Enhanced First Trimester Screening (eFTS)
You can have OHIP-funded enhanced First Trimester Screening (eFTS) in the first trimester of pregnancy. There is no risk to the pregnancy because it is done through ultrasound and blood work. This testing can tell you the chance for having a baby with trisomy 21 (Down syndrome) or trisomy 18 (Edwards syndrome).
How to get eFTS
Talk with your health-care practitioner if you would like to get eFTS. In Ontario, this test can be ordered by:
- doctors (such as family doctors, obstetricians)
- nurse practitioners
- midwives
eFTS can be done from 11 weeks 2 days to 13 weeks 3 days of pregnancy. During this time window, you will first have a special ultrasound called the 11-14 week (nuchal translucency) ultrasound, followed by a blood test.
Who should not have eFTS?
You should not have eFTS if you:
- already have a "low risk" result from Non-Invasive Prenatal Testing (NIPT), or you are waiting for your NIPT results.
- had a "vanishing" twin / co-twin demise. This is a pregnancy that started as twins, but one of the twins was lost.
- are expecting more than one baby (twins, triplets, quadruplets etc).
What does eFTS look for?
eFTS detects most pregnancies with trisomy 21 and trisomy 18. As other screening tests, eFTS cannot detect all pregnancies with these chromosome differences. The ultrasound can give extra information about the baby's health, including some serious birth defects.
How does eFTS work?
This screening test will combine all the information below to tell you about the chance to have a baby with trisomy 21 and trisomy 18:
Your age at the time of birth
You have a higher chance for chromosome differences like trisomy 21 and trisomy 18 as you get older. If you got pregnant through in vitro fertilization, it is the age of the egg that is used. The egg may be your own or from a donor.
11-14 week (nuchal translucency) ultrasound result
The nuchal translucency (NT) refers to the pocket of fluid at the back of the baby's neck. This pocket of fluid is measured during the ultrasound. When there is more fluid than what we typically see, there is an increased chance for trisomy 21, trisomy 18 and other conditions.
Blood draw result
The blood test for eFTS will measure the amount of 3 or 4 chemicals made by your pregnancy.
Other information about you
Your health-care practitioner will ask you some questions about you that improve the accuracy of test. You will be asked about your racial identity, diabetes status, smoking history in the pregnancy, weight and whether the pregnancy happened through in vitro fertilization.
How long does it take to get results?
The results will be shared with your health-care practitioner within approximately 5 working days. Keep in mind that your practitioner may not get the report right away. Talk to your provider about how they plan to give you these results.
What type of results will I get?
When you get your eFTS report, it will most likely say that you have a “screen negative” result. This means that you have a lower chance to have a baby with trisomy 21 and trisomy 18. It does not mean "no chance".
Some individuals will get a “screen positive” result, which means that there is a higher chance to have a baby with trisomy 21 or trisomy 18. It does not mean your baby definitely has one of these chromosome differences. You would have more options for testing, including OHIP-funded NIPT and diagnostic testing.
How does eFTS compare to NIPT?
You might have the option of doing another prenatal screening test, called Non-Invasive Prenatal Testing (NIPT), instead of eFTS. In this section, you will learn how eFTS and NIPT compare to help you make a decision.
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The results presented in this visual are based on the sensitivity and specificity of eFTS and NIPT from actual Ontario pregnancies with an estimated date of delivery between September 2016 and March 2021 that underwent prenatal screening (twins were excluded). The incidence of trisomy 21 in this group was 1 in 394. The figures were applied to this fictitious population of 50,000 people. View more details about the performance of prenatal screening tests. | |||||||||||||||||||||||||||||||||||||||
Accessible version of above visuals (text only) | |||||||||||||||||||||||||||||||||||||||
More about accuracyScreening tests can give false positive or false negative results. False positiveA false positive is when a pregnant individual gets a "screen positive" or "high risk" result but the baby does not actually have trisomy 21. Both screens have false positives. However, there are more false positives through eFTS than NIPT. False negativeA false negative is when a pregnant individual gets a "screen negative" or "low risk" result but the baby actually has trisomy 21 (missed case). Both screens have few false negatives. However, there are more false negatives through eFTS than NIPT. To help you understand the accuracy of eFTS and NIPT, view the type of results that 50,000 people can get if they choose prenatal screening.
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Frequently Asked Questions
I got pregnant through In-Vitro Fertilization and had Preimplantation Genetic Testing (PGT-A) during this process. Can I still have prenatal genetic screening? |
PGT-A involves screening embryos for chromosome differences to help decide which embryos to transfer into the womb. eFTS is not recommended for pregnancies that had PGT-A, since PGT-A is a better screen for trisomy 21, trisomy 18 and other chromosome differences. You can speak to a genetic counsellor about the benefits and limitations of having Non-Invasive Prenatal Testing (NIPT) in your situation. |