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THE MOST ACCURATE IVF GENETIC SCREENING YET
Scientists in Melbourne have created a Pre-Implanation Genetic (PGS) test that is 99 per cent accurate, picking up the widest array of what they called genetic defects in an Australian first.
Embryos can be screened for a range of genetic conditions, including Down Syndrome, Huntington’s disease and spinal muscular atrophy, before pregnancy.
Monash IVF geneticist and PGS coordinator Dr Elissa Osborne said ideal candidates for screening would be older women, couples who have suffered multiple miscarriages, couples who have experienced repeat IVF failure, and known carriers of specific gene disorders, such as cystic fibrosis.
Not only that but testing for chromosomal abnormalities could pick up whether the issues arose from the egg or the sperm, where old methods could not.
The ideas have drawn criticism from some who claimed it was edging too close to playing ‘God’ and treated children who had conditions like Downs Syndrome as if they were less than equal.
What do you think?
Gordon Wood. Pic: Channel 9
1. Did you catch the Gordon Wood interview on 60 Minutes? He was convicted of murdering his girlfriend Caroline Byrne and making it look like a suicide almost 17 years ago in Sydney. But this year he was acquitted of the charges, on appeal, and walked free from jail. Now he told all. News.com.au reported:
Two days before her death, Caroline had sought medical help and was due to see a psychiatrist on the day she died.
“She only told me of her depression in a day or two before she committed suicide and I’ve reproached myself for maybe not being sensitive enough at the time of it,” Mr Wood said.
“I had no idea it was as serious as it was.”
2. Hey, Jason Segel was too fat too! A Universal studio exec told him he had to lose weight for his latest film ‘A Five Year Engagement’ because audiences needed some reason to believe Emily Blunt would fall for him. Head. Desk.
3. Britain’s Ministry of Defence is considering placing surface-to-air missiles on top of local residents’ flats as part of security for this year’s Olympics. Residents received leaflets from the MoD letting them know ‘higher velocity missile systems’ could be placed on their roofs. Fun for the whole family.
4. It’s not just a teen thing. Adolescence, scientists have reminded us, lasts until ‘at least the age of 24′ when the brain stops maturing. That means young pups are still higher risk takers and in a state of upheaval until basically their mid 20s. But parents already knew that right?
5. Should the age of criminal consent (in New South Wales) be raised to 16? It’s currently at 10 years of age across the country. It all comes back to that age old argument: how much are children able to actually distinguish right from wrong and should they be held criminally accountable earlier?
6. Up to 10,000 people people with disabilities, carers and friends will rally across Australia today to ensure no political party baulks at the National Disability Insurance Scheme. No party has yet guaranteed it, although Federal Labor has started the first stages of devising the multi-billion dollar scheme.
Comments
75 Comments so far
I think you have completely missed the point with your question regarding IVF Mamamia. Obviously you have never suffered the agonising journey of infertility and your also ignorant to the suffering of people in this area and the complete ineffectiveness of IVF as a solution for infertility. The motivation behind Monash Uni’s breakthrough was not to stamp out various genetic problems but to assist people with infertility. Massive, massive, huge difference.
The debate should be about why this technology is so expensive and limited to Victoria and what can be done to remove the barriers to infertile couples who are decent people who would make wonderful mums and dads out there.
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Wow, this feels so close to me. My boyfriend has a history of bowel cancer in his family (grandfather/father/sister) and as of last year, they isolated the gene and were able to test him for it. Unfortunately, we found out that he is a carrier. The technical name is lynch syndrome, a genetic defect that greatly increases his chances of getting bowel cancer. Currently, he’s sitting at about an 80% chance of getting it at some point. Crap odds.
I was there when we found out, and the genetic counsellor spoke to us about our options for conceiving. Any naturally conceived baby would have a 50/50 chance of being born with lynch syndrome which means, male or female, a lifetime of yearly colonoscopies and a pretty good shot at getting bowel cancer.
