Speaker 1: So, Patty, we haven't done this for ages, but I
Speaker 1: wanted to start by talking about a DM that we
Speaker 1: got from a listener. Nice YEP, I'm going to read
Speaker 1: it out. I would just like to reach out and
Speaker 1: thank you so much for your podcast. I started listening
Speaker 1: to you guys throughout my entire pregnancy to educate and
Speaker 1: prepare myself as a first time mum. I'm so glad
Speaker 1: I did, because I ended up having a traumatic birth,
Speaker 1: including an induction, an incredibly fast labor less than one
Speaker 1: point five hours, the baby's heart rate dropping to sixty
Speaker 1: beats per minute, and a pisiotomy, forceps, shouldered destotia three
Speaker 1: B tier, and hemorrhaging not only during labor, but also
Speaker 1: two weeks postpartum.
Speaker 2: WHOA.
Speaker 1: The knowledge I learned from your podcast allowed me to
Speaker 1: understand what was happening during such a fast paced, scary
Speaker 1: moment of my life where decisions had to be made quickly.
Speaker 1: It allowed me to focus on the situation and remain
Speaker 1: as calm as I could in a time where I
Speaker 1: easily could have spiraled out of control. Bubs and I
Speaker 1: are now three mons postpartum and can happily report neither
Speaker 1: of us have had any long term problems as a
Speaker 1: result of the birth, and I'm now enjoying this new
Speaker 1: phase of my life. Thank you and a big heart.
Speaker 1: That is just incredible, isn't it.
Speaker 2: Yeah? Thanks for getting in touch.
Speaker 1: I know, and like, I'm sorry that that was just
Speaker 1: a traumatic birth that had pretty much everything. It was
Speaker 1: one with the lot. I just wanted to unpack one
Speaker 1: thing and that is three B tier. Yeah, yep, and
Speaker 1: hemorrhaging not only during labor but also two weeks postpartum. Yeah.
Speaker 2: So it just went on and on, isn't it, These complications,
Speaker 2: and it's hard to know exactly you know, what the
Speaker 2: details are behind those things, but there's certainly things that
Speaker 2: we discuss in our podcast and in our program with
Speaker 2: the idea being that these are hopefully not going to
Speaker 2: happen to you, but if they do, knowledge about those
Speaker 2: things and some awareness of those things is surely going
Speaker 2: to be beneficial.
Speaker 1: Yeah. So I really wanted to bring this to everybody's
Speaker 1: attention because you know this, these are some things that
Speaker 1: can happen in birth. So the more knowledge you have,
Speaker 1: I think it has an impact on how calm it
Speaker 1: can be if you actually know what's going to be
Speaker 1: coming and how you can deal with it and what
Speaker 1: decisions to make. Absolutely, so thanks so much for giving
Speaker 1: us this DM. Welcome to the kick Your Expert led podcast,
Speaker 1: helping you explore and learn everything about getting pregnancy, birth,
Speaker 1: and becoming a parent.
Speaker 3: On the podcast and our online pregnancy program grow My Baby,
Speaker 3: we share my experience of helping more than four thousand
Speaker 3: babies to be.
Speaker 1: Born and our experience of running a women's health clinic
Speaker 1: and parenting for boys.
Speaker 3: We're here to help everyone to feel empowered in pregnancy
Speaker 3: and birth with real life, practical information. Hi.
