What is embryo screening and is it right for me?

Written by Dr Fleur Cattrall
06 Oct

One significant development in assisted reproductive technology (ART) in the last 25 years is our ability to remove cells from a developing embryo and perform genetic testing. The procedure is termed preimplantation genetic screening or preimplantation genetic diagnosis depending on its application.

As technology has improved we have seen the use of PGS and PGD in IVF rise, with the latest Australia and New Zealand Assisted Reproductive Treatment Database (ANZARD) reporting a 20% increase.

embryo screening

What is Preimplantation genetic screening?

Preimplantation genetic screening (PGS) or ‘embryo screening’ is a method where embryos from presumed chromosomally normal genetic parents are screened for abnormalities. It involves screening all 24 chromosomes in a developing embryo to select the embryo/s without any chromosomal errors that is most likely to result in an ongoing pregnancy.

PGS is an evolving technique that is now recognised more arguably as a way to improve pregnancy rates in women experiencing repeated IVF failure and recurrent miscarriage.

What is Preimplantation genetic diagnosis?

At this stage of medical science we are not able to routinely ‘screen’ embryos for faults in the 20,000 or so genes located on our 23 pairs of chromosomes. Therefore we cannot tell if an embryo is destined to develop a particular genetically inherited condition unless we are specifically looking for it. This is known as Preimplantation genetic diagnosis - PGD for short. Some couples may require this when there is a known genetic condition that runs in their family, such as Huntington’s disease, Cystic fibrosis, Thalassaemia and Fragile-X.

How is PGS & PGD performed?

Both PGS & PGD involve taking cells from a developing embryo usually at the day 5 (blastocyst) stage. This step is called an embryo biopsy. The biopsied cells are then tested to assess the embryo and health of any potential baby. The embryos are frozen whilst we wait for the results. The embryo then determined to either have no chromosomal errors (PGS) or be of low risk for the genetic condition we are testing for (PGD) is transferred back into the woman’s uterus.

Embryo selection in an IVF cycle

During an IVF cycle, selecting an embryo for transfer has traditionally been based on appearance alone, called morphology.  A ranking of which embryo is likely to result in a baby, based on an appropriate number of cell divisions at a given time is established. Then, each month, the next best embryo is transferred into the woman’s uterus. Unfortunately, many embryos do not result in a baby. The reasons for this are mostly related to genetic factors of the embryo and not the uterine environment.

What causes an embryo transfer to fail?

There are many reasons the transfer of an embryo does not lead to an ongoing pregnancy. An important requirement for an embryo is that it is genetically normal and has 23 pairs of chromosomes, which are labelled 1 to 22. There are also 2 sex chromosomes, XX (female) or XY (male).

Sometimes an embryo can have an extra chromosome, such as three copies of chromosome 21, which we call trisomy 21. This embryo would be destined to have Down syndrome. If an embryo is missing a chromosome, for example chromosome 4, we call this monosomy 4. These major structural errors, also called aneuploidy, commonly lead to a negative pregnancy test or result in miscarriage.

How common is it for an embryo to be genetically abnormal?

We know that approximately 30% of embryos from women aged 30 have genetic errors and this rises to 80% of their embryos at the age of 40. The reason for this is due to the ageing process that inevitably occurs in the egg. 

Women are born with all the eggs they will ever have and as a woman’s eggs get older, these errors become more frequent. Unfortunately, even the best embryos based on their appearance can have these errors. The result is that most of these embryos when transferred will result in a negative pregnancy test or miscarriage. This is largely the reason that the chance of pregnancy declines as women get older. The chance of miscarriage also increases for the same reason. At 30 years, 1 in 6 pregnancies end in miscarriage. At 40 years, this has risen to 1 in 3 pregnancies.

How can embryo screening increase pregnancy rates?

When we identify and exclude abnormal embryos from transfer, the likelihood is that the time to achieve an ongoing pregnancy will be reduced. Fewer procedures and less dreaded two week waits make IVF treatment easier.

It’s important to remember that transferring an embryo without genetic errors does not guarantee a pregnancy. An embryo must also be normal in other ways that we cannot test for.

Who could benefit from embryo screening?

Women recognised to benefit from embryo screening are those experiencing recurrent miscarriage or implantation failure. There is also increasing evidence to support the use of embryo screening for women 38 years and older. 

