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Attention Prenatal Patients:

We will continue to offer non-invasive prenatal testing (NIPT) & First Trimester Screening (FTS) during the COVID-19 crisis. Please email our genetic counsellors, Diane and Jessica, at genetics@pacificfertility.ca or call 604-422-7276 to book an appointment.

Please note that we are not permitting partners/support persons to attend in-office appointments until further notice.

For more information on various types of Prenatal Screening, visit our Resources page.

Couple
A woman sits on a window sill; close up shot of her pregnant belly | PCRM Fertility Clinic Vancouver

Preconception Expanded Carrier Screening

Carrier screening is a genetic test that can determine a couple’s risk of having a child affected with a genetic condition or disease.

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Genetic Carrier Screening – offered through Fulgent’s Beacon Carrier Screening Test

What is carrier screening?

Carrier screening is a genetic test that can determine a couple’s risk of having a child affected with a genetic condition or disease. About two out of every three people tested are shown to be a carrier for at least one condition. Typically, carriers of a genetic condition are healthy and not aware of their risk. If their partner is also a carrier for the same condition, they are at an increased risk of having a child affected with that condition.  Approximately one in 50 couples is a carrier for the same condition.

Who should have carrier screening?

According to the American College of Obstetricians and Gynecologists (ACOG), expanded carrier screening should be offered to pregnant women and women considering pregnancy, regardless of ethnicity and family history. Expanded carrier screening tests for hundreds of genetic conditions and is considered an appropriate approach for carrier screening during pregnancy. If a woman is found to be a carrier for a specific condition, carrier screening for her partner should be considered.

What are the benefits of carrier screening?

Beacon Carrier Screening provides information to make informed decisions regarding:

  • Reproductive planning
  • Prenatal testing options
  • Preparation for the birth of a child with a genetic disorder

Which genetic conditions are included in Beacon Carrier Screening tests?

Fulgent offers five different Beacon Carrier Screening tests, from focused 6-gene panels to the Beacon Expanded Panel, which screens over 320 hereditary conditions. Screened conditions include:

  • Cystic Fibrosis
  • Tay-Sachs
  • Fragile X
  • Thalassemia
  • Sickle Cell Anemia
  • Spinal Muscular Atrophy
  • Canavan Disease
  • Bloom Syndrome
  • Wilson Disease

How much does this test cost, and how can I get more information?

The cost for any Beacon Carrier Screening test is $700 CAD per person.

To order a test or get more information on carrier screening, contact PCRM’s Genetic Counselors, Jessica and Diane: genetics@pacificfertility.ca

Beacon Carrier Screening

A fertility doctor at PCRM explains First Trimester Screening (FTS) to a patient | PCRM Fertility Clinic Vancouver

First Trimester Screening (FTS)

A non-invasive method of assessing early fetal growth, anatomy, and the chances of certain chromosomal differences.

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First Trimester Screening (FTS) is a non-invasive method of assessing early fetal growth, anatomy, and the chances of certain chromosomal differences. It is performed through ultrasound and bloodwork at 11-14 weeks gestation.

PCRM is excited to announce that, as of 2020, our FTS program also includes screening for pre-eclampsia (PE). Pre-eclampsia is a multi-system disorder that affects 2-5% of pregnant women, and is a leading cause of maternal and fetal morbidity and mortality. It is characterized by high blood pressure and signs of damage to organ systems, usually the liver and kidneys. PE screening details are provided below.

First Trimester Screening was developed largely through the work of the Fetal Medicine Centre, London, UK and the pioneering ideas of Professor Kypros Nicolaides. Since 1990, Nicolaides has been targeting research towards the early detection of genetic syndromes, in methods which involve examining the baby at an early stage in its development (the end of the first trimester, or 11-14 weeks). Since its inception, new discoveries have been added to the original finding of Nuchal Translucency (NT).

The most common chromosome differences include trisomy 21 (Down syndrome), trisomy 18 (Edward syndrome), and trisomy 13 (Patau syndrome). All of these disorders affect the baby’s development and range in severity from mild to severe. In the process of FTS, 6 markers are used to statistically assess the chance of one of the syndromes. These markers all fall under a quality review program through the Fetal Medicine Foundation, to ensure reproducibility, and global uniformity of testing. The markers include:

  • NT – Nuchal Translucency
  • Blood work for PAPP-A and free-beta HCG (proteins in the mother’s blood)
  • NB – Nasal Bone
  • FHR – Fetal Heart Rate
  • DV – Ductus Venosus Flow

The combination of all six, in conjunction with maternal age, provides a 96% likelihood of detection, with a 3% chance of a falsely positive result. Full fetal anatomy is also reviewed for major defects.

