The Home of Fertility with Liz Walton & Helen Zee

Genetic Counseling For Fertility a Deep Discussion with Mona Saleh

• Liz Walton and Helen Zee

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We sit down with genetic counsellor Mona Saleh to unpack what genetic counseling really is and why it can be a game changer when you are trying to conceive or navigating IVF. We talk through carrier screening, Fragile X confusion in real-world reports, and how preimplantation genetic testing can support clearer choices and better odds.

• what a genetic counselor is and why the role combines education with psychosocial support
• why family history still matters even with modern genetic testing
• how genetic carrier screening works and what it can reveal without any known family history
• the common conditions discussed in screening like cystic fibrosis, Fragile X syndrome, and spinal muscular atrophy
• a real example of a Fragile X report being misread and how the anxiety gets resolved
• what preimplantation genetic testing is in IVF and how euploid vs aneuploid embryos affect outcomes
• why asking questions early can protect your peace and improve decision-making
• how to find Mona and when to check for in-house clinic genetic counselors

A genetic test result can look like a wall of numbers, and when you are already carrying the emotional weight of IVF or fertility treatment, that uncertainty can hit hard. We’re joined by genetic counsellor Mona Saleh, who has three decades of experience helping people make sense of reproductive genetics with clarity, care, and zero shame for not knowing the jargon. We talk about what genetic counselors actually do, how they translate medical reports, and why that “translator” role can be the difference between panic and a plan. 

We start with the basics that matter most for real life decisions: family history, inherited conditions, and how genetic counseling supports you as a person, not just a lab result. From there we dig into preconception genetic carrier screening, including common conditions like cystic fibrosis, Fragile X syndrome, and spinal muscular atrophy (SMA). Mona explains why carriers are often healthy, how two carriers can face a one in four risk for an affected child, and how informed choice looks different for different families, partners, and donor situations. 

One of the most powerful moments comes from a true story: a Fragile X carrier screening report that was misread because the format was complex, which raised anxiety for both the GP and the patient. Mona walks us through how those reports are structured, how misunderstandings happen, and how a calm, expert conversation can quickly restore perspective and guide next steps. 

We also explore preimplantation genetic testing (PGT) in IVF, including chromosome screening for euploid vs aneuploid embryos, why imbalance becomes more common with age, and how PGT can improve the chance of pregnancy while reducing miscarriage risk. If you’ve been wondering whether testing embryos increases IVF success, what it can and cannot tell you, or how to advocate for yourself with your clinic, you’ll leave with clearer language and better questions.

 Subscribe, share this with someone who needs steadier footing, and leave a review to help more people find support on their fertility journey.

Mona's details

Website: www.dnadownunder.com.au

@DNADownunder on Instagram and Twitter


Welcome And Why Genetics Matters

SPEAKER_02

Welcome to the Home of Fertility, a space for real conversation and expert insights about fertility, healing, and creating family. I'm Liz Watson.

SPEAKER_00

And I'm Helen Z. We are two mums who've walked this path and are passionate about supporting you on your journey, emotionally, physically, and spiritually.

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We talk about it all. Fertility treatment, holistic support, relationships, mindset, and the emotional highs and lows.

SPEAKER_00

Because sometimes the missing piece lies in someone else's story, in the quiet wisdom of the body, or in a breakthrough that's finally made for you.

SPEAKER_02

We are so glad you are here. Let's dive in.

SPEAKER_03

Hello. I'm talking today with the lovely Mona Saleh. Is that how you say it? Sale. Mona?

SPEAKER_01

Yeah, that's fine.

SPEAKER_03

How are you today?

SPEAKER_01

I'm very well. You've got me calm, calming me down just with your lovely, lovely voice.