Since the embryo screening process involves comparing embryos to see which one is more likely to lead to a successful pregnancy, it is more appropriate for couples that have more than two day five (blastocyst) embryos.

What can I do next?

If you have questions about PGS or PGD, consult a fertility specialist. They will be able to advise whether the technique is appropriate for your situation and answer any questions you might have.

Read more about PGS at Virtus Health:  Victoria»  New South Wales»  Queensland»  Singapore»

 

Contact

Make an enquiry

Share this article


We hope this article was informative and useful to you. If you have any questions or feedback, feel free to get in touch at [email protected].



Related Articles

IVF & embryo donation – the gift of a family

With Sofia Vergara, star of the hit TV show Modern Family, reportedly in a battle with her ex-fiancé over the rights to frozen embryos they created while together, the press attention around her situation has thrown issues surrounding stored embryos into the spotlight. A much more common situation, for couples who have had IVF treatment, is deciding what to do with excess frozen embryos after they have completed their family.

For many families, IVF is a life-changing experience – one that helps them realise the dream of a having a baby. As an obstetrician and a mother, I know just how much joy a child can bring to a family, conversely, I know the heartache that comes with not being able to conceive. With Mother’s Day approaching, now is the perfect time for couples with frozen embryos who have completed their family, to consider giving another family struggling to conceive the greatest gift of all.

Why are there embryos left over after an IVF cycle?

Today, about 1 in 23 children in Australia are born as a result of IVF and other assisted reproductive technologies. With IVF success rates continuing to rise, and with treatment becoming considerably more accessible, more couples than ever before are undergoing IVF for a number of medical and social reasons.

An IVF cycle involves a number of eggs being surgically collected from the female partner and fertilised with the male partner’s sperm, before being transferred back into the woman in the hope that she achieves a successful pregnancy and birth. Any remaining embryos are then frozen, allowing for future chances at pregnancy. If the couple have embryos left over after they have completed their family, they are then faced with the dilemma of what to do with those frozen embryos.

What are the options for excess embryos?

The length of time people can store their embryos varies from state to state in Australia, from 5 to 10 years. After that time, the biological mother and father of those embryos must make a decision about what do next – generally this involves donation for research1 or disposal of the embryos.

However, there is another option – donation of the embryos to another family.

Having overcome infertility and the fear they might never have a family, couples with excess embryos have a greater understanding and appreciation than most of just how generous the act of donating their embryos to another couple could be.

Embryo donation does come with complex emotional and psychological implications, so it’s a decision that involves a lot of consideration and counselling. Couples are often concerned about the welfare of the future children born from donated embryos, and consider how they will tell their own children.

What is the process for embryo donation?

If donating stored embryos is something you would like to consider, there are options. You can become a donor for someone you know – a friend, family member, or someone you know through personal networks that might be having trouble conceiving. Alternatively, many fertility clinics (including Queensland Fertility Group, IVF Australia, Melbourne IVF and TasIVF) offer a confidential donor service. It’s worth being aware that generally you cannot donate embryos to another family if they have been created using donor sperm or eggs2. If you are interested in donating your excess embryos, I recommend that you speak to your fertility clinic initially, to find out more about the process, criteria and what counselling and support is offered.

It’s an emotional decision – one that’s full of complexities – but wouldn’t it be an amazing feeling to know you’ve helped one more mother’s dream come true next Mother’s Day?

Find out more:

Embryo Donation in Queensland  
Embryo Donation in NSW  
Embryo Donation in Victoria  
Embryo Donation in Tasmania   
 

1 Research in Australia using human embryos and stem cells is governed by strict guidelines and reviewed by various ethics committees and regulatory bodies. Embryo donation for research purposes may not be available for embryos created from donated gametes or for QFG patients.

2 At Melbourne IVF, embryos that have been created using donor eggs and/or sperm may be donated to another person or couple, although only after ethics committee approval has been obtained. 

What is embryo screening and is it right for me?

One significant development in assisted reproductive technology (ART) in the last 25 years is our ability to remove cells from a developing embryo and perform genetic testing. The procedure is termed preimplantation genetic screening or preimplantation genetic diagnosis depending on its application.

