Understanding a Down Syndrome Diagnosis
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, bloodwork 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 non-invasive prenatal screen that measures cell free DNA is now commercially available. It is a blood test that can be performed as early as 10 weeks gestation and allows for quantifying the amount of placental DNA in maternal blood. The results are delivered as a 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 a expectant mother to have a child with Down syndrome. The actual chance for Down syndrome (PPV: Positive Predictive Value) is dependent on maternal age, timing during the pregnancy, family history and ultrasound findings. A negative or low risk result indiciates the pregnancy is unlikely to have Down syndrome. If expectant mothers wish to confirm these results, healthcare providers recommend that expectant mothers proceed with diagnostic testing such as chorionic villus sampling (CVS) or amniocentesis. As always, genetic counseling is recommended to discuss all screening and testing options.
- 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 MDSN 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.
(thanks to our friends at MDSC for the above information)
MDSN 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. MDSN’s 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 866-571-2223 or email email@example.com.
“Understanding a Down Syndrome Diagnosis”
This booklet presents information on available health and education services, common medical conditions for babies with Down syndrome, information about pregnancy options, and helpful resources about the condition. It was selected by the Joseph P.Kennedy Foundation as the gold standard for prenatal information about Down syndrome. It is the only prenatal resource to have been reviewed and endorsed by representatives of national medical organizations (ACOG, ACMG, NSGC) and national Down syndrome organizations (NDSS, NDSC). To request a copy of this booklet, call 866-571-2223 or email first firstname.lastname@example.org. You may also download a digital copy here.
Coping with Loss
This book offers support to families who have experienced a miscarriage or lost a baby or child with Down syndrome by covering topics like coping with grief; dealing with comments and the practicalities of loss; helping siblings cope; and finding resources. This book also features the stories and photos of families who have experienced loss and who provide their personal insight. Download a digital copy here.
- “A Promising Future Together” This guide, published by the National Down Syndrome Society is written specifically for new and expectant parents.
- Brighter Tomorrows provides families with balanced information about receiving a prenatal or postnatal diagnosis of Down syndrome.
- Diagnosis to Delivery: A Pregnant Mother’s Guide to Down Syndrome is one of many resources at downsyndromepregnancy.org for expectant parents who have made the decision to continue their pregnancy. It includes coping strategies, support resources and practical resources for the first year of your child’s life.
- Navigating a Prenatal Diagnosis of Down Syndrome – this video is part of the Allen C. Crocker Speaker Series, sponsored by the Down Syndrome Program at Children’s Hospital, Boston. Linda Zaccagnini, RN, MSN, NNP of the Advanced Fetal Care Center and Lori Dobson, MS, CGC of Brigham and Women’s Hospital present a thorough and informative talk on navigating a prenatal diagnosis of Down syndrome.
- Caring for Your Family – a resource developed by NDSS that offers tips and solutions to such questions as, “How will having a child with Down syndrome affect my family?”, “How will having a sibling with Down syndrome affect my other children?”, “What are some tips for taking care of my other children’s needs?”, and “How can I keep my relationship with my partner strong?”
- Creating and Evaluating Your Birth Plan – Provides templates for birth plans and doctor letters from expectant moms to their obstetricians about their concerns, expectations, and desires for their pregnancy when preparing for the birth of a baby with Down syndrome.
- 50 Things to Do Instead of Worry – A list of 50 things to do instead of worrying during a pregnancy where test results indicate the baby might have or definitely has Down syndrome. The list includes fun activities for any baby, like choosing possible name, and specific resources about life with Down syndrome.
- Diagnosis Day – This article talks about what parents would say to themselves if they traveled in the past to their diagnosis day — how life actually turned out and what fears were confirmed or resolved.
- Reclaiming Joy – This article talks about how parents reclaimed joy after learning about a prenatal diagnosis of Down syndrome.
- Waiting Game – This article describes the experiences of women who received blood tests or ultrasound findings indicating high chances for Down syndrome but declined an amnio or CVS to know with more certainty.
- Congratulations Project is an initiative in which members of the PALS family write letters to new members of the Down syndrome community. These letters are designed to inspire, encourage, welcome and, most importantly, congratulate new parents and siblings of a child with Down syndrome. At each PALS Program, participants are invited to write letters sharing about their lives. Counselors and siblings are also invited to share their perspective, and letters are paired and dispersed as packages.
- Gifts: Mothers Reflect on How Children with Down Syndrome Enrich Their Lives, edited by Kathryn Lynard Soper.
- Woodbine House Publishers specialize in books on a variety of developmental disabilities, including Down syndrome.
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.