“We’re so, so happy and so pleased with her and quite excited to get going for round two soon.”
As new mum Tayla Smith speaks to Women’s Agenda, you can hear her baby Helena cooing in the background.
A heartwarming reminder that the journey she took was well worth it.
With preparations underway for Helena’s first birthday, Tayla is filled with excitement for the journey ahead.
Supplied: Tayla Smith says PGT allowed her to feel empowered in the path to parenthood
But life with a baby and her partner didn’t seem so joyful at one point.
Tayla lives with Osteogenesis Imperfecta (Type 4), an inherited bone disorder that’s commonly known as brittle bone disease.
“It’s a dominant condition with a dominant gene,” says Tayla.
“So if I was to have my own children naturally, it’s a 50-50 chance of me passing on the disease to my child.
“My type of osteogenesis, it’s more on the moderate side, so I don’t personally live a drastically unusual life – I can drive a car, I cook and clean and all that fun stuff.
“There’s a few little things that I have to do differently like I walk with orthotics on my feet and I’m very short so to reach up high I’ve got little gadgets to do all that.
“I don’t have a lot of limitations, but that doesn’t mean that my child wouldn’t. So if my child inherited what I have, they could quite easily have one of the more severe types. And with this particular condition, it can be fatal.”
Supplied: Tayla and her husband were worried about passing on their conditions.
In addition to this, Tayla’s husband lives with cystic fibrosis, an inherited condition that damages the lungs, digestive system and other organs.
“That’s why there was no question that we wanted to go down the PGT route when we discussed starting a family,” she says.
Preimplantation Genetic Testing (PGT) is an advanced technique used to test embryos created through IVF for gene disorders or chromosomal changes.
Genea can design a test specific to the patient’s conditions and this then allows the fertility team to select embryos that are unaffected.
Tayla and her husband were referred by their GP to Genea.
Supplied: Tayla is looking forward to baby number two thanks to genetic testing.
After meeting with genetic counsellors and the geneticist they were referred on to a Genea Fertility Specialist to design a personalised treatment plan. Tayla and her husband’s sperm and eggs were then collected to create three embryos.
Of the three, one was found to be genetically viable.
“That turned into our daughter Helena: she was our lucky special one.”
How genetic testing can empower the path to parenthood
Genea Fertility Specialist Dr Rose McDonnell says genetic testing is helping to open doors for hopeful parents.
“Non-invasive prenatal testing during pregnancy is very much commonplace and a lot more affordable now,” she says.
Other reproductive carrier screening options prior to pregnancy are also more accessible.
“It’s fantastic that the three-panel reproductive carrier screening is now Medicare-rebated,” says Dr McDonnell.
“The test looks for the three most common inherited conditions – Cystic Fibrosis, Spinal Muscular Atrophy, and Fragile X Syndrome – and can identify if someone is a carrier of a condition that could affect their future child. People often really value having that knowledge, and we’re fortunate to have excellent genetic counsellors who can guide them through options, including preimplantation genetic testing during IVF, if needed.”
Dr McDonnell says genetic testing can also help determine what’s behind miscarriages.
“We know that testing embryos can reduce miscarriage and shorten the time to pregnancy,” she says.
“For those with a history of recurrent miscarriage, checking embryos for chromosomal issues can provide important answers and help in understanding why miscarriages have happened, especially after such a difficult journey.”
Dr McDonnell says trusted fertility specialists such as those at Genea can use various tests to help patients get to the root of issues with having a baby.
“In about half of couples who struggle to conceive, we don’t find an obvious reason,” she says.
“Often the woman is ovulating, the sperm is normal, and all the standard tests come back fine. In these cases, IVF can sometimes be an option, and it helps to demystify what that involves. Lifestyle and age also play a big role, as eggs and sperm become less healthy over time, increasing the risk of miscarriage and delaying pregnancy.
“The main benefit of testing embryos for chromosomal abnormalities is that it can shorten the time to achieving a successful pregnancy or live birth. For women over 35, up to half of embryos may have the wrong number of chromosomes. This usually results in failed implantation or early miscarriage, though in some cases it can progress to conditions such as Trisomy 21, better known as Down Syndrome.”
Preimplantation Genetic Testing can be useful for patients who wish to test for genetic conditions that can increase with age to increase the chance of placing an embryo in the uterus that has no abnormality detected. This can be reassuring for patients at that stage in their fertility journey knowing that their chance of pregnancy is improved and their risk of miscarriage is lower. If a pregnancy occurs non-invasive prenatal testing at 10 weeks is still advised.
Dr McDonnell says decisions around genetic testing will vary from person to person.
“Everybody comes with their own unique ethical, social and moral opinions,” she says.
“Some people have the opinion that if we fell pregnant up until now, then we wouldn’t have had the opportunity to screen an embryo and it is what it is. Others want to test for every possible risk. These perspectives are often shaped by a couple’s life experiences or family health history.”
How far genetic testing has come and where it’s going
Dr McDonnell says advancements over the past ten years have led to a better understanding of genetic anomalies and how to prevent them.
“At Genea we can test the karyotype of each patient and we offer genetic screening of the parents-to-be” says Dr McDonnell.
“Occasionally we detect a translocation in one of the parents. This means a piece of one chromosome has attached to another. While it usually doesn’t cause problems for the parent, however when combined with the other parent’s DNA the embryo can become unbalanced – for example, having part of chromosome 12 attached to chromosome 3. In these cases, couples may experience recurrent miscarriage or difficulty conceiving at all.”
She says using artificial intelligence in the embryo selection process is another exciting area.
“Having a look at the metabolic activity of the embryos to determine whether or not they’re behaving like a normal embryo is another area of development at the moment,” she says.
“And a little bit more controversial would be looking at polygenic embryo screening – this is where you’re trying to assess the risk of complex conditions influenced by lots of genes like cardiac issues or heart disease and diabetes for example”.
“We all carry genetic trademarks from our families, so the question then arises as to whether we would deselect an embryo on the basis of its chance of developing diabetes for example.”
There are obvious ethical and societal implications for deselecting an embryo on the basis of its chance of developing a condition in this sense so this is an area of research interest and not in mainstream use.
“While the options can feel overwhelming, your fertility specialist will guide you through what’s recommended for your situation, and whether certain tests could help improve your chance of having a healthy baby like Helena.
“There’s no single ‘right’ path – what matters is having the time, information, and support to make choices you feel comfortable with along your journey to parenthood.”