Close Alert Banner
Skip to Content
Visit BORNOntario.caVisit BORN.ca
COVID-19: Information for PregnancyContact Us
FR

BORN Ontario Logo

Contact Us icon
  • What is Prenatal Screening?
    • What Do We Screen For?
    • Multiple Marker Screening (MMS)
    • Non-Invasive Prenatal Testing
    • Nuchal Translucency Ultrasound
    • Other Kinds of Screening
    • Less than 14 Weeks' Pregnant
    • 14-21 Weeks' Pregnant
    • Greater than 21 Weeks' Pregnant
    • For Twins or More Than Two Babies
    • COVID-19 and Prenatal Screening
  • Results and Next Steps
    • Multiple Marker Screening (MMS) Results
    • Non-invasive Prenatal Testing (NIPT) Results
    • Invasive Diagnostic Testing
  • Requisitions and Provider Tools
    • Multiple Marker Screening (MMS) Requisitions
    • Non-invasive Prenatal Testing (NIPT) Requisitions
    • Provider Tools
    • Facilities that offer Nuchal Translucency ultrasound
  • For Sonographers
    • NT Quality Assurance
    • Resources and Point of Care Tools
    • Facilities that offer Nuchal Translucency ultrasound
  • About Us
    • Contact Us
    • Careers
    • Events Calendar
    • Get Involved
    • Partners
    • PSO News
    • Subscribe to PSO updates
HomeRequisitions and Provider ToolsProvider Tools
  • Open new window to share this page via Facebook Facebook
  • Open new window to share this page via LinkedIn LinkedIn
  • Open new window to share this page via Twitter Twitter
  • Email this page Email

Provider Tools

Point of Care Tools

  • Are you looking for ways to start the conversation with your patient about prenatal screening?

  • Are there questions that you can ask to help support an informed decision?

  • What are the next steps when your patient receives a positive result?

Our point of care tools were created to help inform the conversation about prenatal screening and to support primary care providers and patients through these decisions.

Patient Leaflets

  • Prenatal Genetic Screening in Ontario 

Counselling Tips for Providers

  • How to Offer Prenatal Screening
  • How To Discuss Prenatal Screening Results - Traditional Screening (eFTS/MSS)
  • How To Discuss Prenatal Screening Results - Non-invasive Prenatal Testing (NIPT)

Other Provider Tools

arrow drawn in the sand
Prenatal Screening Pathway
alarm clock
Prenatal Testing Timeline
data on laptop screen
Slide Deck on Prenatal Screening

We continue to develop additional patient and provider tools. Please continue to check our site for updated and newly created resources.

Are you are looking for further tips and information on how to counsel positive or negative screen results? Or more information on what to offer your prenatal patients?  Our genetic counsellors can be reached Mon-Fri 8am-4pm at (833)351-6490 or pso@bornontario.ca

Prenatal Screening Performance

Ontario performance data for eFTS and MSS

 Chromosome DifferenceeFTS % (95% CI)MSS (1 in 200)% (95% CI)MSS (1 in 350)% (95% CI)

Sensitivity 

(Detection Rate)

Trisomy 21

88.82

(84.98, 91.97)

80.56

(63.98, 91.81)

92.31

(74.87, 99.05)

Sensitivity 

(Detection Rate)

Trisomy 18

78.22

(68.90, 85.82)

60.00

(14.66, 94.73)

66.67

(9.43, 99.16)

False Positive Rate Trisomy 21

6.65

(6.51, 6.79)

5.08

(4.74, 5.42)

7.75

(7.32, 8.20)

False Positive Rate  Trisomy 18

0.23

(0.21, 0.26)

0.50

(0.40, 0.62)

0.92

(0.77, 1.09)

Notes

  1. Singleton pregnancies with an EDD of 01-Sep-2016 to 31-Mar-2019 were include to calculate the screening performance.
  2. "eFTS" includes both 4-marker and 5-marker eFTS.
  3. MSS performance was calculated using the standard screening cut-off of 1 in 200, as well as the 1:350 cut-off that was implemented in response to the COVID-19 pandemic.
  4. Uninterpretable, inconclusive, mosaic and partial cytogenetic results were excluded from this cohort.
  5. Outcome data for autosomes screened (chromosomes 21 and 18) were supplemented using data from the BORN information system (BIS) for negative results only, where the outcomes for pregnancies with no cytogenetic outcome were set to test-negative when their corresponding BIS record had no indication for the disorder during the perinatal period.