Speaker 1: Everyone, Well, before we start this episode, we've got a
Speaker 1: little update, a twenty twenty five update, and actually we
Speaker 1: were prompted to do this by somebody who left a
Speaker 1: comment on Spotify. So this is a really great new
Speaker 1: feature that Spotify has. And if you've got any comments
Speaker 1: on any of our episodes, I read them all and
Speaker 1: then we bring them back and we have made edits
Speaker 1: to different podcast episodes. We've added bits, we've suggested to
Speaker 1: do different topics. So it's a really great way to
Speaker 1: have some feedback loop happening. So this came from anonymous
Speaker 1: but she said, Hey, team, wondering if you could provide
Speaker 1: an edit to this episode advising the public that the
Speaker 1: screening is now covered under Medicare. I think the cost
Speaker 1: would be a huge barrier for many people, and I
Speaker 1: would hate for people to listen to this outdated information
Speaker 1: and think they can't afford it. Thanks well, we would
Speaker 1: do so here we go, but before we go on
Speaker 1: to Pat, I did want to say about how this
Speaker 1: all began. And it began in twenty seventeen, Mackenzie Cassella
Speaker 1: was born to parents Rachel and Jonathan. At ten weeks old,
Speaker 1: she was diagnosed with spinal muscular atrophy. With no family
Speaker 1: history of genetic disease, the parents were not aware that
Speaker 1: they were carriers. Mackenzie died at seven months and eleven days,
Speaker 1: and Rachel and Jonathan launched a campaign calling for reproductive
Speaker 1: genetic carrier screening to be publicly funded. In twenty eighteen,
Speaker 1: the Australian government announced five hundred million towards genomics research
Speaker 1: and a twenty million dollar study of reproductive genetic carrier screening,
Speaker 1: calling it Mackenzie's mission. Amazing work by Rachel and Jonathan
Speaker 1: which has actually ended up. In November twenty twenty three
Speaker 1: that the three panel carrier screen was made one hundred
Speaker 1: percent bulk wheeled for anyone with Medicare in Australia. And
Speaker 1: the other thing I want to make people aware of
Speaker 1: is a Quick Kick that we released and it's episode
Speaker 1: one six y two and it's talking about the expanded
Speaker 1: panel screening which is available now. So have listened to
Speaker 1: what Tucktapat talks about knowing that the three gene carrier
Speaker 1: screening is now one hundred percent bog build and have
Speaker 1: her listen to the Quick Kick episode one sixteen. If
Speaker 1: you're trying to get pregnant or you are pregnant and
Speaker 1: you feel a little bit overwhelmed by all you need
Speaker 1: to know, then this is the right podcast for you.
Speaker 1: Welcome to the show. I'm Bridget Maloney.
Speaker 3: And I'm obstetrician Dr Patrick Maloney and this is the Kick,
Speaker 3: your expert led podcast that delivers the essentials of growing
Speaker 3: a baby. Welcome to episode three. This is Doctor Pat
Speaker 3: and I'm flying solo today. Today's discussion is what I
Speaker 3: wish every woman knew before becoming pregnant. Most women in
Speaker 3: the pre pregnancy phase know to take fol eight supplements
Speaker 3: easy tick. They know that quitting smoking is best easy tick.
Speaker 3: They're even stopping that glass of wine at the end
Speaker 3: of the day is on the radar tick that one off.
Speaker 3: But what a lot of people don't know is that
Speaker 3: we now have the ability to look very closely at
Speaker 3: our genes. And these are genes that are incredibly common
Speaker 3: in our population, and three genes in particular, four conditions
Speaker 3: known as cystic fibrosis or CF, spinal muscular atrophy SMA,
Speaker 3: and fragile x syndrome FXS. And we'll get into what
Speaker 3: those are in just a moment. So these are recessive
Speaker 3: genetic disorders that we can be carriers of without having
Speaker 3: the disease ourselves. And a carrier is somebody who has
Speaker 3: some genes for that disease but does not have that disease,
Speaker 3: but can pass it on to children. So what are
Speaker 3: your chances that you're a carrier of these genes? Well,
Speaker 3: it's actually pretty high. One in twenty five people carry
Speaker 3: the gene facystic fibrosis, and up to one in twenty
Speaker 3: in Tasmania, And that's a lot more than a lot
Speaker 3: of people think. I mean, fifty people are carriers for
Speaker 3: spinal muscular atrophy, but the number of people who carry
Speaker 3: that the fragileic syndrome gene is not really known. These
Speaker 3: are pretty important genetic diseases which many people are completely
Speaker 3: unaware that they carry in their genes. In fact, a
Speaker 3: study in Genetics in Medicine Medical Journal founder a massive
Speaker 3: eighty eight percent of couples are unaware that their carriers
Speaker 3: for these conditions, and when two carriers have a baby together,
Speaker 3: their baby can get the full disease. I've seen firsthand
Speaker 3: that turmoil newly pregnant couples can go through if they
Speaker 3: find out that their much hoped for child has one
Speaker 3: of these diseases. It's hard, there are really tough decisions
Speaker 3: to make. It has long lasting impacts on relationships, and
Speaker 3: it can be heartbreaking. So let's get on with a
Speaker 3: few facts. Cystic five brosis or CF is a severe
Speaker 3: condition affecting mainly breathing and digestion. People with cystic fibrosis
Speaker 3: need constant medical attention. They have a decreased life span
Speaker 3: to about their thirties, and about one in two thousand,
Speaker 3: five hundred babies born in Australia each year has cystic fibrosis.
