information of diagnosis Down Syndrome

Im in need of information regarding how doctors diagnosis down syndrome and what to expect. Also is a heart defect common and any mothers that could give advice or some information.

This is for family member.

Thanks in advance soo much!!


EDIT:: Her daughter was born today at 1226pm she had some breathing issues and low O2. the doctor looked at her and thought she had DS and maybe a heart condition . So we are curious as to what testing will be done so we can be informed and able to comfort her better!

I'm not sure how they diagnose it, but I do know that they early screening for it is not very accurate at all

The only way to determine 100% during pregnancy is to do an amnio. They test the chromosomes to see how many there are. The blood tests (Quad Screen) that they do is not accurate as it only gives a probability of the child having the disease, even then they refer you to a genetics counselor to get an ultrasound to check for soft markers and you can opt for the amnio from there.

Quoting Buffy♥:" I'm not sure how they diagnose it, but I do know that they early screening for it is not very accurate at all"

Yeah she wasnt told she had an early signs of DS but her daughter was born today and was having some oxygen issues. The doctor looked at her and wanted to test her for DS and a heart Condition. So now we are waiting and im just wondering exactly how they test for DS once the baby is born.

She doesnt seem to have any physical characteristics that we noticed so we are not sure what he saw to think DS. she is mixed and has chunky cheeks, a flat nose and her eyes do seem kind of narrow or slanted but her cheeks are so big we thought it was just that.

Quoting 2Pieces^of^Heaven:" Yeah she wasnt told she had an early signs of DS but her daughter was born today and was having some ... [snip!] ... cheeks, a flat nose and her eyes do seem kind of narrow or slanted but her cheeks are so big we thought it was just that."

Forget my previous comment, I was unaware that she had already had the baby. They should still be able to run a test to check the chromosomes.

Quoting ZenMama:" Forget my previous comment, I was unaware that she had already had the baby. They should still be able to run a test to check the chromosomes."

is it just a blood test and how long does it normally take? They just told her that they were running test and her heart diagnosis would come back tomorrow.

I don't think anyone else answered this question, but yes I think babies with down syndrome do often have complications with their hearts. Not 100% but I have heard that before.

<blockquote><b>Quoting 2Pieces^of^Heaven:</b>" is it just a blood test and how long does it normally take? They just told her that they were running test and her heart diagnosis would come back tomorrow."</blockquote>


I'm not 100% sure that it is a blood test, it may just be a swab so they can test the cells to see how many chromosomes she has... I can't remember which it is, Downs is when there is an extra chromosome (21... I think... I'd have to look it up). The results shouldn't take too long, I had an amnio to test for Downs with my younger son and the conclusive results took about a week... preliminary results took a couple days. The poster above me is correct,though, often times heart problems are present with Down Syndrome.