Genetic Testing Options

OPTION 1: ENHANCED FIRST TRIMESTER SCREENING (eFTS)

The eFTS test is covered under OHIP and specifically tests for Down Syndrome (Trisomy 21) and Edwards’ Syndrome (Trisomy 18). It also tests for certain hormones which can assess placental function. It involves an ultrasound and blood work around 12 weeks’ gestation. The ultrasound result will be available to your midwife within a few days after it is done. The blood work result is available to your midwife about 1-2 weeks after it is drawn. This is only a screening test. It is not diagnostic. This means it will not tell you 100% that your baby has Down Syndrome or Edwards’ Syndrome.

ACCURACY OF THE eFTS RESULTS

1. False Positive (eFTS result is positive but the baby does not have Down Syndrome)→6.3%
2. True Positive (eFTS result is positive and the baby has Down Syndrome) →0.2%
3. False Negative (eFTS result is negative but the baby does have Down Syndrome)→< 0.1%
4. True Negative (eFTS result is negative and the baby does not have Down Syndrome) →93.4%

OPTION 2: NON INVASIVE PRENATAL TEST (NIPT)

NIPT is also a genetic screening test that can be performed as early as 10 weeks’ gestation. If you decide to do this test, it would still be recommended to have an ultrasound at 12 weeks to assess the nuchal translucency or fluid in the fold behind the baby’s neck. You can also opt to do both eFTS and NIPT if you want.

NIPT tests for Down Syndrome, Edwards’ Syndrome and Patau Syndrome (Trisomy 13) along with your choice of the following:

➢ Monosomy X
➢ Sex Chromosome Aneuploidy Panel - Turner Syndrome (Monosomy X) and Klinefelter syndrome 22q11.2 Deletion Screening - A condition associated with heart defects, poor immune system function, low calcium levels which can contribute to causing seizures, cleft palate, and delayed development.
➢ Sex of the baby

NIPT is only covered under OHIP if the pregnant person meets certain criteria, for eg:

➢ over age 40
➢ carrying twins
➢ family history of a genetic condition and/or previous pregnancy with Trisomy 21, Trisomy 18 or Trisomy 13
➢ increased thickness in the nuchal translucency on the back of the baby’s neck found on ultrasound
➢ positive eFTS result

If you do not meet any of the above criteria, you can still opt to do the NIPT but will have to pay for it. The cost is about $300.

Accuracy of NIPT in detecting Down Syndrome is more than 99% and produces fewer false positive results compared with eFTS testing, but it is still only a screen. NIPT also is not diagnostic. More information about the NIPT testing options can be found by clicking here.

FOR MORE INFORMATION
More information about genetic screening can be found by clicking here and questions or counseling regarding NIPT can be directed to
1-888-988-1888 ext 80862