Speaker 3: Fragile X syndrome is the most common form of inherited
Speaker 3: intellectual disability, and it affects about one in three thousand,
Speaker 3: six hundred males and about one in six thousand females.
Speaker 3: And the children with fragile x syndrome have varying degrees
Speaker 3: of behavioral and physical disabilities. And spinal muscular atrophy is,
Speaker 3: you know, is really a terrible condition. It's a severe
Speaker 3: disease in affecting muscles and it's rare, only about one
Speaker 3: in six to ten thousand berths, and it gives something
Speaker 3: that is sometimes called floppy baby syndrome. There are a
Speaker 3: few different types of spinal muscular atrophy, but basically babies
Speaker 3: with that diagnosis usually have a severe type and die
Speaker 3: before they're two years old. So you know, all just
Speaker 3: got a bit heavy. This is serious stuff. So let's
Speaker 3: get back to making a baby. If your ducks are
Speaker 3: in a row and you've worked out when you're ovulating,
Speaker 3: and you've prepared your lifestyle change, has given up the smokes,
Speaker 3: and you're ready to go, and you're in the baby
Speaker 3: making mood, I want you to think about stopping what
Speaker 3: you're doing for a moment and having a bit of
Speaker 3: a think about being tested for these conditions. Now I've
Speaker 3: got absolutely no affiliation with any company, like most doctors
Speaker 3: for that matter, but I want you to consider something
Speaker 3: called a prepair test, and that's a carrier test that
Speaker 3: can be done on the woman and if necessary, the
Speaker 3: male partner to find out in advance whether we're carriers
Speaker 3: for these conditions. As specialist obstetrician, I normally see women
Speaker 3: at about ten weeks when they're already pregnant, and I
Speaker 3: can tell you that since carrier testing became available, I've
Speaker 3: seen a grand total of one couple that have had
Speaker 3: pre pregnancy testing to see if they're carriers for this
Speaker 3: condition that you heard that right, There's one couple. On
Speaker 3: other occasions, i've seen couples in heartbreak where they find
Speaker 3: out after they're pregnant that they were both carriers for
Speaker 3: this condition and the baby is affected. It's not common,
Speaker 3: but it does happen, and I don't want it to
Speaker 3: happen to you. Carrier testing is existing technology, it's available
Speaker 3: to you right now, and I think that you deserve
Speaker 3: the opportunity to at least consider it before you conceive.
Speaker 3: So this is something that we want to get done
Speaker 3: before we start drying. And I recommend that everyone at
Speaker 3: least consider a prepare a test, and it's pretty much
Speaker 3: a must for couples with a family history of the
Speaker 3: diseases that we've talked about, even if it's in distant relatives.
Speaker 3: So what do we do. We go to the GP
Speaker 3: and we talk about pre testing for these conditions, and
Speaker 3: the commercially available test that I use is called pre
Speaker 3: pair p E P A I R, and it's available
Speaker 3: through the VCGS, which is the Victorian Clinical Genetics Service.
