Testing Options

At Demeter we offer numerous excess testing options for our patients including genetic screening, PGT-A & PGT-M, NK Cells, Karyotyping and more. There are numerous reasons why patients may opt to undergo these extra testing options and at Demeter we are more than happy to discuss this with you during your consultations and treatment planning process. We will approach each patient on a case by case basis to discuss if testing is required, recommended or appropriate for you. Unlike other clinics, we do not recommend extra testing as standard for treatment cycles unless there are determining factors that suggest further investigation in attempt to ease financial and time investments.

PGT

PGT-A

Preimplantation Genetic Testing (PGT) is a standard testing approach available at most fertility clinics nowadays. The testing uses specialised technology after the IVF/ICSI process to assess embryos or specific genetic conditions which can’t be tested in the parents (egg or sperm) prior to fertilisation.

This testing can help identify embryos with the correct number of chromosomes (PGT-A) or screen for single-gene disorders (PGT-M).

Many embryos, whether conceived naturally or through IVF, can have an abnormal number of chromosomes, known as aneuploidy, even if there is no known personal or family history of genetic issues. Preimplantation Genetic Testing for Aneuploidy (PGT-A) allows us to determine if an embryo has the correct number of chromosomes.

PGT-A might be particularly beneficial in the following situations:

A prior pregnancy was impacted by a chromosomal abnormality
Maternal age is over 35
History of recurrent miscarriages
Multiple embryo transfers that did not result in pregnancy

PGT-M

PGT-M is a similar test that only looks for specific single-gene disorders like Huntington's or breast cancer markers. At a certain stage of embryo development, a small sample of cells is carefully extracted for detailed genetic analysis.

By using PGT-M, you can significantly reduce the likelihood of having a child affected by a genetic disorder that is present in your family.

PGT-M might be recommended in the following cases:

An individual has a personal or family history of a confirmed genetic condition, which poses a risk of passing a serious health issue on to their children.
One or both partners carry a single-gene disorder that could affect the health of a future child, such as spinal muscular atrophy or fragile X syndrome.

It’s important to note that PGT-M cannot test for all genetic conditions, especially when the underlying genetic cause is unknown.

The reason we don’t recommend extra testing as a standard approach for all patients, is two-fold.

Firstly undergoing fertility treatments is a financially draining experience and can cost quite a bit, extra testing can be quite expensive and is only required if there are symptoms ongoing which require further investigation. For example, you wouldn’t purchase car insurance if you don’t have a car just in case you decide to by one later. Experiences and symptoms such as recurrent miscarriages, recurrent implantation failure, ‘older’ egg age, family history of a genetic abnormality or conditions can be criteria that suggest further testing.
Secondly, tests specifically on embryos like PGT panels pose a risk for embryo survival, even on embryos that are otherwise ‘perfect’ specimen. If there is no preexisting condition that suggests further testing, wewould not recommend risking healthy and quality embryos by undergoing extra testing.

Karyotyping

Karyotyping is a test that examines the chromosomes in a person’s cells to identify any structural abnormalities. Chromosomal abnormalities can lead to infertility, recurrent miscarriages, or developmental issues in a child.

This test is generally offered or recommended to patients who are at risk of or have experienced:

Recurrent Miscarriages: If you’ve experienced multiple miscarriages, karyotyping can help identify potential genetic causes.
Failed IVF Cycles: Understanding chromosomal issues may explain previous unsuccessful IVF attempts.
Family History of Genetic Disorders: If you or your partner have a known chromosomal abnormality, karyotyping can be crucial in your fertility journey.

We also recommended patients undergoing donor cycles, egg or sperm, undergo these testing if chosen donors have any concerning genetic markers, to give us a more complete understanding of your panel in reference to the donor specimen. We don’t recommend these types of testing to patients in the initial stages as they are expensive and often not necessary unless the above criteria is met.

Natural Killer Cells

Natural Killer cells (NK cells) are naturally occurring immune cells in our bodies that play a vital role in our body’s defence and immune system. In some cases it has been suggested overactive NK cell response could impact embryo implantation and pregnancy, however there is no conclusive evidence to support this. NK cell testing is a popular option for women who have experience Recurrent Pregnancy Loss or implantation failure and have not received a diagnosis as to why.

At Demeter we do not recommend NK testing to patients as there is no evidence that NK cells or the ‘Immune Protocol’ has impact on pregnancy or IVF, in fact there is research to suggest that Immune Therapy and similar protocols can actually be dangerous for women undergoing fertility treatment. We are however happy to pursue such testing and discuss options, including Immune protocol, if it is important to our patients and we have significant experience in doing so. You can read more about the Immune Protocol here.

Genetic Testing

Aside from all of the above there are further genetic testing options available, including overall cellular wellness tests and biological age tests that can provide extensive insight into the health and wellness of a patients body. The overall health of a patients body is exceptionally important to our fertility and therefor some of these tests are highly recommended as early as an initial appointment.

ERA Testing

Endometrial receptivity Analysis (Emma & Alice test).

ERA tests are used to help determine the window of embryo implantation by attempting to establish the time when your endometrium is receptive. There is currently no research to suggest ERA testing to be effective in increasing implantation rates amongst women in IVF cycles.

ALICE tests (Analysis of Infectious, Chronic Endometritis), is administered to detect pathogenic bacteria in the endometrium, which in turn tries to detect chronic endometriosis without having to undergo an exploratory laparoscopic surgery. The ALICE test has shown to be less effective than a CA125 blood result or laparoscopy.

EMMA tests (Endometrial Microbiome, Metagenomic Analysis) is designed to indicate the endometrial microbiome balance and provide information on proportions of healthy endometrial bacteria, including those linked to higher pregnancy rates. An EMMA test also includes an ALICE.

There is significant information in relation to many ‘add-on’ testing options for patients undergoing fertility treatment. Our specialists are well versed in the literature and experienced in ‘when and if’ these different options are relevant to each individual circumstance.

We recommend becoming familiar with the Human Fertilisation & Embryology Authority (HEFA) recommendations as a trusted source of research and information, as well as articles available in ‘The Lancet’, one of the most established and trusted medical journals in the world. Many medical specialist journals are also trustworthy sources, including ‘News GP’, which is a general practice medical journal and ‘Fertility and Sterility’ which is the Australian fertility journal.

It is important to remember any research or journals you are reading are peer-reviewed in order to be assured of unbiased, trustworthy scientific approaches to research and reporting.

https://www.thelancet.com/journals/eclinm/article/PIIS2589-5370(23)00520-5/fulltext

https://www.hfea.gov.uk/treatments/treatment-add-ons/