WEBVTT - 167. A Genetic Testing Update

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<v Speaker 1>So, Patty, we haven't done this for ages, but I

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<v Speaker 1>wanted to start by talking about a DM that we

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<v Speaker 1>got from a listener. Nice YEP, I'm going to read

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<v Speaker 1>it out. I would just like to reach out and

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<v Speaker 1>thank you so much for your podcast. I started listening

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<v Speaker 1>to you guys throughout my entire pregnancy to educate and

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<v Speaker 1>prepare myself as a first time mum. I'm so glad

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<v Speaker 1>I did, because I ended up having a traumatic birth,

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<v Speaker 1>including an induction, an incredibly fast labor less than one

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<v Speaker 1>point five hours, the baby's heart rate dropping to sixty

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<v Speaker 1>beats per minute, and a pisiotomy, forceps, shouldered destotia three

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<v Speaker 1>B tier, and hemorrhaging not only during labor, but also

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<v Speaker 1>two weeks postpartum.

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<v Speaker 2>WHOA.

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<v Speaker 1>The knowledge I learned from your podcast allowed me to

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<v Speaker 1>understand what was happening during such a fast paced, scary

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<v Speaker 1>moment of my life where decisions had to be made quickly.

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<v Speaker 1>It allowed me to focus on the situation and remain

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<v Speaker 1>as calm as I could in a time where I

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<v Speaker 1>easily could have spiraled out of control. Bubs and I

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<v Speaker 1>are now three mons postpartum and can happily report neither

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<v Speaker 1>of us have had any long term problems as a

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<v Speaker 1>result of the birth, and I'm now enjoying this new

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<v Speaker 1>phase of my life. Thank you and a big heart.

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<v Speaker 1>That is just incredible, isn't it.

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<v Speaker 2>Yeah? Thanks for getting in touch.

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<v Speaker 1>I know, and like, I'm sorry that that was just

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<v Speaker 1>a traumatic birth that had pretty much everything. It was

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<v Speaker 1>one with the lot. I just wanted to unpack one

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<v Speaker 1>thing and that is three B tier. Yeah, yep, and

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<v Speaker 1>hemorrhaging not only during labor but also two weeks postpartum. Yeah.

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<v Speaker 2>So it just went on and on, isn't it, These complications,

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<v Speaker 2>and it's hard to know exactly you know, what the

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<v Speaker 2>details are behind those things, but there's certainly things that

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<v Speaker 2>we discuss in our podcast and in our program with

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<v Speaker 2>the idea being that these are hopefully not going to

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<v Speaker 2>happen to you, but if they do, knowledge about those

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<v Speaker 2>things and some awareness of those things is surely going

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<v Speaker 2>to be beneficial.

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<v Speaker 1>Yeah. So I really wanted to bring this to everybody's

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<v Speaker 1>attention because you know this, these are some things that

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<v Speaker 1>can happen in birth. So the more knowledge you have,

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<v Speaker 1>I think it has an impact on how calm it

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<v Speaker 1>can be if you actually know what's going to be

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<v Speaker 1>coming and how you can deal with it and what

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<v Speaker 1>decisions to make. Absolutely, so thanks so much for giving

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<v Speaker 1>us this DM. Welcome to the kick Your Expert led podcast,

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<v Speaker 1>helping you explore and learn everything about getting pregnancy, birth,

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<v Speaker 1>and becoming a parent.

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<v Speaker 3>On the podcast and our online pregnancy program grow My Baby,

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<v Speaker 3>we share my experience of helping more than four thousand

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<v Speaker 3>babies to be.

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<v Speaker 1>Born and our experience of running a women's health clinic

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<v Speaker 1>and parenting for boys.

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<v Speaker 3>We're here to help everyone to feel empowered in pregnancy

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<v Speaker 3>and birth with real life, practical information. Hi.

