Re:My daughter's disabled. Please don't look away from her
by IanCal on Friday March 23, 2018 @10:23AM
(#16658431)
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.
Re:My daughter's disabled. Please don't look away from her
by GordonS on Friday March 23, 2018 @11:08AM
(#16658902)
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.
Re:My daughter's disabled. Please don't look away from her
by IanCal on Friday March 23, 2018 @01:08PM
(#16660278)
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.
Re:My daughter's disabled. Please don't look away from her
by GordonS on Friday March 23, 2018 @01:50PM
(#16660732)
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.
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