As technology has improved we have seen the use of PGS and PGD in IVF rise, with the latest Australia and New Zealand Assisted Reproductive Treatment Database (ANZARD) reporting a 20% increase.

embryo screening

What is Preimplantation genetic screening?

Preimplantation genetic screening (PGS) or ‘embryo screening’ is a method where embryos from presumed chromosomally normal genetic parents are screened for abnormalities. It involves screening all 24 chromosomes in a developing embryo to select the embryo/s without any chromosomal errors that is most likely to result in an ongoing pregnancy.

PGS is an evolving technique that is now recognised more arguably as a way to improve pregnancy rates in women experiencing repeated IVF failure and recurrent miscarriage.

What is Preimplantation genetic diagnosis?

At this stage of medical science we are not able to routinely ‘screen’ embryos for faults in the 20,000 or so genes located on our 23 pairs of chromosomes. Therefore we cannot tell if an embryo is destined to develop a particular genetically inherited condition unless we are specifically looking for it. This is known as Preimplantation genetic diagnosis - PGD for short. Some couples may require this when there is a known genetic condition that runs in their family, such as Huntington’s disease, Cystic fibrosis, Thalassaemia and Fragile-X.

How is PGS & PGD performed?

Both PGS & PGD involve taking cells from a developing embryo usually at the day 5 (blastocyst) stage. This step is called an embryo biopsy. The biopsied cells are then tested to assess the embryo and health of any potential baby. The embryos are frozen whilst we wait for the results. The embryo then determined to either have no chromosomal errors (PGS) or be of low risk for the genetic condition we are testing for (PGD) is transferred back into the woman’s uterus.

Embryo selection in an IVF cycle

During an IVF cycle, selecting an embryo for transfer has traditionally been based on appearance alone, called morphology.  A ranking of which embryo is likely to result in a baby, based on an appropriate number of cell divisions at a given time is established. Then, each month, the next best embryo is transferred into the woman’s uterus. Unfortunately, many embryos do not result in a baby. The reasons for this are mostly related to genetic factors of the embryo and not the uterine environment.

What causes an embryo transfer to fail?

There are many reasons the transfer of an embryo does not lead to an ongoing pregnancy. An important requirement for an embryo is that it is genetically normal and has 23 pairs of chromosomes, which are labelled 1 to 22. There are also 2 sex chromosomes, XX (female) or XY (male).

Sometimes an embryo can have an extra chromosome, such as three copies of chromosome 21, which we call trisomy 21. This embryo would be destined to have Down syndrome. If an embryo is missing a chromosome, for example chromosome 4, we call this monosomy 4. These major structural errors, also called aneuploidy, commonly lead to a negative pregnancy test or result in miscarriage.

How common is it for an embryo to be genetically abnormal?

We know that approximately 30% of embryos from women aged 30 have genetic errors and this rises to 80% of their embryos at the age of 40. The reason for this is due to the ageing process that inevitably occurs in the egg. 

Women are born with all the eggs they will ever have and as a woman’s eggs get older, these errors become more frequent. Unfortunately, even the best embryos based on their appearance can have these errors. The result is that most of these embryos when transferred will result in a negative pregnancy test or miscarriage. This is largely the reason that the chance of pregnancy declines as women get older. The chance of miscarriage also increases for the same reason. At 30 years, 1 in 6 pregnancies end in miscarriage. At 40 years, this has risen to 1 in 3 pregnancies.

How can embryo screening increase pregnancy rates?

When we identify and exclude abnormal embryos from transfer, the likelihood is that the time to achieve an ongoing pregnancy will be reduced. Fewer procedures and less dreaded two week waits make IVF treatment easier.

It’s important to remember that transferring an embryo without genetic errors does not guarantee a pregnancy. An embryo must also be normal in other ways that we cannot test for.

Who could benefit from embryo screening?

Women recognised to benefit from embryo screening are those experiencing recurrent miscarriage or implantation failure. There is also increasing evidence to support the use of embryo screening for women 38 years and older. 

Since the embryo screening process involves comparing embryos to see which one is more likely to lead to a successful pregnancy, it is more appropriate for couples that have more than two day five (blastocyst) embryos.

What can I do next?

If you have questions about PGS or PGD, consult a fertility specialist. They will be able to advise whether the technique is appropriate for your situation and answer any questions you might have.

