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Genetic counselling service

All patients at clinique ovo have free access to prenatal genetic counselling services provided by our certified genetic counsellor and supervised by our geneticist, Dr. Maude Lefebvre. All services are covered by the Régie de l’assurance maladie du Quebec.

Consultations take place primarily at clinique ovo in Montréal, although Skype consultations can sometimes be arranged for patients who live far from the clinic.

 

 

WHEN IS THE BEST TIME TO BE REFERRED FOR GENETIC COUNSELLING?

When it comes to any genetic condition or previously known risk, it’s always best to seek genetic counselling before trying to conceive, so you can get the necessary tests and discuss your reproductive plan, including available options (prenatal genetic diagnosis, preimplantation genetic diagnosis, egg/sperm donation, and adoption).

In cases where the risk is unknown before pregnancy, something is seen on the ultrasound, or a first diagnosis is made in your family, prenatal genetic counselling is available quickly, within 1-2 business days. A detailed written report of the consultation and a list of the tests performed or examinations indicated will be sent to the referring doctor to ensure optimal continuity of care.

The genetic counselling service is also available to all healthcare professionals who would like more information about how to manage specific cases.

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    clinique ovo montreal

    All services offered 8000, boul. Décarie,
    Montreal Qc H4P 2S4
    ovo fertility office 100 & 200
    Monday to Friday 7:30am to 6:00pm
    Weekend on appointment
    fertilite@cliniqueovo.com
    ovo elle bureau 600
    Monday to Friday 8:00am to 4:00pm
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    ovo cryo Monday to Wed. 8:00am to 5:00pm
    Thursday 8:00am to 6:00pm
    Friday 8:00am to 5:00pm
    Saturday 9:00am to 3:00pm
    Appointments :
    Monday to Friday 9:00am to 3:00pm
    Thursday 9:00am to 4:00pm
    Saturday 9:00am to 2:30pm
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    ovo biosurance office 600
    Monday to Friday 8:00am to 4:00pm
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    ovo labo office 600
    Monday to Friday 8:00am to 4:00pm
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    ovo prenatal office 600
    Monday to Friday 8:00am to 4:00pm
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    Monday to Friday 7:15am to 5:00pm
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    clinique ovo rive-sud

    3141, boul. Taschereau,
    Greenfield Park Qc J4V 2H2
    ovo fertility - certain services offered office 410
    Call to know our hours
    fertilite@cliniqueovo.com
    ovo prenatal - certain services offered office 420
    Monday to Friday 8:00am to 4:00pm
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    ovo labo - certain services offered office 420
    Monday to Friday 8:00am to 4:00pm
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    clinique ovo quebec

    ovo prenatal - certain services offered 2600 Boul. Laurier, suite 295,
    Quebec Qc G1V 4T3
    Monday to Friday 8:00am to 4:00pm prenatal@cliniqueovo.com



    clinique ovo rive-nord

    ovo prenatal - Prenatal screening 1000 Montée des Pionniers,
    Terrebonne QC J6V 1S8
    Monday to Thursday 9:00am to 3:00pm
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    clinique Echo-medic

    Ovo prenatal - certain services
    Laval 1575, boul. de l'Avenir, suite 110,
    Laval Qc H7S 2N5
    t. 1.877.664.3246
    Monday to Thursday 7:30am to 4:30pm
    Friday 7:30am to 3:00pm
    Boisbriand 20865, chemin de la Côte Nord, suite 201
    Boisbriand Qc J7E 4H5
    t. 1.877.664.3246
    Monday to Thursday 8:00am to 4:00pm
    Friday 8:00am to 3:00pm
    Montreal and South-Shore: t. 514.798.2000
    Quebec: t. 418.425.0128
    f. 514.798.2001
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WHY MIGHT YOU BE REFERRED FOR GENETIC COUNSELLING?

 

 

A COUPLE WHO WANTS TO REDUCE THEIR RISK OF PASSING ON A SILENT MUTATION

 

Examples of indications:
• One of the partners is adopted
• The partners are blood relatives
• The couple wants to reduce the genetic risks

 

couple-en-preconception

 

Sometimes, the family history isn’t relevant or isn’t available (e.g., adoption or family feud), and there is no indication for specific genetic testing. Because we are all carriers of several silent genetic mutations, a couple who is currently pregnant could decide to find out more about their respective conditions in order to better understand the genetic risks for their future child. Genetic counselling with testing to rule out the risk of nearly 300 genetic conditions is available*.

