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Down Syndrome Risk/Cause/Treatment Information for Parents seeking it.
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Down Syndrome Risk/Cause/Treatment Information for Parents seeking it.

This post is for those women who come to medhelp seeking answers. You may have recently gotten a positive AFP or triple screen test. These tests can ONLY tell you the odds of having a baby with a chromosomal abnormalitiy. It's normal to be scared, worried, anxious... I've gone through it all. My name is Cindie, my husband and I are I am 22 years old parents of a 9 month old son named TJ with down syndrome.  Feel free to message me with ANY questions, but hopefully this'll answer any you have. Check out my profile, my pictures and see how wonderfully my son has done!

The one I'm focusing on in this post is Down Syndrome, also referred to in this post as D/S. Down syndrome is also known as Trisome 21 or 3 copies of the #21 chromosome.  The embryo normally has 46 chromosomes. half from the mother half from the father. In Down Syndrome, either prior to conception or at the moment of conception, a third copy of the #21 chromosome is formed and then transmitted to every cell in the fetus's body.  It is possible for the mother to carry an extra chromosome in an egg cell or a father to have it in a sperm cell... but it's not fully known.  There are NO ways to prevent down syndrome, and nothing that causes it, not drugs, alcahol (alcohol), nothing other than pure luck.

Mothers under 35 typically have a very low risk of D/S. around 1:1000 or more, however mothers over 35 have a higher chance of D/S. in reality %80 of babies with D/S are born to mothers UNDER 35 due to the fact that we have more children.

There are 3 kinds,  Typical D/S with that extra #21,  Mosaic where the extra chromosome is present in some cells but not others. This type is thought to be less severe. And a translocation which often results from a translocation a parent carries. This happens when an extra piece of #21 chromosome is located on another chromosome, usually #14 for some reason.   only %1 of D/S cases are Mosaic.   if a parent carries a translocation but no signs of D/S it's known as a balanced translocation and they have a %25 of passing it on to a child.  These people will usually have a family member with D/S. (sister or brother)
Down syndrome used to mean that these children were placed in an institution. This is no longer the case. These kids can grow up to become actors,  graduate high school, college, and get married. The majority of D/S cases, around %90 function at a moderate to high level. A minority group is considered "severe".  There are PLENTY of different treatments for the various health problems that are associated with D/S. There is mainstream schooling. there is HOPE!!! You child will grow up to be a wonderful, healthy adult.  

Some women have a risk of 1:200 or 1:300.... think of it this way, this means that you have only a 0.05-0.005% chance of a baby with down syndrome.
Or possibly you may have gotten a test that indicates much higher chances like 1:25 or so.  

Did you know that %90 of babies with down syndrome are never given life?    

Much of the time it is due to those women being uneducated about the truths of Down Syndrome.

The purpose of this post is to give those of you struggling with a possible diagnoses information so you can make an informed choice about your pregnancy and your child.
  There are several tests that can be done to determine if your carrying a baby with down syndrome other than the AFP or triple screen.

CVS~ Chorionic Villus Sampling:
This test is done from 11-13 weeks and is performed with a needle through the abdomen into the placenta. they remove a piece of the placenta to test for the number of chromosomes. Risks for miscarriage average about %1-2. This test is %99.9 accurate. this test also carries a risk for possible limb reduction as the fetus is so tiny during the test.


This test is done after 16 weeks of pregnancy. They place a needle into the abdomen and into the sac of waters surrounding the baby. They remove a couple syringes of amniotic fluid. They take a cell or cells from the fluid that are from the baby, break it apart and dye the chromosomes. They then separate and count them.  This test is %99.9 accurate. There is a approximate 1:100-1:300 chance of miscarriage rate for this. Most women are told to take tylenol for any pain (it's painful at the time of the test but not too bad afterwards) and told to rest for 24hrs, no heavy lifting and not alot of walking.  

Level 2 U/S~

This is a more detailed Ultrasound that is used to look for "soft markers" of down syndrome. Usually a spot on the heart, a large stomach circumfrence, or head circumfrence. Having only 1 or 2 of these does NOT mean your child will have D/S.  The ultrasound usually catches anywhere between %40-60 of cases of down syndrome accurately.

Fetal Echocardiogram~

This test is done if a baby is suspected of having down syndrome. %60 of children with down syndrome have a heart anomaly of some kind. Usually an ASD or VSD which is a hole between 2 chambers of the heart. Much of the time medication  and age can close these holes.  A single heart issue by itsself does NOT mean your child nesessarily has Down Syndrome.  Some baby's do undergo Open heart surgery. my son had it at 2 1/2 months old, and came through fine. he later had a complication of infection, but it was partly related to another issue he has.

In my personal opinion, I'd suggest that if you have positive AFP, or Triple screen results, and some positive findings on a level 2 U/S... that if you need for peace of mind, go ahead with the amnio or CVS.   it is normal to have feelings of dread, of fear, of every emotion out there...  Just know you can get through it.

there is a Down Syndrome Board here on medhelp. As I'm not positive that it's ok to post that link, please send me a private message and I'd be happy to send you the link as well as many other reasources for down syndrome.
I hope that this post offers you information, hope, and most of all peace of mind.  no question is dumb, not even the really contraversial ones. Feel free to write me and ask away. If I don't know the answer I'll find it for you.

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5 Comments Post a Comment
Cindie- WONDERFUL post and information! You are welcome to post links to another MedHelp community (we just can't post links to boards outside MedHelp).
Joy~ Thanks. I put alot of thought into this post before I wrote it and when I contacted medhelp they just said to ask you. :) lol
Cindie, this is a great post!! Very informitive. I know it will help alot of woman looking for answeres:-)
Blueeyedtabbycat~ Thanks. That's my hope too.
I'm bumping for the person with the positive NT measurement test.  A positive NT is only a SINGLE marker that can be looked at. It doesn't mean D/S nesessarily.
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