Pre-implantation genetic diagnosis, as discussed above, can now isolate the gene within an embryo and implant only the non-defective gene. It took my partner about .5 seconds to decide that this is what we would do. And so, I give up on my romantic, pre-conceived idea of how you make a baby, and accept that it will now happen in a dish in some sterile lab. That’s ok with me. I never looked at this from a selective gene perspective, or that my partner (or potentially our baby) would ever be ‘less than equal’. I just looked at this as the path we have to go down to get the healthiest possible baby, and as my partner put it, ‘stop this bastard in its tracks’ (the bastard being bowel cancer).
He has watched his pop, dad and sister (diagnosed at 16) go through it and if science has offered us a way to eradicate it, we’re going to take it. Why wouldn’t we?
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My brother has Down Syndrome and I honestly cannot imagine my life without him. If there had been testing available at the time, he might have never been born and we never would have been able to meet the most loving, adorable, beautiful person I have ever known. While I understand the need for testing, it seems tragic that so many people will never be born and we will never get to meet them JUST BECAUSE they have a disability.
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Until you have lived with a disability (I do) you have NO IDEA how hard this world is for those less able (both physically and mentally).
Bring on the testing I say!
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It’s funny that this topic should come up. I just posted on my blog holmemade.com.au that I am all for the testing and am going through the same clinic doing the trials and I couldn’t be happier.
From the point of view of someone going through IVF at the present after such a long struggle, if I were able to have my embryos tested, I would. It has already been such a struggle to get to this stage, and with all the money spent and countless tears, setbacks and frustrations, I would like to know that if/when I do fall pregnant via IVF I want the healthiest possible chance at having a live birth and not another miscarriage. Of course, if I were not lucky enough to have a healthy child, I would not proceed with an abortion, but to have the option of making sure I have the best chance possible at a live birth, I personally would chose this over a child who would struggle and be disadvantaged throughout their lives.
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Wishing you all the best Mrs H – hope you have a winner very soon. xo
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Thank you! Really appreciate that
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I agree completely. Have been down the ivf road for a while now as well and when i finally got pregnant last year we found out that our baby had a not compatible with life condition and was going to die during the pregnancy or shortly after birth, so we decided to terminate. I am still struggling with what happened to us and wouldn’t wish it on anyone, so next time i go through ivf i want to be sure before i get pregnant that i will not be going through the heartache of delivering my child while knowing that i will never get to hear my baby cry or see her laugh.I
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Oh Ivy, how utterly heart-breaking – I’m so sorry for your loss and sad experience. IVF is hard enough, without learning that your longed-for child will not make it. Best wishes to you for your next try – I hope you will soon have a wriggly blessing.
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Ivy – So very sorry to hear this. I cannot imagine how heartbreaking it would be to have to make such a tough decision. IVF is an absolute roller coaster ride without needing more hardships thrown at you. I really hope you have success again shortly.
I know since I started my blog and made the decision to make it public we have received an amazing amount of support. You are not alone in this journey.
I hope you have the same support from family and friends.
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The PGS tests topic is a really interesting one. I completely get why someone would not choose an embryo with an expectation of a child with a disability…in fact these embryos are less likely to develop into foetuses anyway (in my understanding). Of course, there’s the related argument that infertile people should not breed, that is, a person is infertile for a good biological reason and their genetics should not be continued. A reasonable argument but when you actually consider the real people affected…it’s a hurtful idea. Same goes for the PGS stuff too I think.
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Jay – that may be the case for some infertile couples, but for others the reasons are inexplicable, or potentially physical (e.g. uterus a wrong shape). I’d like you to say that to a room full of parents with healthy IVF children, because I suspect you’d be shouted down. (I get that you’re not necessarily supporting that argument, but as you’ve raised it, just thought I might point out that it’s not that simple).
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I agree Silverdragon. I have a healthy 2 year old who was a natural conception. IVF isn’t always for the genetically challenged, there are a lot of factors that come into play to have a baby. I am classed as having secondary infertiliy, but there is nothing wrong with my genetics at this point so why should I be denied the chance to have another child, just because I cannot do it naturally, doesn’t mean I should be ruled out all together. I hear what you are saying Jay, I have heard that argument many times before
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You’re right Silverdragon and Mrs H – it’s not something I agree with. I needed fertility help myself. I was trying to make the point that some arguments are ever so reasonable right up until you think about them for actual people. So I understand why some people feel very hurt about the PGS thing. If you love a person with the sort of disability that are screened for it’s hard to not to be a bit sad about it all.