PE screening uses a combination of maternal risk factors, blood pressure measurements, ultrasound and blood test markers to predict the risk of pre-term PE in a pregnancy. Women identified at high risk for PE are recommended to take prophylactic aspirin to reduce their risks. PE screening includes:

  • MAP – Mean Arterial Pressure (mother’s blood pressure)
  • PlGF – Placental Growth Factor (protein in mother’s blood)
  • PAPP-A – Pregnancy-associated plasma protein A (protein in mother’s blood)
  • UTPI – Uterine Artery Pulsatility Index (if applicable)

There are two versions of early genetic screening in pregnancy – NIPT (which is based on cell-free fetal DNA) and FTS. Both are integrated, along with PE screening, in the comprehensive screening package called TriO.

PCRM offers several options for prenatal screening, including first trimester screening (FTS), non-invasive prenatal testing (NIPT), pre-eclampsia screening (PE), and a combination of the three (TriO). The following table summarizes what each prenatal screening option offers.

TriO comparison table

*NT = nuchal translucency, FHR = fetal heart rate, DV = ductus venosus flow, NB = nasal bone

**All microdeletion syndromes are rare, these two syndromes are very rare

***If you want to know the sex of both babies, the cost is $1250. If not, the cost is $1000.

Fertility doctor at PCRM provides support to a pregnant mother after IVF treatment | PCRM Fertility Clinic Vancouver

Non-Invasive Prenatal Testing (NIPT)

A single blood test that uses a special genetic technology to screen pregnancies for the most common chromosome differences.

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Attention Prenatal Patients:

We will continue to offer Non-Invasive Prenatal Testing (NIPT) & First Trimester Screening (FTS) during the COVID-19 crisis. Please email our genetic counsellors or call 604-422-7276 to book an appointment.  Please note due to COVID-19 we are not permitting partners/support persons to attend in-office appointments until further notice.

How does NIPT work?

NIPT (Non-Invasive Prenatal Testing) is a single blood test that uses a special genetic technology to screen pregnancies for the most common chromosome differences. It can also inform you of the sex of your baby, if desired.  This new test can be completed as early as 10 weeks gestation, with no risk to the pregnancy. NIPT analyzes the DNA in your blood (your DNA as well as fetal DNA) to screen the pregnancy for the following chromosome differences:

  • Trisomy 21 (Down syndrome)
  • Trisomy 18 (Edwards syndrome)
  • Trisomy 13 (Patau syndrome)
  • Sex chromosome differences such as Monosomy X, Triple X (XXX), Klinefelter syndrome (XXY), and Jacob syndrome (XYY)

What conditions can NIPT screen for?

NIPT can screen pregnancies for Trisomy 13, Trisomy 18, Trisomy 21 and sex chromosome differences. While they are each caused by a missing or extra copy of a chromosome, they have distinct features. Please contact one of our genetic counsellors if you would like to discuss these conditions further. Alternatively, Genetics Home Reference is a useful resource to learn more about these genetic conditions (https://ghr.nlm.nih.gov/ ). For example, more information about Down syndrome can be found here.

How Accurate is NIPT vs. MSP Insured Screening Tests?

ChromosomeNIPT Detection RateInsured Screening Detection Rate1NIPT False Positive RateInsured Screening False Positive Rate1
21>99%73 - 100%<0.1%4 - 44%
18~97.4%80 - 90%<0.1%0.3 - 1%
13~93.8%Not screened<0.1%Not screened

1Varies depending on your age and screening test received (e.g. SIPS, IPS, QUAD)

NIPT can also screen for select microdeletions (a small, missing piece of a chromosome). Microdeletions that cause genetic syndromes occur randomly and are unrelated to a woman’s age. These syndromes are rare, so you are very unlikely to receive a “high risk” result for one. If you do, it is more likely to be a false positive than a true result. Conclusive information would require invasive diagnostic testing. The select microdeletion syndromes are listed in the comparison table at the bottom of this page.

Is NIPT covered by MSP?

NIPT is not covered by MSP, except in a few rare cases: 1) if a woman has had a prior pregnancy where the baby was diagnosed with Down syndrome, Trisomy 18, or Trisomy 13, or 2) if a woman has received a “positive screen” on a different prenatal screening test (Quad, IPS, SIPS, FTS) during this pregnancy.

Who can have NIPT?

Pregnant women of any age or background can do NIPT. However, NIPT should not be done in any of the following cases:

  • A pregnancy with a “vanishing twin” or fetal demise
  • Women with a history of bone marrow transplant
  • Women with an active malignancy

How long into a pregnancy can one have NIPT?

