🤝 Community Tard Baby General (includes brain dead kids) - Fundies and their genetic Fuckups; Parents of corpses in denial

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They can do the NIPT (dna blood tests) at like 6 weeks now and the newest ones are super accurate. The older generation of blood tests were shitty and gave odds (I.e. you have a 1 in 20 chance on DS) so amnio was the only way to be sure, but these new tests are almost as accurate as amnio.
Amniocentesis also carries a slightly elevated risk of miscarriage, especially when performed before the 15th week of pregnancy. Unfortunately, it's a double edged sword, because the longer the fetus is allowed to grow, the harder it is to obtain a usable sample of amniotic fluid, because as the fetus gets bigger, there's less room to work inside the amniotic sac. For these reasons, amniocentesis is usually only done in cases where there are no better alternatives, including cases where less invasive prenatal testing has indicated the possibility of an issue with the fetus.

These initial screening methods include the anatomical ultrasound; the triple/quad test, which measures hormone levels in maternal blood to screen for neural tube defects and the three most common aneuploidies (Trisomy 13, Trisomy 18, and Trisomy 21/Down syndrome); and NIPT ("non-invasive prenatal testing"), a more sensitive and specific method of testing for a broader range of chromosomal abnormalities via analysis of the tiny fragments of fetal DNA which circulate in maternal blood during pregnancy. This is called cell-free fetal DNA, or cffDNA, and because it actually comes from the baby, NIPT is very good at indicating the presence of the three common aneuploidies, with sensitivity >99%. The "sensitivity" of a test refers to its ability to correctly identify cases of a disease; that is, how often the test is negative in a patient that actually has the condition being tested for. NIPT successfully identifies more than 99 out of 100 cases of Trisomy 13, Trisomy 18, or Trisomy 21. This is pretty good, but NIPT is actually considered a screening rather than a "diagnostic" test. It's still possible that a fetus with a positive NIPT screen will actually be genetically normal. There are lots of reasons why this can happen, and I can sperg about those upon request. Amniocentesis is still the gold standard for fetal diagnostics, and in most cases, an abnormal NIPT screening will be followed up by an amniocentesis or by chorionic villus sampling (CVS), which is basically the same idea, just a different kind of specimen. An advantage of the NIPT assay is that it can also be customized to look for other chromosome abnormalities in individual cases, such as when a woman suffers repeated fetal or infant losses, or when there is concern that a disease "runs in the family".

For both the older tests (the "triple" or "quad" screen) and NIPT, the results are only expressed as odds, as @MirnaMinkoff mentioned above. The difference is that the NIPT is more specific because it is analyzing actual fetal chromosome material, not just maternal hormones which may correlate with fetal abnormalities. However, because the sample is generated from maternal whole blood, there is a possibility of the mother's genetic material contaminating the sample and giving inaccurate results. It is also possible for there to be insufficient fetal genetic material (called the "fetal fraction") in the mother's blood. This usually happens when the test is done too early, usually before the 10th week of pregnancy. Amniocentesis, unlike NIPT, uses genetic material taken directly from fetal cells, so it is much more accurate.

I'm sure everyone who is reading this knows, but just in case, amniocentesis is a procedure in which an extremely long, thin needle is poked through the mother's abdomen, into the uterus and amniotic sac (where the fetus is growing) and a sample of the fluid inside drawn out. This fluid is then analyzed for various substances, including bacteria; indicators of fetal lung maturity including lecithin, sphingomyelin, and phosphatidylglycerol; and genetic material. It can be invaluable, but it is risky. Also, considering that NIPT is not reliable until at least 10 weeks of gestation and results may take several weeks to become available, depending on the lab capabilities, it's possible that after an amniocentesis can be done confirming a "bad" diagnosis, it's too late for a woman to be able to abort, either because of legal restrictions or because of personal misgivings. In situations where the suspected fetal condition is something other than the big 3 aneuploidies, it can take even longer, because the testing materials need to be customized based on expected mutations.
 
