8 ms·
My wife and I went through this a couple of years ago, with a 10 week NIPT calling a rare trisomy (chr 9), which is always fatal within a few weeks of birth. I
by siganakis 5y ago
My wife and I went through this a couple of years ago, with a 10 week NIPT calling a rare trisomy (chr 9), which is always fatal within a few weeks of birth.
It was absolute hell. The key problem here is the waiting and uncertainty. You have the NIPT at 10w, but you can’t have the amniocentesis until several weeks later. When that came back fine, there were questions about whether it was a “mosaic” meaning only a small proportion of cells are effected. We were only really in the clear after the 20 week ultrasound.
That’s a lot of weeks to be consumed by wondering about whether to terminate the pregnancy, or wait it out for more information. I have a masters in bioinformatics (in genomics!) and my knowledge of stats and the science was next to useless in the face of these decisions.
I know of couples who simply couldn’t deal with this uncertainty and chose to terminate on the basis of this test alone.
Fortunately for us our child was fine and is a perfectly healthy 18 month old now, but I wouldn’t do the rare trisomy test again.
- bjt2n3904 5y agoSo glad to hear that things turned out well for you and your family.
- raymondh 5y agoThank you for sharing this.
- tinbad 5y agoHaving gone through two twin pregnancies (where the odds of these tests being correct are especially low) we declined all of them. Anecdotally, I know of several parents who had a positive test for genetic disorder, went ahead with the pregnancy anyway and children were perfectly healthy. Until these tests are close to 100% reliable I don’t see the point.
- CorrectHorseBat 5y agoThe point is that it is a screening test. A positive test will be followed by a more invasive test that has a lower false positive rate.
- deleted 5y ago[deleted]
- sundvor 5y ago"The good news is that the invasive test proved the screener was incorrect. The bad news is that it looks like you've now lost your baby. It was fine though!". The risks associated with this extended testing are just not worth it, perhaps aside from Down's (from a numbers point of view). Even then, there are many completely gorgeous children and people with Down's .. chances are you'll have a curveball in life one way or another at any rate. I have two children, one diagnosed with ADHD/ASD, the other likely not too different but too early to tell. Apple doesn't fall too far from the tree. Wouldn't change a thing, other than to avoid the ABA services companies like plague - they prey on your insecurities and you might face financial ruin for possibly no real benefit to the child if you go along with their spiels. So, to see medical companies exploiting vulnerable new parents who will do anything for their children? I am shocked. (/S...)
- CorrectHorseBat 5y agoYou are free not to take the test, but I think we would have taken the 0.3% risk to see if it is really Down's. While children with Down's can be gorgeous, I am not up to the task.
- sundvor 5y agoWe did get the test for it for my two; can't recall if we did any extra ones. Believe we skipped them, at least on the 2nd. I've come around to maybe change my mind since then, however I'd need to be in a very good position to be able to be up to the task. I truly wouldn't have been, the ASD diagnosis was hard enough - and made magnitudes harder due to the manipulations of the "autism industry". Do this, do that, or else - you only have one chance for an early intervention, so better throw your own life away or you'll be a bad, bad parent.
- d0mine 5y agoTests (the consequences) are not harmless e.g., https://empowertotalhealth.com.au/new-study-on-screening-mammography-shows-more-harms-than-benefits/ https://empowertotalhealth.com.au/new-study-on-screening-mam...
- XorNot 5y ago"it worked out fine for me" is not particularly reassuring when the alternative is a lifetime of medical bills and possibly a permanent dependent.
- deleted 5y ago[deleted]
- tagoregrtst 5y agoThe alternative is loving a human being and playing the cards you’re dealt
- bpodgursky 5y agoThe alternative is to take the same energy you'd spend on that one unlucky human being and spend it raising 3 healthy children who will go on to live full lives. Parenting is an enormous time investment and families that take on the burden of raising disabled children almost universally reduce their family size. This is not a decision without cost, to those who lose their chance at life.
- oneoff786 5y agowith one of those cards being a lifetime of medical debt
- deleted 5y ago[deleted]
- tagoregrtst 5y agoThats a political and social problem, not an ethical consideration.
- oneoff786 5y agoSo what?
- honkycat 5y ago
- subpixel 5y agoOur experience was kicked off by a troublesome ultrasound and then confirmed by amniocentesis. The tragedy of receiving news like this is probably fathomable, but I think it may be hard to grasp the emotional and intellectual agony of deciding whether to terminate a pregnancy based on a set of probabilities. It breaks my heart to think that parents face this decision with erroneous data.
- sundvor 5y agoI hope you are doing ok; truly sad to read. Agree 100%.
- dzhiurgis 5y agoDid you repeat NIPT test?
- da39a3ee 5y agoWhy was there doubt surrounding an entire chromosome trisomy? My understanding was that it is easy to have high confidence about that since allele frequencies in the sequence reads are skewed across the entire chromosome.