SPEAKER_03

Well, you're very kind. Thank you so much. And I'm really excited about our conversation because I find genetic counseling, it's like this world that I don't really know much about, and yet it's so potent and powerful on the path of IVF, fertility, and everything else in between. So I'm excited about our conversations today. So I'm first going to introduce who you are so everyone knows who we're chatting with today, and then we can get our

What Genetic Counselors Actually Do

SPEAKER_03

questions answered. So the beautiful Mona, who I am chatting to today, is a genetic counsellor. She has 30 years experience in Australia as well as overseas. She has helped individuals and families navigate the complexity of genetics and regain some autonomy and inform pathways through what can be an extremely difficult decision, and which indeed it is. Her career has included research and has and she has completed her PhD with the University of New South Wales, looking at communication in multicultural settings about genetic conditions. Oh, gosh, awesome. And uh Mona is very passionate about empowering everyone to get the best out of the new technologies whilst remaining informed as well as supported. Because it's a massive subject, isn't it, Mona?

SPEAKER_01

Yeah, it sure is. And particularly in fertility, when there are so many health professionals and support people involved, it can be quite overwhelming that every tiny step you take can be so complicated. Um, so it's a real um honour and privilege to be part of that and hopefully help along one of those steps through my job.

SPEAKER_03

Well, it sounds like you do a lot of supporting and helping. So I think let's start at the beginning. What is a genetic counselor?

SPEAKER_01

Okay, so a genetic counselor uh is a health professional. Um, we're part of the umbrella group called Allied Health, which includes other types of counselors, therapists, occupational therapists, physios, and so on. Um genetic counselors are masters trained, so it's a postgraduate um qualification. And we're also registered and trained through a certification process with the Human Genetics Society of Australasia. So it's a really um wonderful pathway that genetic counsellors go through when they are completing their training. Um, there's exposure to a variety of clinical settings through clinical placements in their training and their on-site learning with um with their certification. Um, so that's in a nutshell what a genetic counselor is. I think the next logical question would be what do we do with all of those skills that we've obtained and achieved? Um, so the role of the genetic counselor in a healthcare team is quite broad, and there are lots of specialized areas where genetic counselors are now focusing on. Um so initially, genetic counselors were very general and mainly in pediatric hospitals. So when a child was born or a couple had a baby with a genetic condition, um, they would talk to the genetics team about what the particular condition could be in that child. So the genetic counselor's role would be in supporting them in understanding that information about the genetic conditions. So, in a way, being the um translator or educator between that medical very medical team, which will obviously care for the person who has the genetic condition and put in um put in place any management or treatment that's needed. And the genetic counselor would be helping the family or the parent and the individual themselves sometimes understand what this means for them, um, find out whether they have psychosocial needs for support, um connecting them with other people who have been through similar situations. Um, genetic counselors really are skilled in doing both the education, so taking that complex information, whatever it might be in a certain situation. I think we're going to talk about some examples which will help translate this for the listeners. Umlate that information for the family, support them through understanding what that information means for them, for their future childbearing, perhaps, or for their um the affected individual if they want to go on and have children themselves. So talking about risks, talking about what supports available, any testing that might be available, um, all those things that come into that uh part of both education and counseling.

SPEAKER_03

Wow. It's it's it's in a way, like you say, it's like that translation, isn't it, of what's the best way to move forward, really? In fertility, what I think is so powerful as you were just saying, you know, when when a baby is born, you're supporting them, but with fertility, it's looking at it before all of that is happened. And I think this is, you know, this is modern technology, isn't it? In the modern age, you know. So what might be some of those scenarios when uh in individuals are on a fertility, or maybe it's just um individual. Um might what they excuse my language, why might they need to talk to a genetic counselor on a fertility path?

SPEAKER_01

Yeah.