You know how certain organizations promote certain things? For example right now there is a supposed Alz drug designed to help slow down or halt progression? Yeah well the Alzheimer’s Association of America is doing this. Except where I am and at other associations, we are completely against it. Aside from it costing 56k a year per patient , there really is no evidence to justify it. But to get back on topic..(btw Alz.org is a terrible organization to support)

i have a suspicion that the equivalent to whatever Downs Syndrome (National Association for Downs Syndrome) is, is hiding the dementia/DS link on purpose, because if people really knew those stats they may think twice about wanting a DS baby. Those are absolutely terrifyingly high rates of dementia.
I cringe whenever I hear "They're withholding the cure because of XYZ" because no researcher would do that.
 
I cringe whenever I hear "They're withholding the cure because of XYZ" because no researcher would do that.

I never said anything about a cure being withheld.


All I said is that a new drug for Alzheimers came out which is being promoted (which costs 56k per client and only works for a small base).

However, after talking about it with coworkers it doesnt seem like a good idea and if you look it up, many Alzheimers groups are against it, but certain orgs are promoting it because of $$$.
 
Also, considering that NIPT is not reliable until at least 10 weeks of gestation and results may take several weeks to become available, depending on the lab capabilities, it's possible that after an amniocentesis can be done confirming a "bad" diagnosis, it's too late for a woman to be able to abort, either because of legal restrictions or because of personal misgivings. In situations where the suspected fetal condition is something other than the big 3 aneuploidies, it can take even longer, because the testing materials need to be customized based on expected mutations.
Amino can’t be done until 15 weeks and NIPT takes two weeks to come back so I don’t think the NIPT would cause undue delay. A bigger issue would be doing amnio because of the anatomy ultrasound which could push you up against the 24 week barrier.
 
I cringe whenever I hear "They're withholding the cure because of XYZ" because no researcher would do that.
I'm sorry for this powerlevel. Please skip this if you don't like asides based on personal experience.

I once had reason to work for a researcher whose life's work focuses on a common but devastating condition that usually arises in childhood, is frequently uncontrollable even with the most advanced medical treatment, and can result in profound disability or even death. There are treatments available, but they do not work for every patient and even the lucky ones usually have extremely debilitating side effects. This person has spent an entire career in the lab, working 20+ hour days sometimes, to advance a single hypothesis about the mechanisms behind this disease, with the hope that it will be exploitable for a cure, or at least a less awful treatment. This person has achieved some renown in the field, and is a pretty big deal. I'm almost certain, though, based on some of my experience, that s/he would work for free if that is what was required. For most research scientists, the profession isn't just a career, it's a true calling. I think it's likely pretty difficult for outsiders or laypeople to relate to making a single topic the focus of all of your waking hours for decades the way many research scientists do.

The idea that researchers would hold back promising treatments, let alone cures, for any disease would horrify - and honestly, offend - everyone I know who is employed in any type of research, from basic to translational to clinical. It's categorically antithetical to the whole idea of research. Why would you bother with any of this if you did not believe that your work would lessen human suffering? Yes, there are awards and publications and accolades, but I think there are relatively few research scientists who consider those the ultimate end of their work. You don't bring a sleeping bag to the lab so that you can grab a couple hours of sleep between experiments without needing to go home because you're in it for asspats.

Also, speaking cynically, it's ridiculous to think that someone would forgo the money involved in marketing a promising drug. Research usually pays much less than other scientific disciplines, so getting a windfall from a miracle drug isn't something that most investigators would scoff at. 🎩

All I said is that a new drug for Alzheimers came out which is being promoted (which costs 56k per client and on
Every potential treatment for Alzheimer disease thus far has been underwhelming and only available to a tiny fraction of patients at best, or a huge flop at worst. We just don't understand enough about the disease mechanism to try to fix it.

There are all kinds of shitty drugs that make it to market, though. Look up the controversy surrounding Genentech's drug Avastin (bevacizumab) if you feel like getting angry.
 
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Pretty stupid of them to call themselves global ds but didn't already have stuff translated into Icelandic.

I'm skeptical of this. There are tons of genetic conditions where pretty much nothing is known. As far as I know, DS is one of the best understood genetic conditions.
This is not a baby, this is a non-sentient being. What is the life expectancy of these kids?

