We Assist with Pregnancy-Related Questions

Non-Invasive Prenatal Testing (NIPT) is a blood test that looks at pieces of fetal DNA in the bloodstream to evaluate the probability of certain genetic conditions in the baby.

Traditional prenatal screening methods look at certain hormonal markers in the blood to calculate the probability of Down syndrome or other chromosome conditions in the baby. NIPT looks directly at DNA markers from the baby in the blood and is considered more accurate than traditional screening methods.

Chromosomes carry genetic information that tells our bodies how to grow, develop and function. Humans typically have 23 pairs of chromosomes.

The health and development of a baby may be impacted by having an extra copy or a missing copy of a chromosome, including smaller pieces of chromosomes. For example, having an extra copy of a chromosome is called trisomy. A common example of this is trisomy 21, also known as Down syndrome. Early identification of a chromosome condition may impact pregnancy management or help expectant parents prepare.

The last of our 23 pairs of chromosomes are called the sex chromosomes (X and Y). People with XX chromosomes will typically be born female, and those with XY chromosomes will typically be born male. Sex chromosome aneuploidies occur when someone has an extra or missing copy of the X and/or Y chromosome. Examples of sex chromosome aneuploidies include Turner syndrome (having only one X chromosome) and Klinefelter syndrome (XXY). Sex chromosome aneuploidies are generally less severe than other aneuploidies. In fact, some adults have a sex chromosome aneuploidy without knowing it. The exception is Turner syndrome which can sometimes have more significant impacts on a baby’s health.

Microdeletions and microduplications occur when there are smaller missing or extra pieces of chromosomes. These can have variable, and sometimes very significant, impacts on the developing baby. In general, these can be associated with birth defects and/or developmental delays, but the symptoms depend on which specific microdeletion/duplication is found.

22q11.2 deletion syndrome is a genetic condition caused by a missing piece of chromosome 22. It occurs in about 1 in 1,000 pregnancies.1 The majority of children with 22q11.2 deletion have heart defects, immune system problems, learning challenges, and specific facial features. Some children with this condition also have intellectual disability, feeding problems, speech delays, low calcium levels, kidney problems, and/or seizures. Children with 22q11.2 deletion have an increased chance of autism and may develop psychiatric conditions such as schizophrenia later in life.

¹Grati et al. Prenat Diagn. 2015 Aug;35(8):801-9.

MaterniT^® 21 PLUS screens for the most common chromosome conditions including trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), and trisomy 13 (Patau syndrome). Fetal sex is included in this testing, although you can choose to opt out of getting this information.

• Sex chromosome aneuploidies which include Monosomy X (Turner syndrome); 47,XXY (Klinefelter syndrome); 47,XXX (Triple X Syndrome); 47,XYY (Jacobs Syndrome)
• Extended sequencing series, which includes trisomy 16 and trisomy 22, as well as the following microdeletions:
  • 22q11.2 (DiGeorge syndrome)
  • 5p (Cri-du-chat syndrome)
  • 1p36 deletion syndrome
  • 15q (Prader-Willi syndrome)
  • 15q (Angelman syndrome)
  • 11q (Jacobsen syndrome)
  • 8q (Langer-Giedion syndrome)
  • 4p (Wolf-Hirschhorn syndrome)

MaterniT^® GENOME screens all 23 chromosome pairs. In addition to detecting aneuploidies, such as Down syndrome, it looks for pieces of chromosomes which may be extra or missing. These chromosomal differences can have implications for a baby’s health and development. MaterniT^® GENOME also screens for the microdeletions listed above. This testing does not look for all genetic conditions, however it is the most extensive non-invasive prenatal screening option.

MaterniT21 PLUS and MaterniT GENOME both test for additional chromosomes and microdeletions than Harmony. These tests also use different methodologies than Harmony, allowing them to be used in different clinical cases.

Results are available within 7-10 business days. The results will be sent to ordering healthcare provider. Individuals can also access their results on www.DynacarePlus.com. If you need assistance accessing results online, please call 855.748.1115 or email DynacarePlusCustomerCare@dynacare.ca

If your testing indicates a high-risk result, it does not necessarily mean that the pregnancy has a genetic condition, but it does mean there is an increased chance. Your healthcare provider will speak to you about these results, and will discuss follow-up options, such as diagnostic testing to confirm the results.