Read more about PGS at Virtus Health:  Victoria»  New South Wales»  Queensland»  Singapore»

 

Taking a pregnancy test and the tell-tale signs you’re expecting

When you are trying to become pregnant, there can be a lot of anxiety around knowing when to take a pregnancy test.

Furthermore, if you have been trying for some time, you are no doubt aware that if you take the test too early, the test may be negative, even if you are pregnant. So, what advice do I give women?

pregnancy test

Understand how pregnancy tests work

Pregnancy tests calculate detect a hormone called human chorionic gonadotropin (hCG) through your urine or blood.

The hCG is produced after the embryo implants into the endometrium, usually on or around the 6th day after the sperm and egg fertilise. This is why home pregnancy tests will not pick up any hCG if you take the test too early, even if you are pregnant.

When should I take a home pregnancy test?

If you want to circumvent false ‘negatives’ or ‘positives’, the best time to take a pregnancy test is after your period is late. Whilst it can be tough if you’re anxious to find out whether you’re pregnant, allowing at least a week before testing after your missed period will give you a higher degree of accuracy when taking a pregnancy test, as hCG levels rise rapidly in pregnant women.

If you do not chart your cycles or your cycle is irregular, take the test after you have past the longest menstrual cycle you usually have.

Common pitfalls to avoid when taking a pregnancy test


Taking a pregnancy test too early

Many women will not get a positive pregnancy test result on the day they think is just after their missed menstrual period, even if they are pregnant, because they are testing too early.

Understanding your menstrual cycle and ensuring your period is late is important to avoid any unnecessary disappointment.

Testing too often

If you think you are pregnant and receive a negative result it’s difficult to stop yourself from wanting to test again that day or even the next. If the test is negative, try to wait at least two to three days before you retest to avoid further disappointment. 

Follow instructions carefully

If you are using a home pregnancy test, it is important to read and follow the instructions carefully. Specifics vary for different tests including collection methods, length of time you need to urinate on the stick for and the symbols used to indicate whether you are pregnant or not.

What if you are not sure about the result?

Blood tests can be done with your GP or a fertility specialist to measure the specific level of hCG in your blood.
With a blood test, we can detect very low levels of hCG that may be helpful to diagnose pregnancy and evaluate any problems during early pregnancy, such as an ectopic pregnancy or to monitor women after a miscarriage.

Pregnancy testing during IVF

If you are seeing a fertility specialist and undertaking IVF, listen to the advice from your doctor and nurses to wait until your blood test two weeks after embryo transfer.
 
We know the two week wait is hard, though some of the drugs we use in an IVF cycle contain hCG that can produce a false ‘positive’ if you test too early, which is why it is best to wait until the day of your scheduled blood test at your fertility clinic.

What are the common symptoms of early pregnancy?

If you are unsure about whether you should take a pregnancy test and find yourself wondering about some of the signs to look out for in the very early stages of pregnancy these usually include the following. Be aware, however, that not all women experience classical pregnancy symptoms and that their presence or absence is not an indicator of the viability or health of the pregnancy.

Breast tenderness

In the early stages of pregnancy, your breasts may become quite tender, swollen and start to enlarge. This is the most common and normal change to occur because of your elevating hormone levels and the implantation of the embryo.

Tiredness

It is very common to feel sluggish and overwhelming tired during the first twelve weeks of pregnancy as your body is going through significant hormonal changes to adjust to the pregnancy.

Nausea & vomiting

Some women experience nausea and vomiting as early as one week into their pregnancy. Some experience illness in the morning and others in the afternoon or continuously throughout the day.

It is important to remember that everyone is different; some women may not experience any nausea, whilst for others it can continue up to thirteen weeks and beyond.

What if I am having trouble getting pregnant?

If you are concerned about your fertility, or have been trying unsuccessfully to conceive for six months or more speak with your GP.

Your GP can perform a basic assessment including ovulation and hormone testing, and pelvic ultrasound examination for you, and a semen analysis for partner, to determine why you may be experiencing pregnancy delay. They can then recommend referral to a fertility specialist for further investigation if required.

Read more about Planning for Pregnancy:

Melbourne IVF, Queensland Fertility Group, IVFAustralia, TasIVF, Virtus Fertility Centre Singapore

Receive our quarterly e-news with free advice from the fertility experts.