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If the genetic testing involves a single gene or monogenic condition, it is referred to as PGT-M (Preimplantation Genetic Testing for Monogenic Disorders). If the genetic condition involves a chromosome rearrangement such as a translocation or inversion, it is called PGT-SR (Preimplantation Genetic Testing for Structural Rearrangements). 

PGT is indicated if you or your partner carry or are affected with a serious genetic disease like cystic fibrosis, fragile X syndrome, muscular dystrophy, Huntington disease and others, that may be passed on to your offspring. The purpose of PGT is to choose an embryo that is not affected by the disease.

We have a specialized PGT team at Olive, including Dr. Albert Yuzpe, Nora, our PGT Nurse Coordinator, and our Genetic Counsellors, Rachel, Colleen, and Sarah. As a first step, Dr. Yuzpe will meet with you  to discuss the steps involved and review whether PGT may be an option, given your personal and family history. After this session, individuals or couples interested in pursuing PGT will have a session with one of our Genetic Counsellors. This session is designed to answer any questions about the current genetic issue, to review the steps involved at Olive in coordination with the US testing lab, and to explain the testing procedure and potential outcomes. The PGT nurse coordinator will be in touch to ensure there are no other fertility issues that need to be addressed, and to coordinate the IVF cycle.

PGT involves going through an IVF or ICSI cycle to obtain embryos which are subsequently biopsied in the laboratory. Depending on your situation, additional blood testing may be required for you and your partner. One or several cells from the embryo are sent to an expert genetic testing facility, and the results are obtained 2-3 weeks later. While waiting for the test results, your embryos will be flash frozen so that they are ready to transfer when the results are available, and the timing is right for your cycle. The results of the genetic testing will be discussed with you by Dr. Yuzpe or one of the Genetic Counsellors.

The diagnostic accuracy of PGT is between 90-99% when looking for a known genetic condition. However, the chances of a successful pregnancy will depend on multiple factors, including your age, hormone profile, and history. Your physician at Olive will review these details with you.

Ask your GP or walk-in clinic for a referral to Olive. Your Olive physician will review the details and help you get started.

Cost

PGT-A can increase the chance of a healthy pregnancy for anyone having IVF, but you may particularly want to consider it if you have had repeated miscarriages, failed IVF, or are over 36 years of age.

Typically, in IVF embryos are graded by their appearance. However, this is a bit like “judging a book by its cover” as there is no way of determining whether an embryo has the right number of chromosomes based on its appearance. PGT-A lets us verify that embryos appearing normal are in fact chromosomally normal.

Embryos created by IVF are grown up to the blastocyst stage (5 or 6 days after fertilization). A sample of about 5-10 cells are biopsied from the portion of the embryo destined to form the placenta. The inner cell mass, which will eventually form the baby, is not touched.

The embryos are frozen and remain at Olive, but cells are sent to a laboratory for genetic testing. The number of chromosomes for each embryo is analyzed with a technique called next-generation sequencing (NGS).

Results will be relayed to you by a telephone call from one of the clinic doctors or genetic counselors. Details of the results for each embryo tested will be reviewed with you at this time and may include the following outcomes:

1. Normal chromosome number (euploid): These embryos have 46 chromosomes in each cell and are the best candidates for a successful transfer.
2. Abnormal chromosome number (aneuploid): These embryos have missing or extra whole or partial chromosomes in every cell and are likely to result in a miscarriage, failed transfer, or a baby with a chromosomal disorder like Down syndrome. The probabilities of these outcomes increase with maternal age.
3. Mosaicism: Embryos with a mosaic finding have some cells with a normal number of chromosomes and some cells with extra or missing whole or partial chromosomes. This result is less clear than the first two outcomes. There are a number of different options and your physician and/or the genetic counselling team will consult with you and advise on what to do in your case.

   This result is less clear than the first two options.

   Mosaic embryos with chromosomal abnormalities associated with known genetic syndromes, such as trisomy 21,13,18, are not recommended for transfer

   Transferring any mosaic embryo is associated with uncertainty as to the possible health of the child

   Whether you keep, discard, or use mosaic embryos is decided after consultation with your physician and/or genetic counselling team

4. Failed QC metrics or No Diagnosis: Results were unable to be obtained due to several possible issues. This occurs in about 2% of biopsies. Embryo rebiopsy is offered at no charge.

As PGT-A requires several additional steps compared to traditional IVF, there is an increase in cost. However, many experts believe that the overall advantages of PGT-A, such as improved pregnancy rates and decreased miscarriage rates, will result in an overall cost benefit. It is also worth considering if you would like more than one child, as you can have assurance of stored healthy embryos to implant at a later date. 