Regarding the IVF/natural selection argument I reckon that if you are happy to take antibiotics/have heart surgery/use insulin etc (ie, use modern medicine) to stay alive then don’t deny modern medicine to others for reproductive purposes. If you are pro-natural selection/survival of the fittest show a bit of commitment and say no to penicillin!
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I agree
It is a touchy subject for most but everyone will always have an opinion one way or another. At the end of the day though, it is ultimately up to the parents to decide the fate of their possible children. Who are we to judge their reasoning behind their choices 
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Hahaha – yes, good point!!
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Same with me, though had several miscarriages both before and after the first one. We are blessed with a second gorgeous child who is sitting on my floor and blowing raspberries at her owl.
One is my ‘natural’ miracle, the other is my ‘science’ miracle. 
In both cases, I know exactly how lucky I am to have two beautiful, healthy and living children, as well as all the angels who couldn’t join us.
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I hope to one day have my “science” baby to pair up with my “natural” baby
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Oh, fantastic. Another great leap in our ability to discriminate against the disabled. Sorry ‘genetically defected’.
I wonder if they developed a test that could tell us if a baby would encounter the heartbreak of fertility struggles, or carry a gene which ensured they would conceive defective pregnancies, if we would include them among the embryos worthy of weeding out?
I know we all want healthy pregnancies, healthy children, happy lives. But life doesn’t come with a guarantee of perfection. Everyone deserves a chance, no matter how broken.
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It’s not about discriminating against the disabled. It’s about preventing suffering when you don’t HAVE to inflict it.
Would I abort a pregnancy if the child was fatally malformed, or fundamentally disabled, including Down’s or Tay Sachs (not relevant in my case but as an example) or Huntington’s? You damn right I would, and I have absolutely no guilt in that decision, because frankly, while “everyone deserves a chance”, prudence and humanity are the better part of valour.
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100% behind you CBR.
No one is suggesting that children born with disabilities should be discriminated against – they should be loved and cherished. But if you have the choice as to whether to implant an apparently healthy embryo (that is more likely to become a viable pregnancy anyway) or an embryo carrying a disability, why would you choose the hardship and pain unnecessarily?
As someone said below, you can test for many disabilities during pregnancy and terminate – so the “selection” element of the issue already occurs. Selecting pre-implantation simply saves a huge amount of heartache – not to mention time, expense and maternal risk.
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I’m pretty vehemently opposed to the ‘selection’ element at whatever point it occurs Alice. Eugenics is eugenics.
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You seriously think that destroying embryos on a basis of disability, isn’t discrimination? That reducing the number of people with disabilities in our society isn’t going to increase prejudice? That allowing a baby to be born with Down syndrome is ‘inhumanity’? Lovely.
Suffering is part of our humanity. It’s unavoidable in EVERY life. If you don’t want to ‘inflict’ suffering on a child then don’t reproduce in the first place.
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Who are we saving from “suffering”? The child or the parents? Obviously there are many conditions and disabilities where there is no quality of life and that is an extremely difficult decision to make. However many people who are disabled manage to live very happy, fulfilling lives. Not only that, they can bring so much to the people around them.
My big concern about this selection process is where would it end? At what point should we say enough is enough? Firstly is disabilities. Next it might be if they’ll have an IQ under 100, next it might be if they will be a red head…. where will this selection end?
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I think there is a big difference between choosing not have a serious disability and having a certain IQ or hair colour – it’s not that much of a slippery slope. People already terminate for disabilities – this would just prevent the need for that in couples undergoing IVF.
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Cerebral Palsy is the most prevalent disability in Australia. There are no PGS or foetal tests for it.
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How does one prevent against cerebral palsy? I don’t know much about that condition.
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Oxygen deprivation during birth, and prematurity, are leading causes.
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Jason Segel being utterly hilarious is reason enough to believe that Emily Blunt would be interested. I wouldn’t be complaining if he wanted to date me
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Isn’t he with Michelle Williams in “real life” – i don’t recall anyone asking her how she could “like” him in his current state? I’m a bit off my game in terms of celeb trivia so I might not have my real-life-couples correct.
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They are reportedly together which I think is super sweet. And you’re right, no one would ask her that.