There is no cut-off. However, most people prefer to do it sooner rather than later, in case a high risk result is received.

When will I receive my NIPT results?

Typically 5-7 days after your blood draw. However, this can vary based on the company completing the test and unforeseen circumstances. The blood draw can be done as early as 10-11 weeks gestation. One of our genetic counsellors will call you to discuss the results as soon as they are available.  We will provide you and your pregnancy care provider with a detailed copy of the report.  If any concerns are identified, we will coordinate appropriate follow-up.  Insured prenatal screening options in BC do not provide final results until approximately 16-21 weeks gestation.

Can I find out the sex of the baby?

Yes, that’s an option available to you with NIPT. The accuracy is >99%. However, in <3% of cases, the fetal sex result is inconclusive. Since fetal sex is not the primary purpose of NIPT, there is no refund for an “inconclusive” result.

What types of results can I get?

  • Low Risk: The chance that the baby has Down syndrome, Trisomy 18, or Trisomy 13 is significantly decreased.
  • High Risk: The chance of a chromosome difference is increased. A high risk result does not automatically mean that the baby is affected. Invasive diagnostic testing (amniocentesis or CVS) is required for conclusive results.
  • No Result: In a small number of cases (~2%), the test does not provide a result and a re-draw can be attempted. Of those who opt for a re-draw, approximately 70% will receive a result. In the rare case a result cannot be obtained for you, a refund will be initiated and appropriate follow-up recommendations will be discussed.

What are the next steps after NIPT?

NIPT is a targeted screen. NIPT does not replace standard methods of screening including ultrasound evaluation at 18-20 weeks gestation. PCRM also offers a First Trimester Screening program that includes an ultrasound between 11 and 14 weeks gestation where full early fetal anatomy is reviewed and your risk for pre-eclampsia is assessed (see here for more information).

How does NIPT compare with other screening options?

 TriO
NIPT onlyFTS & PE only
SingletonTwinsStandard NIPT (singleton or twins)Standard NIPT + 8 Microdeletion Syndromes (singleton only)
First Trimester Screening

Abdominal ultrasound: viability, growth, early anatomy, markers of chromosome differences (NT, FHR, DV, NB)*

Maternal serum: PAPP-A and hCG

 


Pre-Eclampsia Screening

(maternal blood pressure, serum PlGF, PAPP-A, history questionnaire)

 


NIPT: Chromosome differences -Trisomy 21 (Down syndrome), Trisomy 18, Trisomy 13

 


NIPT:  Sex chromosome differences (X, XXY, XXX, XYY)

 
(optional)
Not available(singleton only)
NIPT: Fetal sex(es)(optional)
(optional)
NIPT:

Microdeletion Syndromes
6 (optional)

22q11.2 del syndrome
Cri-du-chat syndrome

1p36 deletion syndrome

Prader-Willi syndrome

Angelman syndrome

Wolf-Hirschhorn syndrome
Not available ✔ 8

22q11.2 del syndrome
Cri-du-chat syndrome

1p36 deletion syndrome

Prader-Willi syndrome

Angelman syndrome

Wolf-Hirschhorn syndrome
Jacobsen syndrome**
Langer-Giedion syndrome**

 

Cost (CAD- no tax)$1000
$1250***$650$950$650

*NT = nuchal translucency, FHR = fetal heart rate, DV = ductus venosus flow, NB = nasal bone

**All microdeletion syndromes are rare, these two syndromes are very rare

***If you want to know the sex of both babies, the cost is $1250. If not, the cost is $1000.

Have more questions?

We know that prenatal screening options today can be quite confusing and overwhelming. Our genetic counsellors are available to answer your questions and to discuss the benefits and limitations of NIPT, First Trimester Screening and insured screening options to determine the best choice for you.

Contact us today!

How does NIPT work?

NIPT (Non-Invasive Prenatal Testing) is a single blood test that uses a special genetic technology to screen pregnancies for the most common chromosome differences. It can also inform you of the sex of your baby, if desired.  This new test can be completed as early as 10 weeks gestation, with no risk to the pregnancy. NIPT analyzes the DNA in your blood (your DNA as well as fetal DNA) to screen the pregnancy for the following chromosome differences:

  • Trisomy 21 (Down syndrome)
  • Trisomy 18 (Edwards syndrome)
  • Trisomy 13 (Patau syndrome)
  • Sex chromosome differences such as Monosomy X, Triple X (XXX), Klinefelter syndrome (XXY), and Jacob syndrome (XYY)

What conditions can NIPT screen for?