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<v Speaker 1>Everyone, Well, before we start this episode, we've got a

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<v Speaker 1>little update, a twenty twenty five update, and actually we

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<v Speaker 1>were prompted to do this by somebody who left a

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<v Speaker 1>comment on Spotify. So this is a really great new

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<v Speaker 1>feature that Spotify has. And if you've got any comments

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<v Speaker 1>on any of our episodes, I read them all and

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<v Speaker 1>then we bring them back and we have made edits

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<v Speaker 1>to different podcast episodes. We've added bits, we've suggested to

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<v Speaker 1>do different topics. So it's a really great way to

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<v Speaker 1>have some feedback loop happening. So this came from anonymous

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<v Speaker 1>but she said, Hey, team, wondering if you could provide

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<v Speaker 1>an edit to this episode advising the public that the

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<v Speaker 1>screening is now covered under Medicare. I think the cost

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<v Speaker 1>would be a huge barrier for many people, and I

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<v Speaker 1>would hate for people to listen to this outdated information

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<v Speaker 1>and think they can't afford it. Thanks well, we would

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<v Speaker 1>do so here we go, but before we go on

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<v Speaker 1>to Pat, I did want to say about how this

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<v Speaker 1>all began. And it began in twenty seventeen, Mackenzie Cassella

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<v Speaker 1>was born to parents Rachel and Jonathan. At ten weeks old,

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<v Speaker 1>she was diagnosed with spinal muscular atrophy. With no family

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<v Speaker 1>history of genetic disease, the parents were not aware that

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<v Speaker 1>they were carriers. Mackenzie died at seven months and eleven days,

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<v Speaker 1>and Rachel and Jonathan launched a campaign calling for reproductive

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<v Speaker 1>genetic carrier screening to be publicly funded. In twenty eighteen,

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<v Speaker 1>the Australian government announced five hundred million towards genomics research

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<v Speaker 1>and a twenty million dollar study of reproductive genetic carrier screening,

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<v Speaker 1>calling it Mackenzie's mission. Amazing work by Rachel and Jonathan

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<v Speaker 1>which has actually ended up. In November twenty twenty three

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<v Speaker 1>that the three panel carrier screen was made one hundred

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<v Speaker 1>percent bulk wheeled for anyone with Medicare in Australia. And

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<v Speaker 1>the other thing I want to make people aware of

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<v Speaker 1>is a Quick Kick that we released and it's episode

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<v Speaker 1>one six y two and it's talking about the expanded

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<v Speaker 1>panel screening which is available now. So have listened to

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<v Speaker 1>what Tucktapat talks about knowing that the three gene carrier

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<v Speaker 1>screening is now one hundred percent bog build and have

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<v Speaker 1>her listen to the Quick Kick episode one sixteen. If

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<v Speaker 1>you're trying to get pregnant or you are pregnant and

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<v Speaker 1>you feel a little bit overwhelmed by all you need

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<v Speaker 1>to know, then this is the right podcast for you.

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<v Speaker 1>Welcome to the show. I'm Bridget Maloney.

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<v Speaker 3>And I'm obstetrician Dr Patrick Maloney and this is the Kick,

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<v Speaker 3>your expert led podcast that delivers the essentials of growing

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<v Speaker 3>a baby. Welcome to episode three. This is Doctor Pat

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<v Speaker 3>and I'm flying solo today. Today's discussion is what I

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<v Speaker 3>wish every woman knew before becoming pregnant. Most women in

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<v Speaker 3>the pre pregnancy phase know to take fol eight supplements

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<v Speaker 3>easy tick. They know that quitting smoking is best easy tick.

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<v Speaker 3>They're even stopping that glass of wine at the end

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<v Speaker 3>of the day is on the radar tick that one off.

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<v Speaker 3>But what a lot of people don't know is that

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<v Speaker 3>we now have the ability to look very closely at

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<v Speaker 3>our genes. And these are genes that are incredibly common

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<v Speaker 3>in our population, and three genes in particular, four conditions

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<v Speaker 3>known as cystic fibrosis or CF, spinal muscular atrophy SMA,

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<v Speaker 3>and fragile x syndrome FXS. And we'll get into what

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<v Speaker 3>those are in just a moment. So these are recessive

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<v Speaker 3>genetic disorders that we can be carriers of without having

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<v Speaker 3>the disease ourselves. And a carrier is somebody who has