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I don’t get the issue with the genetic testing of the embryos. Those risk groups identified are already routinely genetically tested mid-pregnancy, in a procedure that has a risk (albeit small) to the pregnancy, and may result in the parents having to make the very difficult decision to have a 2nd trimester termination. If the technology is available, isn’t it better to do the testing before even implanting, so the parents don’t have to go through that?
Do the people who have an issue with it also have an issue with testing via amnio or CVS for Downs Syndrome and other genetic disorders? If so, sorry, that horse has well and truly bolted, on the other hand, any argument that pre-implantation testing is different, or worse, is spurious at best.
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Some people do have a problem with this kind of testing. I don’t understand this personally, but some people believe that a baby should be born as it is, regardless of whether there is a chance of Downs Syndrome etc.
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In fact, to *not* implant an embryo with genetic defects is far preferable (particularly for the mother) than to carry a child half-way through a pregnancy, to 18-20 weeks (which is when amnio is performed) only to abort a foetus who in a few weeks would be considered ‘viable’ and placed on life support were it to be born prematurely. The kind of trauma that this causes for the parents is intense – to choose to terminate a life that you have already nurtured for 4-5 months – it is equivalent to a miscarriage at the same time.
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no. 4 ‘adolescence lasts at least until 24′
why this 231/2 year old independent and responsible adult (from age 18, legally and as well as when i moved out of home) pays an enormous premium on car insurance – almost $1000 :/
and on a part time work/full time masters student budget
thanks other irresponsible 18-25 year olds who havent got their shit together and are still ‘adolescent’ (excuses excuses)
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100% agree
from a 22year old full time worker, full time student, living out of home since 17 and never collected a cent of centrelink funds to move out/away (not an option for some obviously, but was for me).
Pidgeonholing via age is for chumps.
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I get your frustration, really I do. But the article is not ‘stereotyping’. It’s reporting on well supported scientific research that shows that the brain is in fact still maturing and developing up to the age of 24.
What that means is that while you feel like you’re fully matured and ‘acting like a grown up’, the truth is that your brain physiologically still has some opportunity to develop and improve. This is normally (but not always) in the areas of impulse control and emotion regulation.
Once you hit 24 there is limited opportunity to develop your brain in these areas, and you get some people who never ‘grow up’. But there are opportunities for the impulsive, moody 21 year old to change the way their brain is wired.
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Thanks for making that point Chookie. I’m a psychology student and just finished an essay on ‘emerging adulthood’ and did quite a bit of research on how the brain isn’t fully formed until around 24/25. Which does explain quite a bit as to why there is a prevalence of risk taking behaviour within that age group.
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And this is exactly why car insurance is a lot higher for under 25′s!!
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I think the genetic screening advances for IVF are fantastic. I do not have children, but through my work I see a lot of children seriously effected with cerebral palsy, cystic fibrosis and so on. They are loved and they are lovely – but my god it’s a difficult life for the parents, and one that a lot of people (myself included) wouldn’t choose if the option was there.
It must be incredibly painful to spend so much time, money, hope and pain on IVF only to fall pregnant with a child you may then have to terminate, or as a lifetime full-time carer for. If that hideous scenario could be avoided then I think that’s wonderful. I don’t think it’s a slippery slop – I think it’s just medical advancement. It’d be different if you were choosing the babies sex or hair colour or something non-medical.
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I agree Alice. Of course once the child is born no one would wish it away, disability or no, but if you could choose for your child to be born healthy, every parent would choose that.
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Completely agree with you Desiree.
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Ditto!! My sister is mentally disabled – we love her – but it has been a hard journey for our whole family and now she is 38 and needing full time care it’s just a heartbreak I would not wish on anyone. My heart has been broken a million times by her plight and that of so many others ….
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That sounds so hard for your family
My cousin has severe CP and while we all love him, my aunt has spent her life struggling to care for him physically, emotionally and financially, and feels such guilt whenever she’s away from him. He’s now a large 38 year old man and can be very volitile, and she’s an increasingly fragile 70-something year old. I would never, ever wish him away (obviously), but I would absolutely choose to not have a disabled child, if I had that choice.