 

 

 

 

Available tests:
• Carrier testing for 288 autosomal recessive and X-linked conditions

PRESENCE OF ABNORMALITIES DURING A CURRENT OR PREVIOUS PREGNANCY

 

Examples of indications:
• Increased nuchal translucency
• Spina bifida
• Congenital malformation (heart, kidney, etc.)
• Trisomy 21 (Down syndrome)
• Fragile X syndrome
• Spinal muscular atrophy
• Intellectual disability

 

couple-en-preconception

 

Current pregnancy: Ultrasounds are an essential part of screening for chromosomal and morphological abnormalities. The presence of ultrasound markers could change the estimated risk of a chromosomal abnormality based on the prenatal screening tests and, in some cases, require an invasive diagnostic test (if desired) to confirm the suspected diagnosis. The detection of an abnormality should lead to genetic counselling, to help the parents make important decisions about prenatal diagnostic testing and continuing with the pregnancy.

 

Previous pregnancy(ies): Most chromosomal and morphological abnormalities are sporadic and only certain genetic conditions are known to be associated with a high risk of recurrence in subsequent pregnancies. Anytime you suffer a pregnancy loss due to an abnormality, or a child is diagnosed with major health problems, the prospect of a new pregnancy can be daunting. A meeting with a genetic counsellor is a venue for you to talk about your concerns and get an estimate of the risk of the condition recurring. If a specific genetic condition has been identified, the meeting will also include a discussion of the options available in terms of prenatal and/or preimplantation genetic diagnosis.

 

 

Tests available on the fetus:
• Karyotype
• aCGH
• Targeted molecular testing
• +/- Parental testing if indicated

RECURRENT MISCARRIAGES

 

Examples of indications:
• > 2 miscarriages
• Recurrent implantation failure (IUI/IVF)

 

couple-en-preconception

 

Miscarriages occur in 15-20% of pregnancies, most often during the first trimester. Several causes need to be considered in the case of recurrent miscarriages (or implantation failure following IUI/IVF), and genetic testing in the form of a karyotype can rule out the presence of a balanced structural chromosomal abnormality in the partners. When there is no explanation, an analysis* of the products of conception could also be very helpful at providing insight into some couples’ reproductive problems. (see also: use of MAR: PGT-A)

 

 

 

 

Available tests:
• Parental karyotype
• Analysis of products of conception (QF-PCR and aCGH)
• Preimplantation screening (PGT-A)

KNOWLEDGE OF SIGNIFICANT FAMILY HISTORY

 

Examples of indications:
• Muscular dystrophy
• Cystic fibrosis
• Sickle cell anemia or thalassemia
• Recurrent or childhood cancers
• From Saguenay‒Lac-St-Jean
• Ashkenazi Jewish ancestry
• Consanguinity

 

figure antécédent santé

 

Part of any genetic consultation, a family history dating back three generations will reveal information relevant to the risk assessment. Relatives with potentially hereditary severe medical conditions could influence the risks involved in a pregnancy. Similarly, ethnic origin or consanguinity could impact the test results. A risk estimate will help patients to better plan a current or future pregnancy and to understand their options; in some cases, they may also choose to proceed with genetic testing to pinpoint the risks.

 

 

 

 

Available tests:
• Specific genetic tests related to the family history and/or ethnic origin for one or both partners

PATIENT WITH A SIGNIFICANT PERSONAL HEALTH OR FERTILITY HISTORY

 

Examples of indications:
• Premature ovarian failure
• Azoospermia
• Congenital adrenal hyperplasia
• Cystic fibrosis
• Familial chromosome translocation
• Turner syndrome (monosmy X)
• Klinefelter syndrome (XXY)

 

figure histoire sante enceinte

 

Patients who are carriers or sufferers of a severe medical condition could risk transmitting it during a pregnancy or experiencing fertility issues. Individuals with a known diagnosis must provide their genetic test results prior to the consultation to allow for personalized genetic counselling and a precise risk estimate.
If no diagnosis has been made, an assessment by a medical geneticist (or certain tests) could identify a genetic etiology for certain health problems.

 

 

 

 

Available tests:
• Karyotype
• Test for fragile X syndrome
• Test for Y chromosome microdeletions
• Test for the cystic fibrosis CFTR gene
• Specific genetic tests related to personal history, which can sometimes include testing of the unaffected spouse

WHAT INFORMATION IS NEEDED PRIOR TO THE GENETIC COUNSELLING SESSION?

 

The genetics team will need access to all information pertaining to the risk assessment for the patient or couple referred for genetic counselling. The patients will need to arrive at the genetic counselling session knowing their family history (when available) and will need to provide in advance all medical records or genetic reports relevant to their assessment. In the absence of a confirmed diagnosis or molecular genetic testing report, it will sometimes be difficult or impossible to guarantee a complete assessment.

 

• Provide all information relevant to the risk assessment
o Family history (when available)
o Medical records/genetic reports relevant to the assessment
Without confirmation, the reliability of the assessment cannot be guaranteed

IN SUMMARY

 

• Genetic counselling service covered by the RAMQ
• Covers the preconception and prenatal period
• No waiting list
• Detailed report for the referring doctor, ensuring continuity of care

 

To make an appointment or for more information: genetique@cliniqueovo.com

 

 

*Fees may apply for these tests, which are not medically necessary