Speaker 3: So I'm really keen on people going to their doctor
Speaker 3: anyway before they get pregnant, so that the doctor has
Speaker 3: a chance to talk to you about readiness for pregnancy,
Speaker 3: and we can do a cervical screening test, you know
Speaker 3: the new papsmere check your immunity to rebell, get you
Speaker 3: on some fole late, talk about possible chicken pox vaccination,
Speaker 3: assess any regular cycle. The list goes on, and there's
Speaker 3: lots of good reasons to go to the doctor before
Speaker 3: you get pregnant, but prepare testing is one that I
Speaker 3: think doesn't always come up, and I'd like to see
Speaker 3: it come up more often. So we're going to cover
Speaker 3: in a future podcast all the good reasons to go
Speaker 3: to the doctor in advance and we'll give you a
Speaker 3: link to a checklist that you can print out before
Speaker 3: you go to the doctor to make sure that those
Speaker 3: key things get discussed. So a prepair test is done
Speaker 3: on blood or saliva, and you go to the GP
Speaker 3: and you talk about it and he'll give you a slip,
Speaker 3: just an ordinary pathology slip, and then you get online
Speaker 3: at VCGS dot org dot AU forward Slash Tests Forward
Speaker 3: Slash pre pair pr e p ai R and you
Speaker 3: buy the test online and then send in the saliva
Speaker 3: or go to pathology have blood drawn and they send
Speaker 3: in the blood. Now the bummery is it cost three
Speaker 3: hundred and eighty five bucks, which is a spicy meatball,
Speaker 3: I know, but I just think that's incomparable compared to
Speaker 3: the peace of mind that this can give you. So far,
Speaker 3: it's a user pays system. Unfortunately, you can shop around
Speaker 3: a bit. There are other providers of this test through
Speaker 3: some of the other big pathology providers, and I hope
Speaker 3: that it can humor market. It'll drive the costs down,
Speaker 3: and you know, consider this a call out to the
Speaker 3: government to start consider subsidizing testing like this. It would
Speaker 3: be great if there was enough government funding to keep
Speaker 3: up with technology, and we knew that most couples planning
Speaker 3: an upcoming pregnancy were aware in advance of their carrier
Speaker 3: status for these important conditions. So it's the woman who
Speaker 3: should be tested first because one of the conditions, fragile acts,
Speaker 3: can only be passed on by the mother, so it's
Speaker 3: much more sense to check the woman first, and then
Speaker 3: the male partner would be tested if the woman was
Speaker 3: found to be a carrier for any of the conditions,
Speaker 3: because to pass the disease onto a child, both parents
Speaker 3: need to be carriers. And if you're both carriers, then
Speaker 3: in discussion with your doctor and some clever people who
Speaker 3: are called genetic counselors, we can work out the exact
Speaker 3: chance of you guys, as a couple having a baby
Speaker 3: with one of them these significant diseases. So what do
Speaker 3: we do if you both found out to be carriers? Well,
Speaker 3: Couples in this situation are advised to consider a process
Speaker 3: called preimplantation genetic diagnosis, and this involves a couple having
Speaker 3: an IVF cycle, which tends to go very well because
Speaker 3: IVF goes very well if the couple aren't actually infertile
Speaker 3: and the embryos that are created are tested for the
Speaker 3: diseases in question, and only embryos that don't have the
Speaker 3: disease are used to be put back into the woman
Speaker 3: and grow into a baby. That process largely eliminates the
Speaker 3: risk of having a child with the disease for which
Speaker 3: the parents are carriers. It's important that this is not
Speaker 3: NIPS testing, this is not harmony testing. This has got
Speaker 3: nothing to do with down syndrome screening. I'll write a
Speaker 3: blog about that next time. This is about pre pregnancy
Speaker 3: screening for carrier status for those diseases. And you know,
Speaker 3: if the testing is normal, fantast carry on, make that baby.
Speaker 3: So that's it for today, short and sweet. All of
Speaker 3: this will be in our show notes. If you haven't
Speaker 3: subscribed yet, do that now so that you know when
Speaker 3: our next episode hits. And if you've liked what you've heard,
Speaker 3: please tell a friend. We're on a mission to bring
Speaker 3: this essential pregnancy information to every woman. See next time.
Speaker 1: Hey, even though doctor Pat is well a doctor, and
Speaker 1: we get lots of other doctors and other experts on
Speaker 1: our podcast, I just need to remind you that this
Speaker 1: podcast is for informational purposes only. We share lots of
Speaker 1: medical insights and experience, but everything we talk about is
Speaker 1: general in nature and may not apply to your specific situation.
Speaker 1: Please always consult with your own healthcare provider for your
Speaker 1: individual medical advice. When you grow your baby