You know how certain organizations promote certain things? For example right now there is a supposed Alz drug designed to help slow down or halt progression? Yeah well the Alzheimer’s Association of America is doing this. Except where I am and at other associations, we are completely against it. Aside from it costing 56k a year per patient , there really is no evidence to justify it. But to get back on topic..(btw Alz.org is a terrible organization to support)

i have a suspicion that the equivalent to whatever Downs Syndrome (National Association for Downs Syndrome) is, is hiding the dementia/DS link on purpose, because if people really knew those stats they may think twice about wanting a DS baby. Those are absolutely terrifyingly high rates of dementia.
Which basically means the cute DS baby a couple has in their thirties will start to experience dementia along with their parents. Older parents have enough health issues and adding a dependent adult with dementia, it's terrible.
 
Amniocentesis also carries a slightly elevated risk of miscarriage, especially when performed before the 15th week of pregnancy. Unfortunately, it's a double edged sword, because the longer the fetus is allowed to grow, the harder it is to obtain a usable sample of amniotic fluid, because as the fetus gets bigger, there's less room to work inside the amniotic sac. For these reasons, amniocentesis is usually only done in cases where there are no better alternatives, including cases where less invasive prenatal testing has indicated the possibility of an issue with the fetus.

These initial screening methods include the anatomical ultrasound; the triple/quad test, which measures hormone levels in maternal blood to screen for neural tube defects and the three most common aneuploidies (Trisomy 13, Trisomy 18, and Trisomy 21/Down syndrome); and NIPT ("non-invasive prenatal testing"), a more sensitive and specific method of testing for a broader range of chromosomal abnormalities via analysis of the tiny fragments of fetal DNA which circulate in maternal blood during pregnancy. This is called cell-free fetal DNA, or cffDNA, and because it actually comes from the baby, NIPT is very good at indicating the presence of the three common aneuploidies, with sensitivity >99%. The "sensitivity" of a test refers to its ability to correctly identify cases of a disease; that is, how often the test is negative in a patient that actually has the condition being tested for. NIPT successfully identifies more than 99 out of 100 cases of Trisomy 13, Trisomy 18, or Trisomy 21. This is pretty good, but NIPT is actually considered a screening rather than a "diagnostic" test. It's still possible that a fetus with a positive NIPT screen will actually be genetically normal. There are lots of reasons why this can happen, and I can sperg about those upon request. Amniocentesis is still the gold standard for fetal diagnostics, and in most cases, an abnormal NIPT screening will be followed up by an amniocentesis or by chorionic villus sampling (CVS), which is basically the same idea, just a different kind of specimen. An advantage of the NIPT assay is that it can also be customized to look for other chromosome abnormalities in individual cases, such as when a woman suffers repeated fetal or infant losses, or when there is concern that a disease "runs in the family".

For both the older tests (the "triple" or "quad" screen) and NIPT, the results are only expressed as odds, as @MirnaMinkoff mentioned above. The difference is that the NIPT is more specific because it is analyzing actual fetal chromosome material, not just maternal hormones which may correlate with fetal abnormalities. However, because the sample is generated from maternal whole blood, there is a possibility of the mother's genetic material contaminating the sample and giving inaccurate results. It is also possible for there to be insufficient fetal genetic material (called the "fetal fraction") in the mother's blood. This usually happens when the test is done too early, usually before the 10th week of pregnancy. Amniocentesis, unlike NIPT, uses genetic material taken directly from fetal cells, so it is much more accurate.

I'm sure everyone who is reading this knows, but just in case, amniocentesis is a procedure in which an extremely long, thin needle is poked through the mother's abdomen, into the uterus and amniotic sac (where the fetus is growing) and a sample of the fluid inside drawn out. This fluid is then analyzed for various substances, including bacteria; indicators of fetal lung maturity including lecithin, sphingomyelin, and phosphatidylglycerol; and genetic material. It can be invaluable, but it is risky. Also, considering that NIPT is not reliable until at least 10 weeks of gestation and results may take several weeks to become available, depending on the lab capabilities, it's possible that after an amniocentesis can be done confirming a "bad" diagnosis, it's too late for a woman to be able to abort, either because of legal restrictions or because of personal misgivings. In situations where the suspected fetal condition is something other than the big 3 aneuploidies, it can take even longer, because the testing materials need to be customized based on expected mutations.
I always go out of my way to mention the old triple and quad screenings because they still cause so much false hope and bullshit online. It seems a lot of women didn’t really understand those tests. Women were told “your fetus has a 1 in 20 or a 1 in 5 chance of having DS” but in many women’s minds, or at least in retellings, it turned into “your baby definitely has Down syndrome”. Then when the baby was born without DS this became proof that these tests weren’t accurate. (When in fact if you were given high odds of DS with a quad screening you were then supposed to have an amnio to know for sure.)

