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Hi
I am writing on behalf of my sister who is currently living in Spain.
She recently had a 12wk scan combined with a 14wk bloodtest which came back 'High risk' for Down syndrome - I pressume.
She is reluctant to have an amnio, wishes she didn't have the test etc.
Does anyone have advice about the testing process and how they derive this rating?
ie. accuracy?
She has had one healthy child already in Australia with no complications etc.
Thank you.
The tests come back as a certain chance of having a baby with downs. So say for eg. 1 in 12 chance is pretty high. This will be based on her maternal age, her bloods and the nuchal fold at the back of the babies neck. It is really up to her if she waants to have an amnio. I would suggest she does, its hard enough bringing up a baby than bringing up one with a disability, so she needs to be prepared.
Yes Amnio's can cause a misscarriage but its a very low risk and atleast then she will get the answers she wants.
At the end of the day it is up to her...
ps. Are you able to tell us what her results were???
Yes. She wrote 1 in 220 so perhaps that isn't as alarming as it seems (?)
She said in Spain, anything under 300 is classed as 'high'.
Thanks for the info.
yeh its about the same here.. i was just using 12 as an example.
Does she know what the nuchal fold was?
High risk is usually given if the results indicate a risk of greater than 1 in 300 that the child has the condition. In Australia, people are usually given the actual figures (e.g. 1 in 241), and your sister should be able to request this number.
Approximately 5% of women receive an increased risk result following screening.
The rating is a combination of the mothers age, the measurement of the fluid at the back of baby's neck and measurements of chemicals in Mum's blood.
Chromosomal variations (such as Down syndrome) occur more often in older mothers. Babies with chromosomal variations can have increased fluid at the back of their neck (this can also be seen in other babies). The chemicals they look at have been found in higher/lower concentrations in Mum's who are carrying babies with chromosomal variations. It is the combination of all these things that gives the rating.
The high risk number (1 in 300) is only used because they balance it against the risk of losing a baby following confirmatory testing (CVS or amnio). The stated risks of losing a baby following CVS is 1 in 100 (1%) and following amnio is 1 in 200 (0.5%)
You can get more info on screening here
VCGS Pathology
and there is a brochure at the bottom of the page that has a pretty good explanation.
No. she didn't say about the nuchal fold measure.
I am thinking of advising her to perhaps get a second test in the UK.. Then at least it is an English speaking country whereby she can ask specific questions and get in depth answers without language being any barrier.
i don't know how feasible this is the further along the pregnancy progresses but it is easier and more affordable then coming back to Aus. which probably isn't an option anyway.
She probably wont be able to have the test done again as it's a time specific test. If she's worried about the result then she needs to think about having an amnio or CVS. Amnio has 1/2 the risk of m/c than what CVS does. Despite already having had 3 miscarriages I went ahead with the amnio as my risk of having a m/c was way less than my risk of having a DS bub was (1/37).
The test she's had done is not a diagnostic test - it only gives a risk factor therefore there's no such thing as accuracy as such. A result of 1/220 means that out of 220 women with the exact same results as hers one will have a DS baby & 219 will not. The test cannot say which of the women will be the one to have the DS baby. The only way of knowing if it's DS or another trisomy is to have the amnio or cvs.
I found the amnio itself to be no big deal - no worse than having any blood test done.... no pain, but the wait afterwards to see if you will m/c or have a bad result is really bad, but probably easier than spending the rest of the pregnancy worrying about it.
Satya's right on the nut.
My risk was 1:2 - REALLY bad.
I had the amnio and the worst part of the whole procedure was waiting two weeks for the results. Even with my very high risk, it all came back fine and the baby does not have DS.
I would recommend an amnio to anyone. They look and sound bad, but they're really not that awful. You just have to ensure you take it very easy for a couple of days afterwards. I took three days off work just to be sure.
It's all about your sister's personal choice. Her odds seem very good to me - well, compared to how mine were anyway.
Thanks guys, I really appreciate your input.
-Really good to know.