Genetic Screening:
It is possible to screen for some of the more common genetic conditions that can affect the developing fetus. These conditions affect the number of chromosomes in the cells which can have a diverse array of effects on the development and health of the fetus. The screening tests available are most accurate for detecting Trisomy 21 (commonly known as Down Syndrome), although they can also detect some of the less common but more serious conditions like Trisomy 18. They can also detect genetic conditions involving the number of sex chromosomes. The risk of having a pregnancy affected by one of these conditions increases with the age of the mother. For example, the risk of having a baby with Trisomy 21 at age 30 is about 1:1000, at age 35 is 1:400 and at age 40 is 1:100.
Genetic screening is available, however it is entirely optional. Some families would choose to terminate the pregnancy if they had an affected fetus, some would like to continue with the pregnancy but would like to know in advance of the birth so they can be prepared with as much information and resources as possible and some families prefer not to know. Perinatal services BC has a lot of detailed and very helpful information to guide you in making this important decision.
http://www.perinatalservicesbc.ca/our-services/screening-programs/prenatal-genetic-screening
There are two main options for genetic screening in BC:
SIPS/IPS:
This test is covered by your MSP/ care card at no additional cost to you. It is a good screening test for Trisomy 21, Trisomy 18 and open neural tube defects. It involves two blood tests: one drawn between 9-13+6 weeks of pregnancy and the second is drawn between 14- 20+6 weeks of pregnancy. You will need a requisition from your doctor to have the test done. The results are available within 10 days after the second blood test. The test analyzes certain protein levels in your blood, which can be either high or low if you have a pregnancy affected by one of the above genetic conditions. If you are 35 years or older, you are also eligible to have a nuchal translucency ultrasound which is performed between 11-13+6 weeks of pregnancy. This ultrasound looks at the thickness of the fetal neck skin. If this area is thicker than normal, it can be an early sign of Trisomy 21, Trisomy 18 or heart problems.
Your SIPS/IPS result will only tell you whether your pregnancy is at low risk or higher risk of having a fetus affected by one of the above conditions. It does not tell you with certainty/ it is not a diagnostic test. If your result is low risk, then you can be reassured and no further testing is indicated. If your SIPS/IPS result is high risk, then you will be offered the Non Invasive Prenatal Screening (NIPT) free of charge. This test will tell you more accurately what your risk is of having an affected fetus. If your NIPT test is also positive/ abnormal, you will be offered an amniocentesis to confirm the diagnosis.
NIPT:
The NIPT is a good screening test for Trisomy 21, 18 and 13 as well as for genetic conditions related to an abnormal number of sex chromosomes. There is also the option to include screening for a number of extremely rare chromosomal structural disorders (extended panel). It can also tell you the sex of your baby if you would like. The NIPT is more accurate than SIPS/IPS. It analyzes the small fragments of fetal DNA that are found in the maternal blood. You will need a requisition from your doctor to have the test done. This test is private pay and the cost is variable depending on whether or not you include the extended panel. Cost ranges from $299-$800. Some extended medical plans or health spending accounts may cover the cost. The NIPT is a single blood test performed after 9 weeks of pregnancy. The results are available in 10-14 days. Even though the NIPT is a very accurate screening test, it is still not considered a diagnostic test and if your NIPT is abnormal you will be offered an amniocentesis to confirm the results.
You can get your NIPT done at one of the hospital outpatient labs
(Harmony/ Dynacare test):
https://www.dynacare.ca/DYN/media/DYN/eng/Whats%20Next/Harmony-Brochure-EN-2017DE20.pdf
Vancouver Coastal Health Locations:
BC Women’s Hospital (4480 Oak Street, Vancouver)
Lions Gate Hospital (231 East 15th Street, North Vancouver)
St Paul’s Hospital Laboratory (1081 Burrard Street, Vancouver)
UBC Hospital Laboratory (2211 Westbrook Mall, Vancouver)
Vancouver General Hospital Outpatient Lab (275 Laurel Street, Vancouver)
Or at any Lifelabs (Panorama test)
https://www.lifelabsgenetics.com/product/non-invasive-prenatal-testing/