Now you have women who get the new accurate NIPT tests, find out they have a fetus positive for DS or another trisomy, and a bunch of morons online (or IRL) who start repeating the old yarn about “my grandma/aunt/friend was told their baby had DS and they were born totally fine”. They don’t understand those women had a totally different type of test or the fact that even then these women were only told they had high/higher odds for a DS baby.
 
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This is not a baby, this is a non-sentient being. What is the life expectancy of these kids?
Very poor. It's actually quite incredible that he's survived as long as he has. The cause of death in patients like this is often respiratory failure as a result of infection or aspiration pneumonia, or status epilepticus (a constant seizure that cannot be stopped or controlled by medication) which causes cardiac arrest. Also, sometimes patients with epilepsy, even if their seizures are well controlled, just die without apparent cause. It's a phenomenon called Sudden Unexpected Death in Epilepsy Patients (SUDEP), and it actually accounts for 10-20% of all epilepsy-associated deaths. It usually happens during sleep; the person is feeling fine, just goes to bed as usual but never wakes up. At autopsy, there are no indications of a seizure immediately preceding death, and other findings are noncontributory: microscopic abnormalities in brain cells (which is a common finding in all epilepsy patients, not just those who die from SUDEP), pulmonary edema (fluid in the lungs), and mild but non-fatal changes in the cells of the heart are the most frequent. It happens, and it happens to people in way better shape than this poor kid. If his ultimate cause of death is epilepsy-related, though, I don't think it could be properly called SUDEP. There's so much other stuff going on with his brain alone that it's not accurate to call it "unexpected". There's a thing called SUDEP+ which accounts for epilepsy patients who do not die of a seizure but have another condition that could have contributed.

Matthew Nel, who died recently, was another child with a similar condition who lived much longer than doctors predicted, despite his best efforts. Mind you, this isn't really a good thing. The quality of life of children affected by such devastating neurological disorders is basically nil. At some point, all of the drastic interventions become something that caregivers are doing to a child, not for them. Matthew tried to die on a near daily basis, and was resuscitated by his parents every time.


Which basically means the cute DS baby a couple has in their thirties will start to experience dementia along with their parents. Older parents have enough health issues and adding a dependent adult with dementia, it's terrible.
Exactly. If they're high functioning enough (which is not at all a given), people with DS are at least aware of the dementia connection. Most will have even watched friends or acquaintances with DS slip away as a result of Alzheimer disease.

Alzheimer disease isn't the only condition associated with Trisomy 21, either. Children with DS have higher risk of congenital heart defects, including types that are unfixable/will kill them, and unfortunately, it can be very difficult to get an organ transplant for someone with an intellectual disability. A particular subtype of pediatric leukemia (cancer of the blood cells), called acute myeloid leukemia, is 150 times more common in children with DS than in unaffected children. Interestingly, though, their prognosis appears significantly better.

It's not just the intellectual disability. I don't blame parents who don't want to possibly have to grapple with putting a kid through treatment for cancer or a severe heart defect. Serious illness like that are traumatic and life-changing for children who are intellectually normal.
 
I'm iffy on teh DS foundation hiding things due to them attempting to pass a bill to make doctors lie bout down syndrome to parents so they would not abort. They feel that amnios and such and genetic testing will lead to less children with down syndrome and are offended by it for some reason. Think the post on it got removed from this thread though when the abortion stuff was removed.