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<v Speaker 3>some genes for that disease but does not have that disease,

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<v Speaker 3>but can pass it on to children. So what are

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<v Speaker 3>your chances that you're a carrier of these genes? Well,

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<v Speaker 3>it's actually pretty high. One in twenty five people carry

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<v Speaker 3>the gene facystic fibrosis, and up to one in twenty

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<v Speaker 3>in Tasmania, And that's a lot more than a lot

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<v Speaker 3>of people think. I mean, fifty people are carriers for

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<v Speaker 3>spinal muscular atrophy, but the number of people who carry

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<v Speaker 3>that the fragileic syndrome gene is not really known. These

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<v Speaker 3>are pretty important genetic diseases which many people are completely

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<v Speaker 3>unaware that they carry in their genes. In fact, a

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<v Speaker 3>study in Genetics in Medicine Medical Journal founder a massive

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<v Speaker 3>eighty eight percent of couples are unaware that their carriers

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<v Speaker 3>for these conditions, and when two carriers have a baby together,

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<v Speaker 3>their baby can get the full disease. I've seen firsthand

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<v Speaker 3>that turmoil newly pregnant couples can go through if they

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<v Speaker 3>find out that their much hoped for child has one

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<v Speaker 3>of these diseases. It's hard, there are really tough decisions

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<v Speaker 3>to make. It has long lasting impacts on relationships, and

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<v Speaker 3>it can be heartbreaking. So let's get on with a

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<v Speaker 3>few facts. Cystic five brosis or CF is a severe

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<v Speaker 3>condition affecting mainly breathing and digestion. People with cystic fibrosis

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<v Speaker 3>need constant medical attention. They have a decreased life span

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<v Speaker 3>to about their thirties, and about one in two thousand,

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<v Speaker 3>five hundred babies born in Australia each year has cystic fibrosis.

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<v Speaker 3>Fragile X syndrome is the most common form of inherited

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<v Speaker 3>intellectual disability, and it affects about one in three thousand,

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<v Speaker 3>six hundred males and about one in six thousand females.

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<v Speaker 3>And the children with fragile x syndrome have varying degrees

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<v Speaker 3>of behavioral and physical disabilities. And spinal muscular atrophy is,

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<v Speaker 3>you know, is really a terrible condition. It's a severe

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<v Speaker 3>disease in affecting muscles and it's rare, only about one

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<v Speaker 3>in six to ten thousand berths, and it gives something

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<v Speaker 3>that is sometimes called floppy baby syndrome. There are a

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<v Speaker 3>few different types of spinal muscular atrophy, but basically babies

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<v Speaker 3>with that diagnosis usually have a severe type and die

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<v Speaker 3>before they're two years old. So you know, all just

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<v Speaker 3>got a bit heavy. This is serious stuff. So let's

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<v Speaker 3>get back to making a baby. If your ducks are

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<v Speaker 3>in a row and you've worked out when you're ovulating,

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<v Speaker 3>and you've prepared your lifestyle change, has given up the smokes,

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<v Speaker 3>and you're ready to go, and you're in the baby

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<v Speaker 3>making mood, I want you to think about stopping what

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<v Speaker 3>you're doing for a moment and having a bit of

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<v Speaker 3>a think about being tested for these conditions. Now I've

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<v Speaker 3>got absolutely no affiliation with any company, like most doctors

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<v Speaker 3>for that matter, but I want you to consider something

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<v Speaker 3>called a prepair test, and that's a carrier test that

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<v Speaker 3>can be done on the woman and if necessary, the

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<v Speaker 3>male partner to find out in advance whether we're carriers

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<v Speaker 3>for these conditions. As specialist obstetrician, I normally see women

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<v Speaker 3>at about ten weeks when they're already pregnant, and I

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<v Speaker 3>can tell you that since carrier testing became available, I've

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<v Speaker 3>seen a grand total of one couple that have had

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<v Speaker 3>pre pregnancy testing to see if they're carriers for this

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<v Speaker 3>condition that you heard that right, There's one couple. On

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<v Speaker 3>other occasions, i've seen couples in heartbreak where they find

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<v Speaker 3>out after they're pregnant that they were both carriers for

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<v Speaker 3>this condition and the baby is affected. It's not common,

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<v Speaker 3>but it does happen, and I don't want it to

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<v Speaker 3>happen to you. Carrier testing is existing technology, it's available

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<v Speaker 3>to you right now, and I think that you deserve

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<v Speaker 3>the opportunity to at least consider it before you conceive.

