I recall when we were pregnant with one child, our pediatrician told us that the test to detect <a bad thing> had a greater chance of _causing_ some other kind of damage than the chance of our child having the <bad thing> (I forget which). So, please consider that the parent made the best choices they could, and sometimes that means judging the risk of damage versus the chance of having some condition that could have been discovered by a test.

Like other common chromosomal defects, T18 can be detected with a routine noninvasive first trimester ultrasound screening with 95% recall.[0]

Assuming someone received common prenatal care, this would have been detected, at which point termination would have been discussed. If you have the facts, you make the choice of whether or not to have severely disabled child. And make no bones about it, refusing to choose, is a choice.

While we're discussing this, it's important to mention that prenatal screening can only occur late in the first trimester, or more typically early in the second trimester. It's impossible know if physical abnormalities will develop, until they actually start to develop, and that just takes time.

If a screening test indicates a defect, you need to come back for a more detailed diagnostic test. Assuming you can schedule the tests and get the results back quickly, you're hitting up against 20 weeks.[1] 20 weeks -- not coincidentally -- is time that anti-abortion activists target banning abortions.

[0] https://christianacare.org/services/baby/maternalfetalmedici...

[1] http://www.slate.com/articles/health_and_science/medical_exa...

First trimester ultrasound screening is far from perfect.

For a 30-year old woman, the T21 detection rate is only 84%[1] - and the false positive rate is high at 4%. As age increases, so does the false positive rate - up to a whopping 67% at 49.

So even if you were told the test detected T13/18/21, a decision to terminate the pergancy could mean terminating a healthy fetus. A terrible decision to make.

But there is some better news - there is a relatively new screening test, the so called "Harmony Test", which is a type of non-invasive prenatal test (NIPT) that involves drawing blood from the mother and looking at the fetal DNA that is present[2]. For the most common genetic disorder, T21, the false positive rate is less than 0.1%[3], or 0.3% for all 3 disorders combined[4].

However, at least in the UK, the test is only available privately for around £400.

[1] https://www.ncbi.nlm.nih.gov/pubmed/11702835

[2] https://fetalmedicine.com/harmony-test

[3] https://sequencing.roche.com/en/healthcare-providers/nipt/fa...

[4] http://www.rapid.nhs.uk/guides-to-nipd-nipt/nipt-for-down-sy...

I didn't make clear in the first paragraph, but ultrasounds are screening tests, not diagnostic tests. The expensive blood tests are diagnostic.

Screening tests are inexpensive, low risk, high recall (i.e. high true positive) tests meant to indicate if high precision (i.e. low false positive, low false negative) test is warranted. Often the diagnostic tests are more invasive, potentially riskier, and more expensive.

I get what you mean, but personally I find the accuracy of the 1st trimester ultrasound to be so poor as to be unhelpful.

You can now test fetal DNA fragments in maternal blood (cffDNA) to detect trisomies with high specificity and sensitivity-- though a positive result is only ~50% confidence, and needs follow-up screening with a riskier method for confirmation. The 0.7% miscarriage risk from follow-up CVS or amniocentesis is more justified in that case.

http://www.nejm.org/doi/full/10.1056/NEJMoa1311037

The child in this article is 15, so in 2003 did we have the sophisticated tests available that are as easily applied?

Additionally, whilst testing has become better, it won't catch everything unless we look for it specifically. There are mosaic mutations that are incredibly difficult to spot and many other chromosome conditions that we are only now able to define because of our more capable tests (http://www.rarechromo.org/disorder-guides).

Finally, no one 'decides' to have a disabled child. I don't know what you actually meant to convey by your comment. Perhaps a judgement on the impossible decisions parents of children with disabilities wrestle with, perhaps a dismissal of all people with disabilities because testing means they shouldn't exist.. I can't quite understand it.

just to respond to a specific part of your post, people can decide to adopt a child with a disability.

ah.. of course, yes.

I was just responding to the specific language in the parent post that seemed to convey that the author of the article knew about the disability and 'decided' to have the child regardless of this 'fact'.

Of course, there are some wonderful wonderful people in this world who find themselves being adopted by equals.

Just remember that neither the parents or anyone here is asking for any kind of mercy. You are talking about something that has nothing to do with the article. The article is asking for humane treatment and you basically say that she could have been aborted. Maybe you need to check your empathy.

This comes across as dismissive, insensitive, judgmental, and even cruel.

Firstly, you don't know if it was detected prenatal. Secondly, unless you've been there (I haven't) you cannot possibly know how difficult and heart-wrenching a decision that must be.

The typical test done in the UK at least only tells you the chance, and cannot always be performed. The only test that gives you certainty also carries a risk of miscarriage.

It is not as simple as you make out.

> The only test that gives you certainty also carries a risk of miscarriage

Not true any more[1]. See my other comment in this thread about the Harmony/NIPT test (it's not available on the NHS tho, but is widely available at a cost of around £400).

[1] https://fetalmedicine.com/harmony-test

I think the detection rates are significantly different. Your link shows that for trisomy 18 there's a 3% false negative rate with the Harmony test. I think the false negative rates are significantly lower for CVS.

CVS is indeed very accurate (97.5-99.6%[1]), but still has a false positive rate of ~1%[2]. But as you noted, CVS has a small risk of miscarriage, and for that reason many couples wouldn't even consider it.

Of course I can't speak for everyone, but I would guess that for most couples the biggest concern is T21 (it is the most common of the three), and the NIPT test is 99% accurate for that. Balancing the risks, and false positive and negative chances of NIPT vs CVS, NIPT seems more valuable to me.

[1] https://patient.info/doctor/chorionic-villus-sampling-pro [2] Mayo Clinic Complete Book of Pregnancy & Baby’s First Year. Johnson, Robert V., M.D., et al, Ch. 11.

Thanks. Are there figures for the false negative rate? I was struggling to find those.

It's certainly a reasonable option, but the context of the original comment saying that the parent would have known (or had the option to know) that the child had T18.

I didn't find false negative figures specifically mentioned as such for CVS or NIPT, only accuracy and false positive. I've assumed false negative == 100 - accuracy, but in reality results might also sometimes be "uncertain", which wouldn't count towards the false negative rate.

This comment comes across in a very callous way.

Also remember: virtually none of us have been in that situation, or know the context, so any kind of judgement about it is ridiculous.

Do you know it _was_ detected? Seems at least possible there was a false negative.

Ignorant and unnecessary.