Prenatal Screening for Down Syndrome

GMF La Cigogne is dedicated to providing personalized medical care to pregnant women throughout their pregnancy and childbirth. As part of our services, we would like to inform you about prenatal screening for Down syndrome.

It is essential to understand that this screening for Down syndrome is not mandatory and it is important to make an informed decision based on your personal needs and preferences.

As this screening is done early in pregnancy, we invite you to find out about it before your first medical appointment and to check what is covered by your insurance to facilitate the discussion.

During your first visit, we will be able to answer your questions and give you the necessary prescriptions to make your appointments.

Government public testing program

Biochemical test (sensitivity 88%)

  • Blood sampling is done between 10.0 and 13.6 weeks. 

    • At the same time as the first prenatal check-up at the Panama center (bring your prescription).

    • A 2nd trimester screening is available if your pregnancy is more advanced.

  • The result indicates the probability of risk that the fetus is a carrier of Down syndrome. 

    • If the risk is < 1/300 = Low risk.

    • If the risk is ≥ 1/300 = High risk*. 

  • The sensitivity of the blood test (alone) is estimated at 88%.

    • High risk results have access to the fetal DNA test (genomic test) free of charge (see below).

       
    • Sensitivity = the probability that the test is positive if the baby has Down syndrome.

Biochemical test + nuchal translucency (sensitivity 96%)

  • See biochemical test above + 
  • The nuchal translucency ultrasound measures the thickness of the baby’s neck.
    • increases the sensitivity of the test from 88% to 96%. Sensitivity = the probability that the test is positive if the baby has Down syndrome.
    • The ultrasound is done between 11.0 and 13.6 weeks.
    • Not obligatory, but recommended It also makes it possible to detect early the presence of certain congenital malformations or to screen for cardiac anomalies.

You must make an appointment yourself. Here is a non-exhaustive list of places offering nuchal translucency ultrasound

  • free of charge:
    • Notre Dame Hospital in Montreal. 1560 Rue Sherbrooke E. Follow the instructions on the website to make an appointment. IRM Southwest in Mlt. 5515 Rue St-Jacques W. Suite #200.
    • Follow the instructions on the website to make an appointment.
  • with fees:
    • Clinique Ovo Rive-sud, 514-798-2000,clinicovo.com
    • Clinique Prénato, 514-405-320, prenato.ca
    • Imagix Clinic Brossard or Boucherville, imagix.biron.com

 

Non-invasive prenatal screening testing (NIPT) also called fetal DNA

  • 1 single blood sample from 10 weeks of pregnancy.
    • The sensitivity of the blood test is estimated at 99.9%.
    • The sensitivity = the probability that the test is positive if the baby has Down syndrome.
    • No time limit for taking the test .
    • Analyzes the DNA of the placenta as well as the DNA of the fetus found in the mother's blood.
    • It screens for the probability of trisomy 13, 18 or 21. 
  • This test is offered free of charge for high-risk patients: 
    • Pregnant women who will give birth at the age of 40 or over. 
    • Women pregnant with twins
    • History of Down syndrome confirmed by prenatal diagnosis in a previous pregnancy
    • Risk ≥ 1/300 in the Quebec screening program
  • If you are not a high-risk patient, but would like to have access to this test, you can do so through private clinics.  This test could be reimbursed by certain private insurance companies. If you are interested, please inquire with your insurance company before your first appointment.

For more information on prenatal screening for Down syndrome in Quebec:

Private clinic screening

Biochemical test + nuchal translucency

  • Similar to the Québec Prenatal Screening Program
  • Available on the South Shore of Montreal, among others at the Prénato clinic and the Fertilys clinic.
  • Note that the ovo clinic no longer offers this test and only focuses on genomic testing (fetal DNA)

Non-invasive prenatal screening testing (NIPT) also called foetal DNA

  • 1 single blood sample from 10 weeks of pregnancy.
    • The sensitivity of the blood test is estimated at 99.9%. 
    • The sensitivity = the probability that the test is positive if the baby has Down syndrome.
    • No time limit for taking the test.
    • Analyzes the DNA of the placenta as well as the DNA of the fetus found in the mother's blood.
    • It screens for the probability of trisomy 13, 18 or 21. 
  • Cost between $400-500 depending on the options chosen.
  • This test could be reimbursed by certain private insurance companies.
  • If you are interested, please inquire with your insurance company before your first appointment.
  • It is recommended to make an appointment for nuchal translucency also, because it also allows early detection of the presence of certain congenital malformations or the detection of cardiac anomalies. 
  • Here is a non-exhaustive list of clinics offering this test: 
    • Clinque Ovo, Prénato, Biron, Fertilys, ...

To find out more about Down syndrome and screening:

Naître et Grandir : article about Down syndrome symptoms and screaning