MaterniT^® 21 PLUS and MaterniT^® GENOME can be done starting at 9 weeks of pregnancy.

Step 1: Obtain a requisition through one of the following options:

1. Talk to your healthcare provider about the MaterniT test and have them complete a requisition for you. Or,
2. Order the MaterniT test online via Dynacare Plus and bring the requisition to your healthcare provider to sign.

Step 2: Bring your signed requisition to a Dynacare location or an external partner collection site to have your blood drawn.

A blood sample is required for this testing.

There is no fasting or special preparation required for the blood draw.

Please visit www.dynacare.ca/findalocation to find a Dynacare Laboratory or one of our external partner collection sites located near you. Home sample collection services may also be an option. To find out if this service is available in your area or to book your home collection appointment, please contact Dynacare at 888.988.1888 or email DynacareGenetics@Dynacare.ca

The Harmony Prenatal Test screens for the most common chromosome conditions including trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome) and trisomy 13 (Patau syndrome).

• Fetal sex
• Monosomy X (Turner syndrome)
• Sex chromosome aneuploidies which include Monosomy X (Turner syndrome); 47,XXY (Klinefelter syndrome); 47,XXX (Triple X syndrome); and 47,XYY (Jacobs syndrome)
• 22q11.2 deletion syndrome

Results are available within 7 - 10 business days. The results will be sent to the ordering healthcare provider. Individuals can also access their results on www.DynacarePlus.com. If you need assistance accessing results online, please call 855.748.1115 or email DynacarePlusCustomerCare@dynacare.ca

A low-risk result means the pregnancy is not at an increased risk for the chromosome condition(s) screened. A low-risk result does not guarantee an unaffected pregnancy.

A high-risk result does not necessarily mean that the pregnancy has the chromosome condition; however, it does mean the pregnancy is at an increased risk for the chromosome condition(s) screened. Your healthcare provider will discuss follow-up options.

In approximately 3% of cases, a no result can occur due to various biological or technical factors. A blood re-draw may be considered. Your healthcare provider will discuss follow-up options.

As this test provides a risk assessment, and not a diagnosis, each result should be considered in the context of other clinical results, ultrasound findings, and family history.

If the Harmony Prenatal Test indicates a high-risk result, it does not necessarily mean that the pregnancy has a genetic condition, but it does mean there is an increased chance. Your healthcare provider will speak to you about these results, and will discuss follow-up options, such as diagnostic testing to confirm the results.

The Harmony non-invasive prenatal test has a detection rate of >99% for trisomy 21, 97.4% for trisomy 18, and 93.8% for trisomy 13. The false positive rate is <0.1% for trisomy 21, 18 and 13.

Some provinces and territories provide funding for Non-Invasive Prenatal Testing (NIPT). Please speak with your healthcare provider to see if you meet specific criteria for funding before purchasing the Harmony non-invasive prenatal test online.

The Harmony Prenatal Test can be done as early as 10 weeks of pregnancy.

1. Obtain a requisition through one of the following options:
   • Talk to your healthcare provider about the Harmony test and have them complete a requisition for you. Or,
   • Order the Harmony test online via Dynacare Plus and bring the requisition to your healthcare provider to sign.
2. Bring your signed requisition to a Dynacare laboratory or an external partner collection site to provide a blood sample.

A blood sample is required.

There is no fasting or special preparation required to provide sample for the Harmony prenatal test.

Visit www.Dynacare.ca/Findalocation to find a Dynacare Laboratory or one of our external partner collection sites near you.

Home sample collection services may also be an option. To find out if this service is available in your area or to book your home collection appointment, contact Dynacare at 888.988.1888.

The Harmony Prenatal test is not available in the following cases:

• A pregnancy with a vanishing twin or fetal demise
• A pregnancy with more than two fetuses
• Individuals with a history of bone marrow or organ transplant
• Individuals with a history of or active malignancy (cancer)

There may be certain restrictions for pregnant individuals that have a known chromosome condition. If there are factors you think may impact your eligibility, please check with your healthcare provider or contact Dynacare at 888.988.1888 and ask to speak with a Genetic Counsellor.

Genetic counselling phone consultations are available upon request. Additional charges may apply. Please call 888.988.1888 for more information.