NIPT can screen pregnancies for Trisomy 13, Trisomy 18, Trisomy 21 and sex chromosome differences. While they are each caused by a missing or extra copy of a chromosome, they have distinct features. Please contact one of our genetic counsellors if you would like to discuss these conditions further. Alternatively, Genetics Home Reference is a useful resource to learn more about these genetic conditions (https://ghr.nlm.nih.gov/ ). For example, more information about Down syndrome can be found here.

How Accurate is NIPT vs. MSP Insured Screening Tests?

Chromosome NIPT Detection Rate Insured Screening Detection Rate1 NIPT False Positive Rate Insured Screening False Positive Rate1
21 >99% 73 – 100% <0.1% 4 – 44%
18 ~97.4% 80 – 90% <0.1% 0.3 – 1%
13 ~93.8% Not screened <0.1% Not screened

1Varies depending on your age and screening test received (e.g. SIPS, IPS, QUAD)

NIPT can also screen for select microdeletions (a small, missing piece of a chromosome). Microdeletions that cause genetic syndromes occur randomly and are unrelated to a woman’s age. These syndromes are rare, so you are very unlikely to receive a “high risk” result for one. If you do, it is more likely to be a false positive than a true result. Conclusive information would require invasive diagnostic testing. The select microdeletion syndromes are listed in the comparison table at the bottom of this page.

Is NIPT covered by MSP?

NIPT is not covered by MSP, except in a few rare cases: 1) if a woman has had a prior pregnancy where the baby was diagnosed with Down syndrome, Trisomy 18, or Trisomy 13, or 2) if a woman has received a “positive screen” on a different prenatal screening test (Quad, IPS, SIPS, FTS) during this pregnancy.

Who can have NIPT?

Pregnant women of any age or background can do NIPT. However, NIPT should not be done in any of the following cases:

  • A pregnancy with a “vanishing twin” or fetal demise
  • Women with a history of bone marrow transplant
  • Women with an active malignancy

How long into a pregnancy can one have NIPT?

There is no cut-off. However, most people prefer to do it sooner rather than later, in case a high risk result is received.

When will I receive my NIPT results?

Typically 5-7 days after your blood draw. However, this can vary based on the company completing the test and unforeseen circumstances. The blood draw can be done as early as 10-11 weeks gestation. One of our genetic counsellors will call you to discuss the results as soon as they are available.  We will provide you and your pregnancy care provider with a detailed copy of the report.  If any concerns are identified, we will coordinate appropriate follow-up.  Insured prenatal screening options in BC do not provide final results until approximately 16-21 weeks gestation.

Can I find out the sex of the baby?

Yes, that’s an option available to you with NIPT. The accuracy is >99%. However, in <3% of cases, the fetal sex result is inconclusive. Since fetal sex is not the primary purpose of NIPT, there is no refund for an “inconclusive” result.

What types of results can I get?

  • Low Risk:The chance that the baby has Down syndrome, Trisomy 18, or Trisomy 13 is significantly decreased.
  • High Risk:The chance of a chromosome difference is increased. A high risk result does not automatically mean that the baby is affected. Invasive diagnostic testing (amniocentesis or CVS) is required for conclusive results.
  • No Result:In a small number of cases (~2%), the test does not provide a result and a re-draw can be attempted. Of those who opt for a re-draw, approximately 70% will receive a result. In the rare case a result cannot be obtained for you, a refund will be initiated and appropriate follow-up recommendations will be discussed.

What are the next steps after NIPT?

NIPT is a targeted screen. NIPT does not replace standard methods of screening including ultrasound evaluation at 18-20 weeks gestation. PCRM also offers a First Trimester Screening program that includes an ultrasound between 11 and 14 weeks gestation where full early fetal anatomy is reviewed and your risk for pre-eclampsia is assessed (see here for more information).

How does NIPT compare with other screening options?

TriO comparison table

*NT = nuchal translucency, FHR = fetal heart rate, DV = ductus venosus flow, NB = nasal bone

**All microdeletion syndromes are rare, these two syndromes are very rare

***If you want to know the sex of both babies, the cost is $1250. If not, the cost is $1000.

Have more questions?

We know that prenatal screening options today can be quite confusing and overwhelming. Our genetic counsellors are available to answer your questions and to discuss the benefits and limitations of NIPT, First Trimester Screening and insured screening options to determine the best choice for you.

Contact us today!
Email: PCRM-GeneticCounsellors@pacificfertility.ca
Phone:  604-422-7276 or Toll Free:  1-866-481-7276

ivf procedure success | PCRM Vancouver Fertility Clinic

TriO

PCRM is excited to offer the combination of two highly accurate prenatal screens, Non-Invasive Prenatal Testing (NIPT) and First Trimester Screening (FTS).

