You have arrived at this page because your doctor has recommended screening or may suspect that the child you carry – or being carried by a friend or loved one – may have Down syndrome.
You are likely troubled. We would like to offer hope where many people see none.
We hope because the only thing we all know for sure is that a baby is on the way and babies are all packages of everything in life just waiting to happen.
For now, let’s focus on the facts.
Facts About Screening
There are currently two types of screenings that your doctor may recommend. Screens are not tests nor are they diagnostic in nature. They are only used to determine whether further, more invasive, testing is necessary.
The one screen your doctor will likely recommend is a Quad Screen between fifteen and twenty weeks. This simple blood test is recommended for all pregnant women, regardless of age.
An ultrasound, around ten to fourteen weeks is also common. The ultrasound is used to measure the size of the clear space in the tissue at the back of the baby’s neck. This is called a nuchal translucency.
Both of these screens yield about a 60% accuracy rate. Again, the screens will not give you definitive answers; they give you a probability that your baby may have Down syndrome. Further testing will be necessary to give you a yes or no for a diagnosis of Down syndrome.
If the screening test results show there is a high level of probability that your child may have Down syndrome, an invasive, diagnostic test typically done in consultation with a genetic counselor will be recommended.
Facts about Tests
There are two such tests which are typically recommended – a chorionic villus sampling (CVS) and amniocentesis. Both tests are invasive, and you should know that they carry a small risk of miscarriage. During an amniocentesis a sample of amniotic fluid is withdrawn using an ultrasound-guided needle. An amniocentesis is typically done after fifteen weeks. During a CVS a sample of the placenta is taken, also withdrawn using an ultrasound-guided needle. A CVS is typically done between ten and twelve weeks.
Please consider, this is coming at you now because you are in an early stage of your pregnancy. One reason to test so early is that you may decide to terminate your pregnancy if Down syndrome is confirmed. If you do not consider that an option, an amniocentesis or a CVS are not absolutely necessary, but would confirm the diagnosis and give you the opportunity to prepare for your baby.
Your decision, either way, should be respected.
There is also now an alternative available to an increasing number of women – a prenatal test for Down syndrome which may be applied via a blood draw early in the pregnancy. Using advanced genetic and nuclear science, these emerging technologies are now available only is specific US markets.
What all of this adds up to is facts – facts you and your family can used to make decisions. You have taken the first step toward getting all you need to know. We urge you to contact the Down Syndrome Association of Minnesota, to join our community and to place your name and contact information in our databases so we can include you in our regular mailings and electronic briefs.
Most of all, however, we urge you to join us as a seeker of facts and push hard on all who might presume to provide facts to make sure they are complete and up to date.
For example, you may be subjected to quite steady pressure to terminate your pregnancy. That is your right, however, we urge you to go slow. Visit with other parents of kids with Down syndrome. Talk with professionals and give us a call.
To give you an idea where that could go, please know that each year the last Sunday of September is Step Up for Down Syndrome Walk Sunday. Sure, it’s a fund raiser and we taken in a bunch of cash. More important, however, it is a daylong celebration of the lives of our children and all they have accomplished. It is a day-long blowout that has now brought as many as 8,500 people out to have a ball.
Down Comforter Packet for Expectant Parents
One of the most important programs of the Down Syndrome Association’s Down Comforter program. We provide packets to hospitals, birth centers and clinics throughout the region. We also provide expectant parent packets to genetic counselors. If you have not gone to see a genetic counselor yet or you did not receive a Down Comforter Packet we have provided pdf files of the contents below.