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<v Speaker 3>So this is something that we want to get done

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<v Speaker 3>before we start drying. And I recommend that everyone at

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<v Speaker 3>least consider a prepare a test, and it's pretty much

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<v Speaker 3>a must for couples with a family history of the

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<v Speaker 3>diseases that we've talked about, even if it's in distant relatives.

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<v Speaker 3>So what do we do. We go to the GP

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<v Speaker 3>and we talk about pre testing for these conditions, and

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<v Speaker 3>the commercially available test that I use is called pre

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<v Speaker 3>pair p E P A I R, and it's available

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<v Speaker 3>through the VCGS, which is the Victorian Clinical Genetics Service.

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<v Speaker 3>So I'm really keen on people going to their doctor

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<v Speaker 3>anyway before they get pregnant, so that the doctor has

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<v Speaker 3>a chance to talk to you about readiness for pregnancy,

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<v Speaker 3>and we can do a cervical screening test, you know

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<v Speaker 3>the new papsmere check your immunity to rebell, get you

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<v Speaker 3>on some fole late, talk about possible chicken pox vaccination,

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<v Speaker 3>assess any regular cycle. The list goes on, and there's

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<v Speaker 3>lots of good reasons to go to the doctor before

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<v Speaker 3>you get pregnant, but prepare testing is one that I

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<v Speaker 3>think doesn't always come up, and I'd like to see

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<v Speaker 3>it come up more often. So we're going to cover

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<v Speaker 3>in a future podcast all the good reasons to go

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<v Speaker 3>to the doctor in advance and we'll give you a

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<v Speaker 3>link to a checklist that you can print out before

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<v Speaker 3>you go to the doctor to make sure that those

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<v Speaker 3>key things get discussed. So a prepair test is done

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<v Speaker 3>on blood or saliva, and you go to the GP

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<v Speaker 3>and you talk about it and he'll give you a slip,

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<v Speaker 3>just an ordinary pathology slip, and then you get online

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<v Speaker 3>at VCGS dot org dot AU forward Slash Tests Forward

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<v Speaker 3>Slash pre pair pr e p ai R and you

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<v Speaker 3>buy the test online and then send in the saliva

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<v Speaker 3>or go to pathology have blood drawn and they send

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<v Speaker 3>in the blood. Now the bummery is it cost three

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<v Speaker 3>hundred and eighty five bucks, which is a spicy meatball,

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<v Speaker 3>I know, but I just think that's incomparable compared to

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<v Speaker 3>the peace of mind that this can give you. So far,

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<v Speaker 3>it's a user pays system. Unfortunately, you can shop around

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<v Speaker 3>a bit. There are other providers of this test through

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<v Speaker 3>some of the other big pathology providers, and I hope

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<v Speaker 3>that it can humor market. It'll drive the costs down,

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<v Speaker 3>and you know, consider this a call out to the

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<v Speaker 3>government to start consider subsidizing testing like this. It would

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<v Speaker 3>be great if there was enough government funding to keep

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<v Speaker 3>up with technology, and we knew that most couples planning

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<v Speaker 3>an upcoming pregnancy were aware in advance of their carrier

0:13:19.920 --> 0:13:23.960
<v Speaker 3>status for these important conditions. So it's the woman who

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<v Speaker 3>should be tested first because one of the conditions, fragile acts,

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<v Speaker 3>can only be passed on by the mother, so it's

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<v Speaker 3>much more sense to check the woman first, and then

0:13:34.440 --> 0:13:37.160
<v Speaker 3>the male partner would be tested if the woman was

0:13:37.200 --> 0:13:39.800
<v Speaker 3>found to be a carrier for any of the conditions,