Found link if anyones interested:
https://kiwifarms.net/threads/the-abortion-debate-containment-thread.76613/post-8516723
 
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Don't have any links handy, but I've heard that some cases where "the test was wrong" (most commonly, the test indicated that the baby had DS or some other chromosomal anomaly, and it was born and didn't) is a case where it was mosaic at the 8-cell stage, meaning that some cells had the anomaly and others didn't, and the abnormal cells went to the placenta and the normal cells went to the baby. There is research being done into this.

I personally know a woman who had a grandchild with Mosaic Down Syndrome; she only has the extra chromosome in 25% of her cells, and while she has the typical Down's facies, she has none of the other health issues associated with it and her intellectual disability is not as severe as it usually is, although she is in special ed. IDK if they knew any of this before she was born.
 
Don't have any links handy, but I've heard that some cases where "the test was wrong" (most commonly, the test indicated that the baby had DS or some other chromosomal anomaly, and it was born and didn't) is a case where it was mosaic at the 8-cell stage, meaning that some cells had the anomaly and others didn't, and the abnormal cells went to the placenta and the normal cells went to the baby. There is research being done into this.

I personally know a woman who had a grandchild with Mosaic Down Syndrome; she only has the extra chromosome in 25% of her cells, and while she has the typical Down's facies, she has none of the other health issues associated with it and her intellectual disability is not as severe as it usually is, although she is in special ed. IDK if they knew any of this before she was born.
I'd argue that even a mosaic presentation gives a mere possibility of increasing the risk of Alzheimer's and thus should not be placed upon a future person's plate. Thus, any possible inaccuracies or the chance of a lesser sped kid shouldn't matter because they could still get horrific death.
 
I'm iffy on teh DS foundation hiding things due to them attempting to pass a bill to make doctors lie bout down syndrome to parents so they would not abort. They feel that amnios and such and genetic testing will lead to less children with down syndrome and are offended by it for some reason. Think the post on it got removed from this thread though when the abortion stuff was removed.
Lying about test results is another way to falsify medical records, and that is grounds for license revocation.

I'd argue that even a mosaic presentation gives a mere possibility of increasing the risk of Alzheimer's and thus should not be placed upon a future person's plate. Thus, any possible inaccuracies or the chance of a lesser sped kid shouldn't matter because they could still get horrific death.
This is something that each couple needs to decide for themselves.

About a year ago, the sister of one of my tweenage friends died from early-onset Alzheimer's at the age of 59. Their dad died at about the same age, and I wonder if he had it too. And neither of them had Down syndrome.

Most Alzheimer's is not inherited (that we know of) but the type she had, is.
 
Don't have any links handy, but I've heard that some cases where "the test was wrong" (most commonly, the test indicated that the baby had DS or some other chromosomal anomaly, and it was born and didn't) is a case where it was mosaic at the 8-cell stage, meaning that some cells had the anomaly and others didn't, and the abnormal cells went to the placenta and the normal cells went to the baby. There is research being done into this.

I personally know a woman who had a grandchild with Mosaic Down Syndrome; she only has the extra chromosome in 25% of her cells, and while she has the typical Down's facies, she has none of the other health issues associated with it and her intellectual disability is not as severe as it usually is, although she is in special ed. IDK if they knew any of this before she was born.
You make a good point about the "false positive" thing. Since the old tests @MirnaMinkoff mentioned don't actually use chromosome material for their analysis, there's a chance that the result will be interpreted wrong. In cffDNA testing, like NIPT, the material tested is fetal DNA. Since it's obtained from the mom's blood, though, there's a possibility that any abnormalities found are actually in the mom, not the fetus. This can happen if the mother has a balanced translocation or a mosaic disorder that she doesn't know about. It's more common if the test is done early, before there's enough fetal DNA in the circulating blood to get a good sample.

As Mirna explained, the newer tests are much more sensitive and these "false positive" results are not as common as they once were. The problem arises when people who have experience with a false positive on an older quad screen test try to compare their results 1:1 with the newer testing method, thus giving pregnant women false hope.
 
This is something that each couple needs to decide for themselves.

About a year ago, the sister of one of my tweenage friends died from early-onset Alzheimer's at the age of 59. Their dad died at about the same age, and I wonder if he had it too. And neither of them had Down syndrome.