Ontario performance data for NIPT

 Chromosome DifferenceSensitivity (Detection Rate)% (95% CI)False Positive Rate% (95% CI)Positive Predictive Value % (95% CI)
Trisomy 21

99.80

(98.97, 99.99)

0.11

(0.08, 0.16)

93.33

(90.85, 95.31)

Trisomy 18

94.92

(89.26, 98.11)

0.04

(0.02, 0.07)

90.32

(83.71, 94.90)

Trisomy 13

88.24

(72.55, 96.70)

0.04

(0.02, 0.07)

68.18

(52.42, 81.39)

Notes 

  1. Singleton pregnancies with an EDD of 01-Sep-2016 to 31-Mar-2019 were include to calculate the screening performance.
  2. No-call and missing data screening results were excluded from this analysis.
  3. Uninterpretable, inconclusive, mosaic and partial cytogenetic results were excluded from this cohort.
  4. Outcome data for autosomes screened (chromosomes 21, 18, and 13) were supplemented using data from the BORN information system (BIS) for negative results only, where the outcomes for pregnancies with no cytogenetic outcome were set to test-negative when their corresponding BIS record had no indication for the disorder during the perinatal period. 
  5. Positive predictive value: probability that subjects with a "high risk" screening result have the chromosome difference. A "high risk" result in a high risk population (e.g. screen positive eFTS, ultrasound abnormalities) is more likely to be a true result than a "high risk" screening result in a low risk population.

When to Consider Referral to a Genetics Centre

Circumstances when you may consider referring your patient to a regional genetics centre that offers prenatal care include:
  • NT measurement is increased (3.5 mm or above)
  • NIPT result is “high risk”, the NIPT fails or there is an unusual NIPT result
  • Ultrasound anomalies or certain soft signs
  • Personal or family history of genetic conditions, intellectual disabilities or birth defects which may impact the pregnancy
  • Recurrent miscarriages
  • Pregnant individual is considering invasive testing

Genetic clinics vary in their referral criteria. You may consider contacting your local genetics centre to obtain more centre-specific guidance.

Additional Resources

MedlinePlus

Genetic Conditions

The Society of Obstetricians and Gynecologists of Canada

Practice guidelines

Genetics Education Canada-Knowledge Organization

Guide to understanding prenatal tests

Centre for Effective Practice

Primary care resources for your practice

Canadian Association of Genetic Counsellors

List of contact and referral information for Canadian genetic clinics

Best Start/Health Nexus

The Best Start Resource Centre supports service providers who work in preconception health, prenatal health and early child development

Down Syndrome Association of Ontario

DSAO is a charitable, non-profit organization composed of local Down syndrome associations from across the province of Ontario

Canadian Down Syndrome Society

More information about Down syndrome with links to local parent support groups on the Canadian Down Syndrome Society website.

S.O.F.T. Support Organization for Trisomy 13, 13 and Related Disorders

Trisomy Website

Spina Bifida and Hydrocephalus Association of Canada

Spina Bifida and Hydrocephalus Association of Canada website

Pregnancy and Infant Loss (PAIL) Network

The Pregnancy and Infant Loss Network provides support to families across Ontario who experienced the loss of a pregnancy or infant. 

  • Requisitions and Provider Tools
    • Multiple Marker Screening (MMS) Requisitions
    • Non-invasive Prenatal Testing (NIPT) Requisitions
    • Provider Tools
    • Facilities that offer Nuchal Translucency ultrasound

Contact Us

Subscribe to this page

Prenatal Screening Ontario logo

BORN Ontario logo

Our Website

  • What is Prenatal Screening?
  • Results and Next Steps
  • Requisitions and Provider Tools
  • For Sonographers
  • About Us

Helpful Links

  • Contact Us
  • Sitemap
  • Website Feedback
  • View our Facebook Page
  • View our Twitter Page

Contact Us

Prenatal Screening Ontario 
CHEO Research Institute 
Centre for Practice-Changing Research Building 
401 Smyth Road 
Ottawa, ON K1H 8L1

Phone 613-737-2281

Toll Free 1-833-351-6490

Monday to Friday, 8:00 AM to 4:00 PM

Copyright © 2019 BORN Ontario

Designed by eSolutionsGroup

Close Old Browser Notification
Browser Compatibility Notification
It appears you are trying to access this site using an outdated browser. As a result, parts of the site may not function properly for you. We recommend updating your browser to its most recent version at your earliest convenience.