0:13:40.840 --> 0:13:45.160
<v Speaker 3>because to pass the disease onto a child, both parents

0:13:45.200 --> 0:13:48.800
<v Speaker 3>need to be carriers. And if you're both carriers, then

0:13:48.840 --> 0:13:53.120
<v Speaker 3>in discussion with your doctor and some clever people who

0:13:53.240 --> 0:13:56.600
<v Speaker 3>are called genetic counselors, we can work out the exact

0:13:56.679 --> 0:13:59.600
<v Speaker 3>chance of you guys, as a couple having a baby

0:13:59.600 --> 0:14:03.000
<v Speaker 3>with one of them these significant diseases. So what do

0:14:03.040 --> 0:14:05.000
<v Speaker 3>we do if you both found out to be carriers? Well,

0:14:05.280 --> 0:14:08.120
<v Speaker 3>Couples in this situation are advised to consider a process

0:14:08.200 --> 0:14:13.720
<v Speaker 3>called preimplantation genetic diagnosis, and this involves a couple having

0:14:13.760 --> 0:14:18.079
<v Speaker 3>an IVF cycle, which tends to go very well because

0:14:18.320 --> 0:14:20.960
<v Speaker 3>IVF goes very well if the couple aren't actually infertile

0:14:21.600 --> 0:14:24.240
<v Speaker 3>and the embryos that are created are tested for the

0:14:24.320 --> 0:14:29.040
<v Speaker 3>diseases in question, and only embryos that don't have the

0:14:29.080 --> 0:14:32.720
<v Speaker 3>disease are used to be put back into the woman

0:14:32.720 --> 0:14:37.200
<v Speaker 3>and grow into a baby. That process largely eliminates the

0:14:37.280 --> 0:14:39.800
<v Speaker 3>risk of having a child with the disease for which

0:14:39.840 --> 0:14:43.720
<v Speaker 3>the parents are carriers. It's important that this is not

0:14:43.840 --> 0:14:46.040
<v Speaker 3>NIPS testing, this is not harmony testing. This has got

0:14:46.040 --> 0:14:49.600
<v Speaker 3>nothing to do with down syndrome screening. I'll write a

0:14:49.600 --> 0:14:54.200
<v Speaker 3>blog about that next time. This is about pre pregnancy

0:14:54.280 --> 0:14:58.760
<v Speaker 3>screening for carrier status for those diseases. And you know,

0:14:58.840 --> 0:15:01.880
<v Speaker 3>if the testing is normal, fantast carry on, make that baby.

0:15:02.680 --> 0:15:05.120
<v Speaker 3>So that's it for today, short and sweet. All of

0:15:05.120 --> 0:15:07.480
<v Speaker 3>this will be in our show notes. If you haven't

0:15:07.520 --> 0:15:09.600
<v Speaker 3>subscribed yet, do that now so that you know when

0:15:09.680 --> 0:15:12.520
<v Speaker 3>our next episode hits. And if you've liked what you've heard,

0:15:12.560 --> 0:15:14.960
<v Speaker 3>please tell a friend. We're on a mission to bring

0:15:15.000 --> 0:15:18.520
<v Speaker 3>this essential pregnancy information to every woman. See next time.

0:15:29.040 --> 0:15:32.240
<v Speaker 1>Hey, even though doctor Pat is well a doctor, and

0:15:32.280 --> 0:15:34.640
<v Speaker 1>we get lots of other doctors and other experts on

0:15:34.680 --> 0:15:37.480
<v Speaker 1>our podcast, I just need to remind you that this

0:15:37.600 --> 0:15:42.040
<v Speaker 1>podcast is for informational purposes only. We share lots of

0:15:42.080 --> 0:15:45.720
<v Speaker 1>medical insights and experience, but everything we talk about is

0:15:45.920 --> 0:15:49.600
<v Speaker 1>general in nature and may not apply to your specific situation.

0:15:50.160 --> 0:15:53.800
<v Speaker 1>Please always consult with your own healthcare provider for your

0:15:53.920 --> 0:15:56.800
<v Speaker 1>individual medical advice. When you grow your baby