Most Alzheimer's is not inherited (that we know of) but the type she had, is.

at work, a client’s brother in law said that his son/other relative has a girlfriend who’s 30 with Alzheimer’s. In this case, it is a genetic form that hits early on although that is rare. That is absolutely scary, though.

I can’t imagine willingly having a kid that increases the risk of dementia by a lot. But this is why the threads exist, I guess. People think a baby is precious even though it is missing it’s brain or a progressive neurological disease and so on.
 
Besides the proposed role of viruses in Alzheimer's, all other cases are gonna be from your genes. Yeah, the brain ages and gets bad at doing shit, but if you also have a mutation that makes some pathway not as efficient, then you are prone to develop it. The disease is a multi-gene one after all.

So risk is inherited, and in some cases, like early onset varieties, you will get it.

(Viruses may just be putting strain on a system, tipping it over the edge toward disease. Whether they are the causative agents or not.)

Like with all disorders, the potential risks that affect quality and longevity should be factors regarding abortion. Alzheimer's and DS just particularly grind my gears because its a terrible disease and 'advocacy' groups ignore the connection.
 
There are all kinds of shitty drugs that make it to market, though. Look up the controversy surrounding Genentech's drug Avastin (bevacizumab) if you feel like getting angry.
Do you have any good links on this? I'm only familiar with intraocular Avastin (off-label for macular degeneration) being much cheaper than Lucentis (on-label), but that's only status quo angrymaking for the economics of healthcare.
 
Do you have any good links on this? I'm only familiar with intraocular Avastin (off-label for macular degeneration) being much cheaper than Lucentis (on-label), but that's only status quo angrymaking for the economics of healthcare.

I believe the controversy revolves around the fact that the fda fast tracked it for breast cancer use and then revoked it.

 
I believe the controversy revolves around the fact that the fda fast tracked it for breast cancer use and then revoked it.

That is very true. It does work for SOME breast cancers, but for most of them, you might as well charge $20,000 for a bag of saline. This is why genomic analysis is so important.

Powerleveling: This is something I know about firsthand. I am a breast cancer survivor, and my genomic test, along with the staging and a few other factors, indicated that for me, chemotherapy would not be advisable. That was the best news of all after I got my diagnosis! I did do radiation, without complications.
 
I'd argue that even a mosaic presentation gives a mere possibility of increasing the risk of Alzheimer's and thus should not be placed upon a future person's plate. Thus, any possible inaccuracies or the chance of a lesser sped kid shouldn't matter because they could still get horrific death.
I think you're right. It's not like you can predict which cells will be normal and which will have the extra copy of chromosome 21, or how many of the abnormal cells are present in a particular organ.
 
Which basically means the cute DS baby a couple has in their thirties will start to experience dementia along with their parents. Older parents have enough health issues and adding a dependent adult with dementia, it's terrible.
Not to PL, but I have friends who work in adult group homes and many of the DD clients lived at home with at least one older parent/caregiver until that person died of old age.
They leave behind very confused and heartbroken adult children. Some may not even understand death, they just know their mother is gone. It sucks but it's something people should consider before starting a family.

I always go out of my way to mention the old triple and quad screenings because they still cause so much false hope and bullshit online. It seems a lot of women didn’t really understand those tests. Women were told “your fetus has a 1 in 20 or a 1 in 5 chance of having DS” but in many women’s minds, or at least in retellings, it turned into “your baby definitely has Down syndrome”. Then when the baby was born without DS this became proof that these tests weren’t accurate. (When in fact if you were given high odds of DS with a quad screening you were then supposed to have an amnio to know for sure.)

Now you have women who get the new accurate NIPT tests, find out they have a fetus positive for DS or another trisomy, and a bunch of morons online (or IRL) who start repeating the old yarn about “my grandma/aunt/friend was told their baby had DS and they were born totally fine”. They don’t understand those women had a totally different type of test or the fact that even then these women were only told they had high/higher odds for a DS baby.
Thank you for clarifying because I did not know that and I'm sure other people don't either. During my childbearing years, the only reliable predictor was Amniocentesis, but it came with more risks.
Fundies like to seize upon those "near miss" stories and use them as half-assed "proof" that "doctors are wrong". It's just more ammo in their efforts to pressure women into having children who are not compatible with life.
 
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