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definitely a lot less than amniocentesis ...... also, a lot of high risk pregnancies do not go the route of amnios because of the very real miscarriage risk or are deemed too high risk to perform such a procedure ....... it's less risky than CVS tests, but still a lot riskier than sampling urine once born
they can opt for nuchal translucency testing, level 2 ultrasounds, triple screens, quad screens, AFP and other bloods tests, etc
Why mandate the testing? I think that many, if not most, high risk pregnancies will have an amniocentesis, but if the parents are of prime age and do not have risk markers, it doesn't necessarily make a lot of sense mandate a considerable extra expense that is prone to false positives and isn't completely without risk.
Many of the disorders that are tested for on newborn screening are not detectable by amnio and many, many healthy pregnant women do not have an amnio done.
Some disorders, such as galactosemia, PKU and MSUD can have tragic outcomes when they are diagnosed after the baby is already symptomatic, but can be well managed if diagnosed in the early newborn period before the baby shows signs of illness.
Parents need to be clear that these tests are just a SCREEN - all screening tests will pick up some false positives and further diagnostic testing is in order.
I understand some parent's hesitancy about vaccines, medications... but newborn screening is not an area to hold back. You want to provide a baby with the best chance at an early diagnosis in order to result in the healthiest outcome.
However thanks to the innovative tool of neonatal(newborn) screening, newborns can now be screened for the possible occurrence of these disorders, by merely testing their urine. Early diagnosis is a key for preventing the occurrence of such life threatening conditions.
I don't know about making it "mandatory." Are vaccines considered "mandatory"? If so, and it is still possible to opt out, then the same would be true for newborn screening. I don't remember being asked if we wanted it. I remember being told there was some kind of routine testing to be done. I had a c-section so I was pretty out of it. It would never occur to me to skip something like that. The benefits outweigh the risks by far, IMO.
First off, I'm pretty sure newborn screening is done by blood test, not urine (you know the heel stick?).
But I completely support screening. My good friend's child was found to have biotinidase deficiency through the routine newborn screening. They had no idea that their child was at risk because it's a recessive gene and it's extremely rare (1/60,000). Because their child was diagnosed through this screening, they just have to give him a biotin vitamin every day and he is fine and exhibits no symptoms at all. If he had not been diagnosed until he was symptomatic, then certain aspects of the disease would be irreversible, even with treatment.
another point is that if the child has these concerns they will develop and they will show ....... you'll have to deal with it at some point and probably when they are still very young in age
and when you deal with it you'll still be "in the system" so to speak, so any perceived problems are still going to present themselves as it pertains to insurance, etc
i see no reason to not get as much of a jump as possible
Ref: Finger laker
That is a very valid point buddy. I mean to say that when someone can care enough to look after proper diet, timely vaccines, etc to ensure that their child secures the healthiest future...then why not take the effort of screening him as well.
Seriously though, if I new what problem was going to occur with my newborn,,,why not have the appropriate medical staff standing at my side when I deliver? To intervene right then and there? Give my baby the best chance at beating whatever ailment presents? Of course! Give me all the info I need to prepare myself, my family and my doctor...
Ref: Danielle
If you do not mind, could you let me know the country of your residence, so that I can give you a proper advise pertaining to that.
But for all but about five or six of the disorders they test for it isn't even known whether the treatments help. And many times a baby will test positive but never show signs of serious disease. I've read that there is a fear that children with mild versions of illnesses will be treated needlessly and aggressively for more serious forms and suffering horrible health consequences because of those treatments!
If you look back at the PKU testing some of the babies who tested positive where treated for a disease they didn't even have. In fact they had a DIFFERENT disease where a different MUCH safer treatment should have been used. instead many children suffered because of the "diet" treatment for PKU when they didn't even have it thanks to the test.
IN the 1960s or 70's, every hospital in the country screened premature babies for acidic blood and treated them with bicarbonate of soda.
However it was discovered that babies who got bicarbonate of soda actually did worse and, in particular, had more brain hemorrhages, which can cause devastating brain damage!
And what about parents who are paying a co-pay or out of pocket? These tests can cost anywhere from $70 ot $200 not to mention the cost for uneccesary treatments listed above!
If some of these diseases are genetic wouldn't you see a person possibly in your own family with them? And if you were high risk for passing them down of course it would be benificial to screen.
As long as these tests are NOT mandated I see no problem with a parent deciding it is best for their family/babies.
Ref: Miasmommy
I do understand your concern when you say that there are problems of cases being misdiagnosed, or milder versions being treated by heavy drug doses leading to side effects. However what needs to be understood is that here we are speaking about a screening procedure and not a diagnostic procedure. To detect a pre-existing problem is simple enough (diagnostics), however to identify a problem that may bump in the future is difficult (screening). It is hence that no screening procedure can ever be 100% accurate, and depending on the technique used it ranges from 95-97% accuracy.
Another fact is that scientific technology within the world has evolved from performing surgeries using a sharp stone, to the current utilization of high end equipments. When PKU was identified, and a therapy was prescribed, it was still at its infancy. Hence though a number of cases were identified and treated, there was a larger number of cases who were misdiagnosed and hence treated wrongly. The situation has improved many fold today. Companies have been using heel-prick blood for screening, however the latest technology in the limelight is the usage of the newborn urine for the screening. Dont you think, technology is evolving into a more people friendly version????
Why mandate the testing? I think that many, if not most, high risk pregnancies will have an amniocentesis, but if the parents are of prime age and do not have risk markers, it doesn't necessarily make a lot of sense mandate a considerable extra expense that is prone to false positives and isn't completely without risk.
Ref: Jimboburnsy
You have got the concept wrong buddy. First of all, usage of amniocentesis as a diagnostic technique is dipping in the current world, primarily because of the invasive approach being utilised. Secondly, using the amniotic fluid you can just detect a short list of syndromes, and neural tube defects. It is not possible to detect metabolic disorders using the amniotic fluids, because of technical problems
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