Genetic Counsellor
How we can help
Genetics can be complicated. Certain genetic factors may be important to consider prior to, or during, a pregnancy. Our Genetic Counsellor is here to provide you with an understanding of the basics of genetics, a comprehensive risk assessment of your medical and family history, and a review of the screening and testing options available to you.
Melissa Cornthwaite, MSc, CGC, CCGC - Genetic Counsellor
Genetic Testing
Genetic testing and screening entails analyzing an embryo’s cells to detect possible chromosomal defects. Abnormal chromosomes can stop an embryo from implanting on the uterine lining or result in a miscarriage or the birth of a child with physical and/or mental disabilities.
Testing can help prevent these outcomes by identifying the affected embryos during their development in the laboratory. At Tripod Fertility, we pride ourselves on offering the latest techniques to give our patients the best patient care and maximize their chances of conceiving.
What are the benefits to genetic testing
Test results can provide a sense of relief from uncertainty and help patients make informed decisions about their fertility journey. You can make the right reproductive choices for you and your family. Genetic testing will give you the data you need when you most need it.
You might have concerns about a potential genetic disorder or if you are having trouble getting pregnant, genetic testing may provide potential causes of infertility. This testing may be helpful if you are over the age of 35 and have a history of failed pregnancies.
Method of genetic testing
Preimplantation Genetic Testing for Aneuploidy (PGT-A)
PGT-A testing looks more generally at the chromosomal make-up of the embryo and does not diagnose any specific diseases.
If an embryo contains the wrong number of chromosomes (a condition known as aneuploidy), such as when one is missing, then the cells in this embryo are incomplete. If there is an extra chromosome, the cells will malfunction which can result in conditions such as Down syndrome.
Preimplantation Genetic Testing for Monogenic/Single Gene Defect (PGT-M)
PGT-M is advanced single-gene testing suitable for people who have a family history of a single-gene disorder and are at risk of producing embryos affected by that condition.
Currently PGT-M allows testing for disorders including:
- Cystic fibrosis
- Beta-thalassaemia
- Thalassaemia
- Spinal Cerebral Atrophy and Spinal Muscular Atrophy
- BRCA1/BRCA2 (hereditary breast and/or ovarian cancer)
Who is genetic testing recommended for?
Genetic testing is recommended for individuals who:
- Have experienced recurrent miscarriage
- Have had unsuccessful IVF cycles.
- Have a family history of chromosomal disorders such as Down syndrome
- Are of an advanced maternal age (38 or over)
- Want to increase their chance of a successful IVF cycle
Interested in getting started?
Please fill out our referral form and we will be in touch with you to schedule an appointment.