Welcome. You are not alone. We are here for you.
You may have just received a diagnosis and we understand how difficult it can be to hear this unexpected news. We would like to invite you to connect with one of our trained parent mentors where you can share your feelings with someone who has been in your shoes. We are here for you and want to encourage you to process your thoughts and feelings. We all come from different backgrounds and unique life situations. There is no right or wrong way to react to a prenatal diagnosis. We welcome you to connect with experienced parents who can listen, answer your questions in a safe place, and provide a realistic picture of raising a child with Down syndrome.
If you are a parent who has received a suspected or confirmed prenatal diagnosis and would like to connect with a First Call parent mentor, you may email firstcall@dsapgh.org or call/text (412) 552-4972.
Screening/Testing
There are a variety of prenatal tests that are used to screen a pregnancy for Down syndrome. Prenatal screens estimate the chance of the fetus having Down syndrome. These tests do not tell you for sure whether your fetus has Down syndrome; they only provide a probability. In order to best understand what your results mean for you and your pregnancy, it is important to understand which type of screening or diagnostic testing was performed.
- The “triple screen,” “quadruple screen,” “first trimester combined screen,” or “integrated screen,” are all different types of prenatal screening tests that involve, in varying degrees, bloodwork and ultrasound. These screening tests provide you with a risk assessment, not a diagnosis, and the results should be communicated as such. The results should indicate the probability (or degree of chance) that your child will have Down syndrome. For example, you might be told that there is a 1 in 300 chance that your baby has 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 screening test performed.
- Non-invasive prenatal screening (NIPS) which measures cell-free DNA in maternal blood is another type of blood test that can be performed as early as 10 weeks gestation. This allows for quantifying the amount of placental DNA in maternal blood. The results are delivered as: positive/high risk or negative/low risk, but confirmation requires further testing in the form of CVS or amniocentesis. It is important to understand that while these tests are reported to detect >99% of cases of Down syndrome, they are NOT 99% accurate. A positive or high-risk result indicates an increased chance for an expectant mother to have a child with Down syndrome. A negative or low-risk result indicates that the baby is much less likely to have Down syndrome. If expectant mothers wish to confirm these results or better understand these results, health care providers recommend that consultation with a genetic counselor take place to discuss the options of diagnostic testing such as chorionic villus sampling (CVS) or amniocentesis.
Diagnostic Tests
In order to determine if your child will have Down syndrome with the highest degree of accuracy, a diagnostic test is required. Usually administered after the 15th week of pregnancy, an “amniocentesis” analyzes an amniotic fluid sample, which contains fetal cells. The amniotic fluid sample is obtained by inserting a needle into the abdomen and into the uterus to obtain the sample. The chromosomes of the fetal cells can be tested to determine whether Down syndrome is present. Early in pregnancy, usually between 11 to 14 weeks, “chorionic villus sampling” or “CVS” can be performed to analyze fetal cells like in an amniocentesis, but by using a biopsy of the placenta. Both these tests carry a very small risk of miscarriage.
As always, genetic counseling is recommended to discuss all screening and testing options, to help you understand results, and to support you along your journey.
Here is a link to a recent podcast with guest, Stephanie Meredith, Author and Director of the National Center for Prenatal and Postnatal Resources at the University of Kentucky's Human Development Institute, where she discusses the landscape of prenatal testing and more.
*Screening and testing information was provided from our friends at the Massachusetts Down Syndrome Congress.
Support
If you are a parent who has received a suspected or confirmed prenatal diagnosis, we are here for you. To connect with a First Call parent mentor, please email firstcall@dsapgh.org or call/text (412) 552-4972.
Family Connection Groups
There are several Family Connection groups to get involved with and these are allow you to connect by children's ages and specialty groups. DSAP also hosts Facebook groups that coincide with the Family Connection groups to continue to connect and support each other.
Helpful Resources for Expectant Parents
Understanding a Down syndrome Diagnosis – For patients first learning about a prenatal screening/testing and a suspected diagnosis of Down syndrome. The booklet shares information in both English and Spanish.
Diagnosis to Delivery: A Pregnant Mother’s Guide to Down Syndrome – Offers resources about Down syndrome for expectant parents preparing for the birth of a baby with Down syndrome. The booklets are available in both English and Spanish.
A Promising Future Together: A Guide for New and Expectant Parents – Provides a comprehensive overview of Down syndrome including sections on healthy starts, early intervention therapies, how to find support and care for your family and what the future holds for your child. Additionally available in Spanish, Russian, Chinese, and Vietnamese.
The National Down Syndrome Adoption Network – We understand that not all expectant families feel they are able to meet the needs of children with Down syndrome. The National Down Syndrome Adoption Network provides information to families who may be seeking alternatives to parenting. The network currently has 50 families on the NDSAN Registry who are approved and ready to adopt a child with Down syndrome.
Down Syndrome Medical Care
Here is Western PA, we have specialized medical care at the Down Syndrome Center of Western PA and they see individuals with Down syndrome across the lifespan. To reach out to the center directly, email DownSyndromeCenter@chp.edu or call (412) 692-7963.
What is Down Syndrome?
Visit our What is Down Syndrome page to learn more.