Family History And Carrier Screening

SPEAKER_01

So I think for anyone who's looking at um having a baby, whether it's with the partner or on their own, um, often one of the first things that we think about is our family history. So family history is really one of the most pivotal, pivotal um aspects of genetics. So it could be that someone is concerned about a genetic condition in their family. Um, so they may benefit by talking to a genetic counselor, having the genetic counselor look through their genetic their family health history with them and their own health history, um, to chat about what potentially are the risks. Sometimes taking the family history and talking about a genetic condition someone's concerned about can actually be reassuring because if we understand the way that that genetic condition is inherited in the family, it may mean that that particular individual has a very low risk of passing it on to their children. So sometimes we can alleviate risk by understanding family health history. I think for the um parenting journey, one of the main aspects that genetics is now impacting is the more common and um appropriate use of genetic um carrier screening. So that's where many people are offered carrier screening for some very common genetic conditions that are what we call recessive. So we may be carrying them, but we don't have a family history of them. But in in um in the community, it can be common for two people or an egg and a sperm contributor, could both be carriers for the same recessive gene. And then for them, for them, or for that baby, there's a one in four risk of actually having that condition. So the genetic carrier screening is something that is being offered to more and more couples and individuals to test for three of the most common conditions called cystic fibrosis, fragile X syndrome, and spinal muscular atrophy. Um, so a lot of um genetic counsellors are now being asked to talk to those um individuals or couples when they are picked up as carriers for that condition. So finding out what that means for their health and what it means for their potential with their chosen partner or donor.

SPEAKER_03

Yeah, and how powerful is that to have that awareness pre, you know, before maybe uh because uh they can they can make be life-changing, can't they as well? Um definitely, yeah. Make friends, having friends that have those those conversations.

SPEAKER_01

Oh, okay.

SPEAKER_03

It's life-changing. So I have aware, you know, a a lot of my clients that come and see me as well, they will all want to have a genetic um carrier screening, I think, just to, you know, just in case.

SPEAKER_01

I think the important thing is that um there's information available. And so, you know, even people who decide not to have screening, they're making an informed choice and an informed decision. Um, so I think, you know, everybody will respond differently. You've mentioned you've got some lived experience with friends who have had children with those conditions. Other people may not have that lived experience and so may feel differently about carrier screening. Um, and that's really where genetic counseling shines in terms of working with each individual and understanding there's not a one size fits all. This is a a very um unique journey that everybody has. Um, so assimilating all of that information is really important to be focused on that actual individual and and making sure that what they are comfortable with is the way that they move forward.

SPEAKER_03

Absolutely. Every journey is unique and needs to be honored, and having the information means they can make the decisions that are needed and best for them. So I'm curious what examples or do you have case studies that you're able to share where you um know or believe that genetic counseling made a huge impact? What would that mean?

SPEAKER_01

Look, I think at the beginning you said, you know, I'm passionate and I really do feel that my work as a genetic counselor does make an impact for everybody. You know, sometimes I feel for some um people who are referred to me, and in genetic counseling, we often talk about a client because people aren't really patients when they're not sick. They're they're talking about their own life journey and and our genes, which we have no control over. Um, so you know, for some clients, I think, oh, this is just so straightforward. Um, but you know, as I said, exploring how it fits with their beliefs and values and so

The Fragile X Report Mix Up

SPEAKER_01

on can always take us on a very um different path to what I was expecting. But I think one particular client I I feel I recently made an impact with, I feel I actually helped the GP as well. So the GP had received a carrier screening report for one of their ladies. Um and the woman was found to be a carrier for a pre-mutation in Fragilex syndrome. Big words, often something you know, GPs may not have seen before. So they've got this report which has, you know, it says this patient is a pre-mutation carrier, they should talk to a genetic counselor. Um, they're at risk of this impacting their childbearing abilities and may have a child with the full-blown condition of fragile X syndrome, which is a developmental disability syndrome, which affects males and females differently because it's X-Link, but that's a whole different story.

SPEAKER_03

So yes.

