downs syndrome testing

Hi,

im desperately looking for the paper you recommended on Down's syndrome...but i cant find it anywhere...please could you upload it?
thanks x

I am losing sleep over how one would approach the subject of termination in patients who are given diagnosis of a serious congenital condition, such as Down's. Obviously compassionately, but what is a good phrase to use?

Thanks

SR

http://www.ds-health.com/benke.htm


TRISOMY 21 (Inc. 92%)
Non Disjunction
(entire extra chromosome 21 in ALL cells) May happen in subsequent pregnancies
The risk of DS does not appear increased in siblings of trisomy 21 individuals

MOSAIC TRISOMY (Inc. 2-4%)
Child has two populations of cells, the trisomy 21 cells, and a second cell line usually normal. (46,XX or 46,XY).
Milder type
May happen in subsequent pregnancies
TRANSLOCATION TRISOMY
(3-4%)
A Robertsonian translocation is formed when one chromosome 21 attaches to another chromosome, forming a single new, chromosome.
t(14;21)
May be:
Balanced ( One 21, one 14)
May be the carrier parents
Unbalanced (One 21, one 14 and one t14q21q)
= Downs syndrome

An example....
' Dear Mrs. xyz,

I have recieved the results of the tests that you had undergone recently. As you are aware the screening had shown a high risk of an abnormality and that was the reason you had opted for the definitive tests...
The tests unfortunately confirm what the screening was indicating towards....
I can only say how sorry I am to be the bearer of this bad news to you...
If you need time , I can come back after a little while...Is there anyone I can ring for you?

The options ahead are either not to do anything if you so wish.Downs fetuses can remain viable throughout the pregnancy.
However, if you were to consider a medical termination of the pregnancy with the view that such a pregnancy will lead to a deterioration in your mental health, that can be discussed further....
There is a counsellor who can come up and discuss this in detail with you before you make a decision...
offer the helpline number...
be as empathetic and supportive as possible...
involve all support resources such as literature, websites, helpline, etc

Thanks for that - enormously helpful. Will definitely be able to sleep now.

Just a thought - would termination in a Down's case only be appropriate at if there is risk to maternal health? And not because of the serious physical and mental handicap of the child?

What about in the testing for haemoglobinoapthies - do they satisfy the disability of the potential child?

Thanks.

SR

In any case of congenital abnormality which will lead to a severly disabled fetus, detected before the age of viability, the parents have the right to refuse any intervention to terminate the pregnancy...
On the other hand, as in most countries in the West (except Ireland I think) termination of pregnancy is illegal. Medical termination is allowed in these countries under one of 4-5 clauses...The one most comonly used is that continuing with this pregnancy and resulting in a disable child is detrimental for the mothers health (mental i.e.)
You need to look up the consent for TOP as well to know these clauses....

Tutor Online.. Do you have any reference for the aforementioned paper on DS?

Look up translocations down syndrom in wikipedia.....

Hello,
Would you ever consider recommending for an amnio after a CVS?

look i made it a 100 views!

If CVS has been done sucessfully there should be a definite result hence there should not be any reason for any further testing for definative results...
However if there is any doubts about the procedure not done properly or the report suggests insuffecient material...then you may have to discuss that case in an MDT on individual merrit