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A 10-year-old knows right from wrong. My 15-month old gives me a cheeky grin as he heads for the power points of the chemicals cabinet (which is firmly locked!!!!) because he knows it’s naughty. A 16-year-old definitely knows right from wrong. Why is our society obsessed with taking more and more responsibility away from our kids? We’re raising a generation to whom the concept of consequence will be a foreign one!
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Did anyone see The Project last night. I thought it was incredibly bad taste for the presenters to make a joke out of the man that went to see his ex gf who was a dentist for dental work, and she put him under anesthetic and pulled every one of his teeth out as revenge. The Project panel found this story highly amusing, all laughing and suggesting HE was an idiot for putting himself in a position of trust with an ex.
Was this all highly amusing because it was a woman doing this to a man. I cant imagine anyone in the media treating this story as a joke were it a male that did this to a female ex.
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What happened to the woman that did that? Was she charged with anything?
I wouldn’t be laughing if that were my mouth they were talking about, male or female.
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We’re running a story on this today!
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Hopefully sans the gleeful amusement Rick.
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It won’t be coming from us, that’s for sure.
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I agree with you. I really do.
..But I do find it odd that this guy genuinely thought that getting his jilted ex to do surgery on him while the breakup was still fresh was a good idea… unless she was the only dentist in a 100km radius, i would consider this a bad move…
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They call that victim blaming dont they?
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Oh i forgot I have to be PC all the effing time! Gosh!
Seriously ease up. I didnt say that the woman didnt do the wrong thing did I? I just queried why the heck someone would get their jilted ex to do their dental work.
I would personally be uncomfortable with any of my even amicable exes dealing with me whilst anaesthetised…
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That level of pc is normally demanded of in here on any story of partner abuse. Whats the difference?
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It might be a good idea to read the story – its not partner abuse, its medical malpractice. The reason for the malpractice in her ‘defence’ against the claim is that she was exacting revenge for him leaving her for another woman just days earlier. Apparently she is remorseful etc, however she felt that the opportunity to exact her revenge was too much to resist.
Because this does not deal with a legal spousal abouse claim, lets not call it anything else but medical malpractice.
If your ex was a dentist and you had recently left him for a young hot bloke down the road, would you turn up to be anaesthetised by your ex for some extensive dental work?
No? good. me neither. end of story.
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I can see both good and bad with the genetic testing. My question is where will the line be drawn? It is a slippery slope and not one I’m fully comfortable with. Its a funny world we live in, where we are pushing the boundaries regarding genetic testing and conception yet we have diseases that have otherwise been eradicated due to vaccination that are now coming back into society because people are ignoring that scientific facts.
A 10 year knows right from wrong. We are already making too many allowances for children with anti social behaviour, we dont need any more slap on the wrist approaches.
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I think it could be a slippery slope but only if appropriate ethical guidelines are not put in place within a reasonable timeframe. There’s no reason we can’t develop ethical guidelines to ensure genetic testing for birth defects/potential disabilities is only used for medical purposes, not designer purposes.
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Absolutely Claire, testing for birth defects and disabilities is a wonderful breakthrough. Testing for sex selection solely because of the desire for a certain sex, for me is totally wrong.
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I will watch the gordon wood episode online today.
I don’t have a problem with IVF screening….yet. So far i don’t think its going too far. And if it is going to pick up a genetic defect that is going to prevent severe and life altering grief and sorrow later on I’m all for it.
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As someone who has suffered enough miscarriages to now be considered a habitual aborter (just love that term, not) – yes that is written on my medical notes :-/, I’m for as much testing as possible that will not only result in a viable pregnancy to be carried to term but also to stop the heartache that comes along with RPL (repetitive pregnancy loss).
Unless you’ve gone through it, you have no idea how hard it is to continually see pink lines year after year but still have empty arms.
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SB – I really, totally feel for you. You have my most sincere and heartfelt wishes for better fortune in the future – I wish you arms full of cuddles and an end to your heartbreak.
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Been there too SB. So heartbreaking.
My story did have a happy ending. I hope yours does too.
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i agree… when you have gone thru rounds and rounds of ivf including numerous painful miscarriages/// the PGS is a blessing! We are spending thousands of dollars each normal cycle together with massive emotional and physical toll when maybe the embryo was never going to be a success, PGS can help in woking out which if any to transfer back.
