So, how do we screen for patients with Down syndrome?
It is common especially in mothers on advanced age
to do standardized routine screening for Down syndrome.
Generally, we will try to screen in the first trimester,
or in the second trimester we can do the triple or quadruple screen,
that?s very important.
Also, we can do a level II fetal ultrasound.
Screening identifies infants who are at risk for potential Down syndrome.
It is not diagnostic, and there?s an absolutely false positive rate.
If they don?t want to ever do invasive testing,
there?s a probably no role for screening.
But if they do want to do invasive testing
then the screen is a reasonable thing to do
because the next step would be to invasively test
and see if that infant truly has Down syndrome.
The way we would do definitive testing in the utero
is generally through chorionic villus sampling
this happen around 10 to 12 weeks of gestation
or we can do amniocentesis around 16 to 20 weeks of gestation.
The idea is we're going and getting actual cells from the actual baby
and then doing karyotype to figuring out what their genetic potential is.
So, we're gonna send that for karyotype.
Here?s a karyotype, this is how we would confirm a diagnosis
or doing a utero diagnosis.
It confirms a centrally whether the patient has either a translocation
or as a de novo 3 copies in the cell.
So, patients with Down syndrome have a longer
and longer life expectancy now in the United States.
As we saw in 1983 the average life expectancy was 25
and then in 2002 it was 49.
A lot of these came from better standard therapies
for a lot of the complication of these children.
We have to attend to their hearing loss and give them hearing implants
or hearing aids if they?re having a problem with hearing.
Of course, we're gonna treat their hypothyroidism aggressively.
One final complication in adulthood that I like to mention
is early onset Alzheimer?s disease,
this is very prevalent
and it happens in about 10% of 50 year old with trisomy 21
and even 75% of 60 years old with trisomy 21.
It happens because the Amyloid Precursor Protein gene or APP
is actually on 21st chromosomes.
So, they have genetic pre-disposition to early onset Alzheimers.
Before I close,
I wanna say something in general about patients with Alzheimer.
These children tend to be extremely happy,
extremely loving, and wonderful to parent.
They live amazing and positive life and they have great attitude.
It?s really interesting that these children leave such happy lives.
One wonders if in many ways it might a blessing for a child with trisomy 21.
It?s something we should support these families,
we should give them all the medical support they need
and the social support they need.
But recognized that these children are valuable contributors to society.
They're wonderful kids.
Thanks for your time.