Expectant Parent

Uncertain times

We know that you are having so many emotions if you have just received a confirmed or suspected diagnosis that your baby will have Down syndrome. We can provide you with information and support so you'll be ready to celebrate the birthday of your baby.

There are many different types of prenatal tests for Down syndrome. In order to best understand what the results mean for you and your pregnancy, it is important to understand which type of test that you received :

  • The “triple screen,” “quadruple screen,” “first trimester combined screen,” “integrated screen,” and “contingency screen” are all different types of prenatal screening tests that involve, to varying degrees, blood work and ultrasound findings. These screening tests provide you a risk assessment, not a diagnosis, and the results should be communicated as such. In other words, you should not be told that your child is “positive” or “negative” for Down syndrome. Instead, the results indicate the probability (or degree of chance) that your child will have Down syndrome. For example, you might be told that your child has a 1 in 300 chance of having Down syndrome. It is important to realize that different people can interpret probabilities in very different ways.
  • Current Down syndrome prenatal screening results are anywhere from 65 to 95 percent accurate depending on the exact test.
  • A new noninvasive prenatal test involving cell-free DNA is now commercially available. This also is a blood test that can be performed as early as 10 weeks gestation. These results are delivered as a “positive” or “negative,” although it is important to understand that these tests are 99% accurate. This means that expectant mothers who receive a “positive” result, have about a 1% chance of not having a child with Down syndrome; expectant mothers who receive a “negative” result, have about a 1% chance of actually having a child with Down syndrome. If expectant mothers with to confirm these results, physicians recommend that expectant mothers proceed with a CVS or amniocentesis.
  • Determining with virtual certainty that your child has Down syndrome requires an invasive test, where a needle is inserted into the pregnant abdomen. Usually administered after the 15th week of pregnancy, an “amniocentesis” analyzes a uterine fluid sample, which contains fetal cells. The chromosomes of these cells can be tested to determine whether Down syndrome is present. Administered usually 10 to 14 weeks into the pregnancy, “chorionic villus sampling” or “CVS” analyzes fetal cells like in an amniocentesis, but using placental not uterine fluid. Both these tests carry a small risk of miscarriage.

If you have received prenatal tests that suggest or confirm Down syndrome, remember that the DSAGC is here for you – with accurate, up-to-date information and the opportunity to speak with a parent mentor through our Parents’ First Call Program. See below for details.

Parent's First Call Program
For expectant parents of children with Down syndrome, any opportunity to speak with other parents who have experienced what you are experiencing can be invaluable. The DSAGC's Parent First Call program is a volunteer group of trained parent mentors available 24/7 to listen, share, answer questions, and provide valuable information.  If you would like to speak with a First Call parent who also received a prenatal diagnosis, please call 704-916-9871 or e-mail tleyton@dsa-gc.org

National booklet “Understanding a Down Syndrome Diagnosis”
The 2011 edition of “Understanding a Down Syndrome Diagnosis” contains the latest medical and developmental information about people with Down syndrome as well as local and national resources, pregnancy options and helpful visuals and graphics. This booklet has been reviewed by all the major medical organizations involved in expectant mothers’ health. To request a copy of this booklet, call 704-916-9871 or e-mail tleyton@dsa-gc.org. You may also download a digital copy here. 

Understanding Cover

Online Resources

A free, downloadable book for expectant parents who have made the decision to continue their pregnancy, Diagnosis to Delivery: A Pregnant Mother’s Guide to Down Syndrome, is available at www.downsyndromepregnancy.org. Includes strategies for coping with a Down syndrome diagnosis, medical guidelines for the first year, and support resources. 

 Recommended Books

  • Gifts: Mothers Reflect on How Children with Down Syndrome Enrich Their Lives, edited by Kathryn Lynard Soper. The MDSC has donated copies of Gifts to each public library in Masssachusetts for easy access by expectant and new families. The NDSC has a recommended reading list as well.
  • Woodbine House Publishers specialize in books on a variety of developmental disabilities, including Down syndrome.

Adoption
We understand that not all birth families feel they are able to meet the needs of children with Down syndrome. The National Down Syndrome Adoption Network provides information to birth families who may be seeking alternatives to parenting as they prepare for the arrival of their child. The network currently has over 200 registered families, each waiting to adopt a baby with Down syndrome.


(Thank you to the Massachusetts Down Syndrome Congress for supporting the DSAGC's Parent First Call Program.)

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