For me I am currently looking down the barrel of a PGS cycle….
Wishing us all a year ahead where maybe we get to hold our own baby in our arms… xx
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All the best, romy – I hope you have success with the PGS!
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The IVF screening worries me. I understand the logic, but I think it is unethical. Plus, it is the start of a very slippery slope. Can’t help thinking of Gattaca.
If a 10 year old doesn’t know right from wrong then something has gone seriously wrong in their upbringing. My understanding is that a childn’s concept of right and wrong is developed by the time they are five, although of course they continue to learn how to apply it as they grow older. That’s not to say that I think 10 year olds (or even younger) should be thrown in kiddie gaol, because juvenile detention has been shown not to work. But they do need to be held accountable and there needs to be consequences for their actions. Just like when kids hit other kids in the playground or they speak rudely to their parents. How else are they to learn?
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I actually read a really interesting article re: Gattaca over the weekend.
http://www.slate.com/articles/health_and_science/future_tense/2012/04/noninvasive_prenatal_diagnostic_tests_ethics_abortion_and_insurance_coverage_.html
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Good read … The thought of a two tier society of “naturals” and others who aren’t is creepy. it’s all a bit chilling when you consider how these processes may be abused. Another issue for the ethicists to chew over. For me, personally, I wouldn’t have testing done. I decided this long, long ago during my child-bearing years and it still feels right for me.
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See, when insurance companies and commercial interests get involved it just makes it so much murkier. I hate the idea that an insurance company could mandate tests like this and then refuse to insure the woman and her baby based on the results. This is tantamount to forcing her to have an abortion, or go without health insurance, which is going to have other significant ramifications.
If these tests become freely available to the general public, there is going to be a massive ethical burden placed on governments to legislate to protect the interests of parents and their unborn children. Certainly, if a woman chooses to act on negative results (as long as they are totally accurate) that is another story, but to be effectively forced into it is all wrong.
And don’t get me started on gender selection, particularly in eastern countries. I do wonder what on earth is going to happen when these societies are all male and there’s nobody to birth the next generation, or all the other things that women traditionally do in society. *sigh*
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Yes to genetic testing. Anyone who has gone through repeated miscarriages and is spending thousands of dollars on assisted reproduction wants to know that their child is going to have the very best chance of being born alive and then living as healthy and “normal” a life as is scientifically possible. This in *no* way diminishes the value of lives already affected by conditions such as Downs Syndrome, but I wonder how many parents would honestly choose to have a child affected by a disability over one who doesn’t, if the choice was available.
I absolutely don’t support the concept of “designer babies” – i.e. cosmetic things such as eye or hair colour, physical prowess or intelligence (if indeed these things become possible) but ensuring your child has the best possible quality of life and can live independently and well is a different story.
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I absolutely agree Silverdragon. And currently available tests like nuchal fold, amnio and CVS already give parents the option to terminate pregnancies if abnormalities are found so I don’t see how this is any worse.
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I support genetic testing for potentially preventable illnesses/diseases/disabilities. I believe that those who are born with or develop such illnesses/diseases/disabilities have every right to live and be taken care of; their lives aren’t less meaningful just because we can screen for their illnesses/diseases/disabilities. I think we need fewer people born with complications so we can take better care of the ones we already have.
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What the? You believe that those who are born with disabilities have every right to live, but we need to prevent them from being born in the first place?
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No. I believe that those who are born with disabilities deserve to be cared for as much as anyone else, but if we can reduce births of those who we know would be born with a disability then this is a good thing.
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Well, I guess you’ll just have to forgive me if I refrain from telling any of the 3 beautiful Downs toddlers in my life that it would have been good if their births or the births of people like them had been prevented. Or from chastising their parents, all of whom knew of the diagnosis before birth.
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I don’t think I said anywhere that parents who choose to go ahead with a birth despite knowing their child could have a disability should be chastised.
And my opinion is that once the baby is born, all bets are off – they should be loved and cherished just like any baby should be. I’m not telling you that you should tell those children their births should have been prevented. However, if they were my children and I had the choice to have them be born without Downs, I would make that choice. Your choice might be different – and that is your right.
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