The Olive finance department will discuss the expenses in detail. 

Book an appointment to learn more about whether PGT-A is right for you.

ERA is a test that helps identify more precisely when your endometrium (lining of the uterus) is receptive to implantation by an embryo. Endometrial receptivity is the time sensitive window for implantation (WOI). Most patients will have a similar WOI, but some will fall outside the typical time frames with the result that the embryo fails to implant.

The ERA test involves taking a few endometrial cells at certain times in your cycle and analyzing whether they are receptive or non receptive and whether your WOI is open. By identifying your specific WOI your doctor can create a unique, personalized embryo transfer protocol (pET).

You should discuss the ERA test with your fertility doctor if:

• You have had 2 or more unsuccessful embryo transfers with high quality untested embryos
• You have had 1 or more unsuccessful embryo transfers after PGT-A
• You have had concerns with endometrial lining (example: thin endometrial lining)

A study* conducted by the medical team at Olive Fertility Centre found implantation and ongoing pregnancy rates were higher (73.7 vs. 54.2% and 63.2 vs. 41.7%, respectively) for patients receiving pET compared to patients without pET. It also found that using a modified progesterone protocol may improve the outcomes of subsequent healthy frozen embryo transfers.

* Tan J, Kan A, Hitkari J, Taylor B, Tallon N, Warraich G, Yuzpe A, Nakhuda G. The role of the endometrial receptivity array (ERA) in patients who have failed euploid embryo transfers. J Assist Reprod Genet. 2018 Apr;35(4):683-692. doi: 10.1007/s10815-017-1112-2. Epub 2018 Jan 11. PMID: 29327111; PMCID: PMC5949105. https://pubmed.ncbi.nlm.nih.gov/29327111/

NIPT is a prenatal screening test that offers pregnant women accurate information about the genetic health of their baby without the risk associated with invasive testing such as amniocentesis or chorionic villus sampling (CVS).

This test allows us to screen the baby’s genetic material (DNA) by taking a simple blood sample from the mother’s arm. The baby’s genetic material (which is in the mother’s blood) is measured to look for both too few and too many copies of certain chromosomes. When a baby has three copies of a chromosome instead of the usual two, this is called a trisomy.

figure 1 Non-Invasive Prenatal Screening (NIPT)

NIPT is used to screen for the most common genetic conditions, such as:

• Trisomy 21 (Down syndrome)
• Trisomy 18 (Edwards syndrome)
• Trisomy 13 (Patau syndrome)
• Sex Chromosome conditions (X, XXX, XXY, XYY)

At Olive, you have support every step of the way. Choosing the prenatal screening that’s best for you and your pregnancy can be confusing. However, at Olive you will have the option of meeting with one of our certified genetic counsellors, who will discuss your options and any concerns you may have. After your information session you will have a single blood sample drawn. After the results are available the counsellor will review them with you and provide you and your care provider with a detailed report. If NIPT identifies any concerns, follow-up recommendations and referrals will be made by our genetic counsellors.

We offer the most clinically-proven test available. After extensively reviewing all the options for NIPT testing, we chose the Harmony NIPT Test by Roche / Ariosa Diagnostics as the best test for our patients. The test is low cost and its advanced testing methodology has extensive studies on thousands of patients. In addition, NIPT with Harmony is:

Extremely Accurate

• >99% detection rate for Down syndrome
• Low false positive rate of <0.1%
• Low test failure rate of 3%

Simple

• Requires only 1 blood test

Safe

• A blood test is taken from the mother’s arm and poses no risk to the pregnancy

Early

• Test can be done as early as 10 weeks of pregnancy

Fast

• Results are available in a maximum of 12 calendar days after the blood draw, and usually earlier

Amnio 100%

NIPT >99%*

IPS 87%

SIPS 85%

FTS 83%

* Prenatal Screening for Fetal Aneuploidy in Singleton Pregnancies. Joint SOGC-CCMG Clinical Practice Guidelines. No. 261

Yes. Studies have shown that NIPT with Harmony is very accurate for both single and twin pregnancies. Although NIPT can give information on fetal sex in twin pregnancies, it does not provide information on sex chromosome aneuploidy (X, XXX, XXY and XYY).

NIPT, like other prenatal screening tests, is not considered diagnostic (100% accurate). However, if the NIPT result is abnormal, we will provide you with counselling and offer you diagnostic testing, like amniocentesis, which will give definitive results.

Call us at 604-559-9950

Email us at [email protected]

Visit the following links to learn more: 

BC Prenatal Screening link for finding options in BC

HealthLink BC Info on NTs

NT Sites in BC

Invitae NIPS info