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PCRM is excited to offer a comprehensive prenatal screening program that combines Non-Invasive Prenatal Testing (NIPT), First Trimester Screening (FTS), and Pre-eclampsia (PE) screening.  By the end of the first trimester, TriO enables pregnancy evaluation for:

  • Chromosome differences
  • Early growth and anatomy
  • Placental disorders
  • Severe open neural tube defects
  • Markers of heart defects
  • Pre-eclampsia risk

How is TriO done?

TriO begins with an appointment at around 11 weeks of pregnancy for blood work.   A woman’s blood will be drawn for NIPT genomic assessment and for FTS measurement of two placental proteins (PAPP-A and PlGF) and a pregnancy hormone (hCG). NIPT results typically take 5-7 days.  As soon as these results are available, the genetic counselors contact you to review the results and arrange follow-up if necessary.

Then, between 11 and 14 weeks, the FTS ultrasound with PE screening is performed.   The ultrasound is performed by Dr. Seethram and results are discussed in real-time.  During the visit, the woman’s blood pressure will also be measured. After this is completed, the genetic counselors input the data from the ultrasound, determine the FTS blood work results, and discuss with you the final, combined results. You will be provided with a report to take home with you.

The Evolution of Screening – Why is FTS with PE screening plus NIPT the most comprehensive fetal and maternal screen?

What is NIPT?

You can read more about NIPT by linking to PCRM’s webpage: https://pacificfertility.ca/first-trimester/nipt.  NIPT determines with high accuracy the presence or absence of the most common chromosome differences: Down syndrome, trisomy 18, and trisomy 13.  Although the technology behind NIPT is remarkable, it cannot assess the pregnancy for conditions other than specific chromosome differences.   Thus, results from NIPT can be reassuring, but can still leave many questions about the baby’s health left unanswered.

What is FTS?

You can read more about FTS by linking to PCRM’s webpage: https://pacificfertility.ca/first-trimester.   FTS determines with high accuracy the presence and absence of the same chromosome differences evaluated by NIPT.   The difference is this:  FTS involves an ultrasound to assess fetal well-being and development and maternal serum measurement of a placental protein (PAPP-A) and a pregnancy hormone (hCG).

Because of its more broad approach to screening, FTS is able to detect concerns beyond the chance of fetal chromosome differences. FTS ultrasound, especially between 12 and 14 weeks, provides a good overview of the baby’s physical development and can detect birth defects unrelated to chromosome differences.

First trimester blood work gives insight into how the placenta is functioning. Maternal serum screening can be used to assess risks of complications related to the placenta that occur much later on in pregnancy. Intrauterine growth restriction, maternal hypertension, and pre-eclampsia are some of the conditions that have been associated with abnormal FTS blood work. At the beginning of 2020, additional markers and risk factors were incorporated to improve pre-eclampsia screening.

What is PE screening?

Pre-eclampsia (PE) is a multisystem disorder that typically affects 2%–5% of pregnant women and is one of the leading causes of maternal and fetal morbidity and mortality, especially when the condition is of early onset. Globally, 76,000 women and 500,000 babies die each year from this disorder. PE gives high blood pressure and signs of damage to organ systems, usually the liver and kidneys. Due to scientific advancements, it is now recommended that all pregnant women should be screened for PE at 11 to 13+6 weeks gestation using a combination of maternal risk factors, ultrasound, blood pressure measurements and blood test markers.

The benefits of TriO

The primary benefit of TriO is to have comprehensive and accurate screening information available early in the pregnancy.  MSP-covered screens (IPS, SIPS, and Quad screening) require second trimester information to calculate the chance of a chromosome condition.   Through TriO, a comprehensive picture of the pregnancy’s health will be available by the end of the first trimester.

To have screening results earlier in pregnancy has both emotional and medical benefits.   In the very likely event of normal results, early reassurance is provided.  In cases of positive or abnormal results, you can access diagnostic procedures earlier or seek specialty consultations or treatment earlier.

PCRM offers several options for prenatal screening, including first trimester screening (FTS), non-invasive prenatal testing (NIPT), pre-eclampsia screening (PE), and a combination of the three (TriO). The following table summarizes what each prenatal screening option offers.
TriO comparison table
*NT = nuchal translucency, FHR = fetal heart rate, DV = ductus venosus flow, NB = nasal bone

**All microdeletion syndromes are rare, these two syndromes are very rare

***If you want to know the sex of both babies, the cost is $1250. If not, the cost is $1000.