If you are thinking of doing NON INVASIVE PRENATAL TESTING or NIPT read this first. Make up your own mind about if you shouldn’t just bite the bullet and look at the alternatives.
Non Invasive Prenatal Testing (NIPT) involves a simple blood screening that analyzes that DNA (it’s called cell-free DNA, or cfDNA) to pinpoint baby’s risk for a number of genetic disorders including Down syndrome.
We had a NIPT screening done with The Kid that our surrogate is carrying. All scans came back normal (3D, 4D). The bloodtest screening was just an additional precaution that we wanted to take – because it is being pushed by Discovery as a good test to do to find out if there are any problems with a baby in utero.
Well, turns out I might as well have licked a stamp and made up results for the NIPT screening.
The results came back with no Down Syndrome but 99% possibility of Turner Syndrome.
99% is 1% away from 100%
Even in terms of statistics when you say 99% it is almost a dead certainty, fait accompli, room for error only 1%. 99% is a WE ARE SO SURE THAT WE ARE RIGHT that we would put down 99%.
Turns out their 99% chance that The Kid has Turners is 0% correct.
What they should have said was – we screened The Kid for some other abnormalities and we are still testing this out – but we recommend you do another test, we picked x up. Not 99%.
99% = 0% correct
Huh? How did I get to 0% from 99% chance of having a syndrome? Not easily.
Can you imagine the shock and emotional strain this place on us and the surrogate? The stress that a 99% diagnoses put on the surrogate and in turn the baby?
We went to see Dr Clark at Medfem (because in all my years on earth this is the first doctor I trust and respect) and he recommended we do an invasive amniosynthesis to do a final test. My husband drove from Joburg to KZN, made arrangements on that side for the surrogate and drove her to the appointment.
This week we got the results. 0%.
How angry was I?
I was so angry that these people are pawing off this test as a very accurate screening test and that Discovery is also touting it without more cautionary notes attached to it. I was angry enough to phone them and yell at the first doctor at this place. I was angry enough to yell at the top of my lungs and shower them with expletives.
They had the audacity to tell me that this is an international test with international stats. Really, so this test was not yet perfected but you are sending people results that are 99% WRONG? You think that is acceptable?
Why would I react so strongly to Turner Syndrome?
Other than the mental, intellectual, hormonal and physical issues – plus medication for life, a girl with Turner Syndrome will be INFERTILE.
I know what infertility means. I lived it and still live it. It is hell. I cannot and will not sentence someone to that.
Why would you do such a test?
NIPT was developed to screen for chromosonal defects like Down Syndrome. They however screen for a whole host of other conditions. On the Mayo Clinic website they mention (and you can read up about all these syndromes and chromosone issues):
- Down syndrome (Trisomy 21)
- Trisomy 18
- Trisomy 13
- Trisomy 16
- Trisomy 22
- Sex chromosome aneuploidy
- and supposedly Turner Syndrome
Who does the test and how much does it cost?
Your doctor, gynaecologist or Discovery would be able to help you with contact details – I will not refer or recommend “medical professionals”.
They charge R7450 for a NIPT and give you R500 discount if you are with Discovery. So you are still charged a whopping R6950 for this test.