[tri-wings] Re: Non-Invasive Direct Testing

----- Original Message ----- 
From: "Demi Powell"
>> They are reporting it on our news as only applicable to Down's Syndrome, 
>> but I wondered if it would be used for other things.

Its only usegul for chromosomal anomalies - so Down Syndrome and other 
trisomies. The research showed 100% accuracy for picking up T-18.

> Whats the script with the pre-natal testing in Oz?

The official policy is that every woman gets an ultrasound at about 18 
weeks. Women over 37 get a triple screen and nuchal translucency. However 
the reality is that most women get the triple screen and NT. The wrong part 
is that most have the tests and certainly arent aware that they are even 
being done or what they truly mean.

>>Here's its a total lottery of where you live.  Where I live you get AFP 
>>tests and two scans, one detailed one at twenty weeks.

AFP? Are you sure its AFP or is it the triple screen? If its AFP alone I 
need to talk with you off list!!

>>You can also get CVS if you know about it, but they don't offer it 
>>routinely.

Definitely not offered routinely here and I don't believe that it should be. 
Its still not directly testing the babies chromosomes.

>>About 40 miles north they only get AFPs and a dating scan.  However if you 
>>live forty miles East, they have a national screening centre so they get 
>>the new system where you have the nuchal fold scan and some blood tests, 
>>followed by a 20 week detailed scan / amnio.

And thats what I find sadly funny - the whole triple screen stuff came from 
the UK in the mid 80's.

> I recently went for an antenatal appointment with my young friend, where 
> the LEAD consultant obstetrician described the AFP as follows:  "Well its 
> in the leaflet. It tells you if the baby is disabled.  You have to have 
> it.  Whats the problem, there's no risk".  IMMENSELY HELPFUL.  And totally 
> inaccurate.

I was recently talking to a woman who assured me that her baby didn't have 
asthma or autism because she had had a triple screen.......

> They've been reporting on the news that in the UK, the risk of miscarriage 
> from amnio was up to four times what doctors were routinely quoting 
> parents.  I think they worked out 300 non-disabled babies were lost per 
> year through amnios  . . . .they probably don't bother to count the ones 
> that DID have a trisomy but were also lost through miscarriage.

I think a lot of the stats are wayyyyy off. Miscarriage following an amnio 
is so very subjective and very few doctors are going to admit thats what 
caused it. Most are going to say it "was going to happen anyway" or just 
that it was "unrelated". And there is no mandatory reporting.

After watching a report on laboratory conditions in the US I recently delved 
into our labratory accreditation - I was horrified!! And similarly what 
check is done to ensure that the stats with chromosomal testing being 99.7% 
accurate - none. According to our stats here Alex chromosomal test was 100% 
accurate that he didn't have a trisomy. There are either insufficient or no 
checks and balances for what we are told. Thats scary.

> Its hard to know whether this has the potential to be a positive thing or 
> is just going to be another tool in the genetic engineering of humans, 
> till we'll ALL perfect!

My feeling - its the latter. Cuckle and Wald, the two British guys who 
pioneered the triple screen make no bones from the beginning that the aim of 
the triple screen was to develop a better way of picking up anomalies so 
that the pregnancies could be terminated as early as possible. The question 
about parents being asked didn't enter into the discussion for 8 or 9 years.

Life consists not in holding good cards but in playing those you hold well.
                                            -- Josh Billings

Keep Looking For Rainbows!!
   _--_|\
 /Karen \
 \ _.--._ /
          v Karen, Mum to Alex (14 years, T-18 Mosaic)
http://members.optushome.com.au/karens

                  Building ___ooOOoo__ Rainbows
                       www.trisomyonline.org
                  Families Helping Families On-line

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