Welcome. You are not alone. We are here for you.
We understand how difficult it can be to hear this unexpected news. We are a safe place for you to turn to with your questions. We invite you to connect with our trained parent mentors to share your feelings with people who have been in your shoes. We care and we will not judge your thoughts and feelings.
There is no right or wrong way to react to a prenatal diagnosis. We all have unique life situations and come from different backgrounds. You may have a range of emotions. You may feel confused, sad, or overwhelmed. Please know that these emotions are perfectly normal. We offer you the opportunity to speak with experienced parents who can answer your questions and provide a realistic picture of raising a child with Down syndrome. We will answer your questions honestly and do our best to describe the joys and challenges we have experienced in our own personal journeys.
There are a variety of prenatal tests that are used to screen a pregnancy for Down syndrome. 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.
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.
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.
Down Syndrome Diagnosis Network – Offers a vast on-line support platform through Facebook for new and expectant parents and provides accurate information to parents and medical professionals; if you are continuing your pregnancy to parent your child you may request to join the group.
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. Available in English and Spanish
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.