SPEAKER_01

So the GP called me because she just Googled, looking for some help to understand the genetic report. Um, and she said, you know, a massive number of repeats. So with Fragile X, you have a number of changes in the gene. And the number she gave me just didn't really make sense, you know, when you're thinking about levels in the gene. And I said, Look, I'm happy to chat to the lady, or I'm happy to just look at the report and help you understand it. Have you, you know, blah, blah, blah. Anyway, she ended up referring the lady, and the number that she was looking at on the report was the gene position number. So in the report, they can be quite complex, where they'll give you the phrase pre-mutation carrier, but then in the actual gene description, there'll be numbers and abbreviations that if you're not used to looking at those genetic reports, it can be interpreted incorrectly. So the GP understood that the numbers in the gene mattered because we're talking about this condition fragile X, where we're looking at a level number. Um, but the number they'd looked at was the actual description of the gene position number. So it wasn't the right number to look at. So seeing that patient was really um empowering. And I then went back to the GP and offered some training for their clinic because she runs a medical center, because she had gotten quite anxious on behalf of the patient. And I think the patient then picked up on that anxiety because of that misinterpretation of that result.

SPEAKER_04

Yeah.

SPEAKER_01

Um, so that was really powerful for me because I was able to reassure the patient, and she went on to have another test which could help clarify a bit more specifically what her risk is. Um, so we were able to go through all of that, and I explained, you know, the doctor didn't get it, you know, wasn't making a mistake because they, you know, are doing the wrong thing. It is very easy to misinterpret some of these complex reports. Um, and then the GP took me up on coming in just to their monthly clinic meeting, and all the clinic nurses came in, and I just gave a little 10-minute update on um fragile X testing and what does the result mean and how do you read the reports? And so I think that it was really good because um genetic counseling, as I said to you, is about education, and a lot of my career has been in educating health professionals who are not used to this new technology. Um, so that for me was like a full, well-rounded interaction. You know, I got to help the health professional perhaps um next time be a bit more empowered and informed so they feel more confident. Um, and then also I was able to take the patient through their journey of discovering what this meant for them and their potential.

SPEAKER_03

Yeah, no, awesome. I think that sounds really powerful. And how wonderful for the doctor to realize, you know, I need to search to have some support here to understand, helps the client, um, beautiful lady, as well as then empowering the rest of her clinic staff.

SPEAKER_01

You know, you don't you don't know what you don't know until exactly, exactly, yeah, yeah. And doctors are human, um, and they're dealing with so many different complex things. So genetics can be often seen as a bit daunting.

SPEAKER_04

Yeah.

SPEAKER_01

Um, so I think a big part of a genetic counselor's role is also to support um doctors who aren't used to um dealing with these sorts of um situations, yeah.

SPEAKER_03

Yeah, yeah, yeah. No, absolutely. And so I'm curious also on the word that you said, pre-implantation. So what is

Preimplantation Genetic Testing Basics

SPEAKER_03

a pre-implantation genetic diagnosis? There's a lot of words there.

SPEAKER_01

What is yeah? I actually said pre-mutation when I was talking about fragile X, but pre-implantation genetic diagnosis is also a thing, but it's not specific to fragile X. So I'll just clarify that.

SPEAKER_03

So pre-mutation, because this is me with lots of words. That's okay.

SPEAKER_01

And that's exactly what I mean, because it's not something you do every day, whereas I do, and so do all other genetic counselors. So pre-mutation is specifically a term that we use in fragile X, and it's referring to an intermediate level of those numbers that I was referring to. So it's not a full-blown mutation, it's a pre-mutation. So we can pack that one away now, and we'll move on to the pre-implantation genetic testing or diagnosis. So, what that is, is when uh a baby is being born through IVF or being or attempting to be born through IVF, um individuals may choose to have testing of the embryos to check whether they are carrying a genetic condition that they may have in in their family or at risk of passing on to their children, or they can test the embryos for chromosome changes. So chromosome changes are imbalances in the number of chromosomes that an embryo may have. Usually we have 46 chromosomes, and we talk about that being euploid, so that's a word that you'd hear. So 46 is the right balance of chromosomes. Um, so if you have anything extra or missing, it's called aneuploid. And so pre-implantation genetic testing or PGT is able to take a few cells from a developing embryo and check for whether the chromosomes are balanced. Um and we know that there are significant numbers of embryos that have imbalanced chromosomes, particularly as the egg contributor or the mum gets older, that risk of having unbalanced chromosomes gets higher.

