chromosomal conditions, but it will not give you a definite answer. Screening tests do not have a risk of pregnancy loss (miscarriage or stillbirth).

Diagnostic tests

These tests can provide a “yes” or “no” answer about most chromosomal conditions, but come with a small risk of pregnancy loss (miscarriage or stillbirth).

No test can guarantee a healthy baby

Screening tests give information about the most common chromosomal conditions but not all chromosomal conditions
Diagnostic tests look at all chromosomes and can give information about more chromosomal conditions, most of which are rare
There are many different causes of health conditions and physical differences
These tests do not give information about other health conditions such as autism, learning difficulties, congenital malformations, or other genetic conditions
Other types of tests may be available for some conditions. Speak with your healthcare professional

There may be small risks associated with certain prenatal tests

Screening tests are usually done with a blood sample from a pregnant woman, with or without an ultrasound, and pose no risk of complications to the pregnancy
Diagnostic tests involve sampling from the pregnancy and rarely can lead to pregnancy loss (miscarriage or stillbirth)

What do these tests tell me?

Screening results can help you plan and prepare

A negative screening result means the chance the condition is present is low. This can be reassuring.
A positive screening result means the chance the condition is present is higher. More testing would be needed to confirm whether the condition is actually present.

Screening tests can help you decide if you want to have a diagnostic test

If you have a screening test, you may choose to have a diagnostic test to get more definitive information.
If you have a diagnostic test, you would not need to have additional screening for chromosomal conditions.
Your health specialist may speak to you about more tests that may be available based on your family and/or medical history.

	1st Trimester Screening (FTS)	2nd Trimester Screening	Ultrasound	Chorionic villus sampling (CVS)	Amniocentesis	NIPT
When is it performed?	10-13 weeks	15-22 weeks	Anytime	10-14 weeks	15-20 weeks (can be performed later)	After 10 weeks
How is it performed?	Blood sample from the pregnant woman, often with an ultrasound of the baby’s neck	Blood sample from the pregnant woman	Uses sounds waves to create pictures of the baby	Sample from the placenta	Sample of fluid from around the baby	Blood sample from the pregnant woman
What conditions may be included?	Down syndrome, Edward syndrome, (may include Patau syndrome)	Down syndrome, Edward syndrome, (may include Patau syndrome)	Changes in baby’s growth and development	Chromosomal conditions, other genetic conditions if ordered by your healthcare provider	Chromosomal conditions, other genetic conditions if ordered by your healthcare provider	Down syndrome, Edward syndrome, Patau syndrome
Is there a risk to the pregnancy?	No	No	No	Yes	Yes	No

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