SPEAKER_03

Right.

SPEAKER_01

Yeah.

SPEAKER_03

Wow, and I'm taking back my memory. Um this is reminding me, so when I was pregnant with my daughter, which I didn't know was a daughter at the time, because they told me that um my daughter wouldn't be viable because at the time she had too much fluid at around her net. And yes, hopefully I've got the wording right. The neutral translucency? Yeah. The nucleal translucency was okay. So because of my age, because I was 45 at the time and I had my answer at 46, they were looking at at you know, down syndromes or a chromosomal chromosome in imbalance. Imbalance, yeah. And so I'm remembering my shock, my you know, didn't understand what does that mean. And um, yeah, so that was you know, so this is the memory that it's bringing up of, you know, wow, and you know, it's changed even since then, because now she's 10, and just how important this information is, as you were saying, as an educator and as a translator, because it was a lot of emotion, not understanding, trying to fight back tears and understand what was going on when you know I was pregnant and what's going on.

SPEAKER_01

So it's absolutely and I can imagine, you know, for people who are on that fertility journey, it's almost as if uh Okay, we're pregnant, we can relax now, but then hang on, you've got to wait till you know you do the 12 weeks. Oh, okay, that was clear. We did we did the ultrasound and now we can relax. But you know, it it's it's really, really tough, I think. Those pregnancies are so, so precious. All pregnancies are precious, but I nobody can deny that you know, if people are having fertility issues and going through so many challenges to get pregnant, it's definitely a huge layer on top of you know what is already a miracle.

SPEAKER_03

Absolutely. And there's already those insights of stress, and you know, it's there's another layer that's already happening. Absolutely. Absolutely, yeah, of deep emotional things, um, all sorts of things on the fertility journey. So my curiosity is please shed

IVF Success Rates And Embryo Choice

SPEAKER_03

a light on. So how does then this pre-implantation genetic testing does that increase the success of IVF?

SPEAKER_01

Yeah, absolutely it does. It um it means that if we're testing, say, 10 embryos from um that have been created for a parent or parents, um, and we find that you know six of them have the balanced chromosomes and four of them have an imbalance, we can choose those balanced embryos to transfer them and try and get pregnant. So you've eliminated that risk of going through the transfer process and finding out later or perhaps you know later in the pregnancy. We know that those unbalanced embryos are less likely to lead to pregnancy. So you're more likely to get pregnant if a balanced embryo is transferred, um, and it's uh less chance of having a miscarriage as well.

SPEAKER_03

Yeah. Wow, that's very powerful.

SPEAKER_01

Absolutely, absolutely. But it is complex and not you don't have to be um at risk of a genetic condition to opt into having pre-implantation genetic testing. Um, fertility specialists will uh be able to offer it to any couple. Um, but it is really powerful, particularly when the egg contributor or the mother is um is older, so over 35 or 40, because we know that there's a significantly high chance of those unbalanced embryos.

SPEAKER_03

Yeah. Wow.

SPEAKER_01

So it's it's a double-edged sword. You've you know you're getting a little bit older, so you're more like less likely to have balanced embryos, but you're also getting older, so you want to get pregnant sooner rather than later. So it's it's very empowering to have that um tool, I think, particularly for older, older eggs.

SPEAKER_03

Awesome, yeah, because then it means, um, from what I can understand, is you're then got the option to actually have the best egg for you that's going to, you know, have a positive outcome. Um, and that means then instead of going through some IVFs that may not work, you're actually going through one that has the highest possibility to work.

SPEAKER_01

Yeah, I guess it's something that you have checked. You know, you've you've ticked that box, we've got the balanced chromosomes. We can't say that everything else about that embryo is perfect. You know, often the embryologists, even you know, if you have two or three balanced embryos to choose from, the specialist embryologists will say, well, this one looks better than that one, even though they've both got balanced chromosomes. There are other signs and signals as the embryos are developing microscopically that the embryo, embryology and fertility team will take into account as well. So all of that is part of the shared goal of giving you the best chance of having a successful pregnancy.

SPEAKER_03

Yeah, and that's awesome, isn't it? Wow. And what a beautiful job to have. And you know, you're reading all this information.

SPEAKER_01

No, it is it's a wonderful area to work in. I'm very lucky.

SPEAKER_03

Yeah. Oh, well done you. So what else? Um, as we sort of finished our conversation, what would be like a top tip or advice that we would need to leave this conversation with?

Ask Better Questions And Get Support

SPEAKER_01

I think, you know, having worked with a lot of people going through fertility treatment, I think the best advice is ask the questions. You are worthy, and your goal of being a loving parent is so worthy of getting the best support, getting the best information, finding out how to look after yourself so that you obtain um the best possible chance of um becoming a parent if that is something that you wish to do. So the best advice is just ask, uh, reach out to people. Um the worst thing they could say is, I can't help you, but you'll feel better for asking and it you're worth you're worth the the trouble. You know, I think often, you know, many people I know who are going through fertility, they're already acting like parents because they're they're so giving, they're so, you know, um wanting to do the best by the their body and looking after and caring for their body to try and give them the best chance of getting pregnant. So that to me is already a part of being, you know, a great skill of parenthood, of you know, wanting to give that baby the best chance. So I know that this, you know, everybody I talk to will be great parents, hopefully, one day.

SPEAKER_03

Yes, no, absolutely. It's you know, the gift of the fertility journey is this we learn so much. Yeah, there's a lot of beautiful um nuggets that we can learn so much from. So, Mona, how can people find you to work with you and ask those questions from you?

SPEAKER_01

Sure. How do we find you? Yeah, so I work independently as a clinician. So my website is www.dna downunder.com.au and on there there is a referral button. So you can refer yourself. There's no need to have a doctor's referral or your health provider can fill that form out or contact me via email on that website. But having said that, if you are going through a fertility company, check that they don't have in-house genetic counselors because sometimes fertility teams will include a genetic counselor as part of their service.

SPEAKER_04

Right.

SPEAKER_01

Um, so check before, and if they don't, then I'd love to hear from you and help you if I can.

SPEAKER_03

Awesome. And I'll make sure that that's in the show notes as well so everyone can find that. Thank you. Um, Mona, it's been an absolute pleasure to chat with you today and to learn about genetic counseling and just the power that it has to support people to understand their choices.

SPEAKER_01

Thanks, Liz. It's been a real pleasure talking to you as well. And um, thank you so much for inviting me on the on the podcast.

SPEAKER_03

Oh my goodness. Uh for me, the pleasure is always mine. I get to learn so much and meet some of the most amazing people like yourself. So thank you. And um, with that, I am very grateful for your chat today. And I want to say um, wishing everybody remember to ask those questions because you are worthy for you to get the best choices that are for you. And with that, I will bid thee goodbye with love and blessings to everybody. Thank you, Mona. Thank you, Niz.

How To Connect And Final Thoughts

SPEAKER_00

Thanks for joining us at the Homer Fertility. We hope today's episode brought you clarity, comfort, and connection.

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If this podcast resonated, please share it. Leave a review or subscribe. This helps us support more people that are on this path.

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And if you'd like to connect or share your story, find us on Instagram and Facebook at Australian Fertility Summit.

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Remember the missing piece might be waiting in a story, your body's wisdom, or something new just made for you. Take care and we'll see you next time.