Trisomy 21 (Down Syndrome)
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Description
Trisomy 21 (T21), or Down syndrome, is one of the most common genetic disorders caused by an extra copy of chromosome 21. Chromosomes are the genetic material that determine the growth and functions of human beings. Usually, humans have 2 copies of each chromosome. Humans with Trisomy 21 have 3 copies of chromosome 21. T21 causes certain physical characteristics, developmental delays, and learning disabilities. T21 can cause heart, vision, and hearing problems. T21 occurs in 1 in 700 live births and is not an inherited disorder in most cases.
Screening and Diagnosis
Down syndrome can be diagnosed before or after birth. If testing before birth, amniocentesis or chorionic villus sampling (CVS) testing can diagnose Down syndrome. A positive prenatal biochemical screen (e.g., Quad test) or NIPT/NIPS screen indicates the chance of a higher risk for this abnormality. NIPS screens for T21 are more accurate among women at high risk (e.g,, over the age of 35), but when women at low-risk (less than 35 years of age) are screened, NIPT/NIPS can be wrong 50% of the time or more. Therefore, follow-up confirmatory diagnostic testing is recommended to confirm any positive T21 screening result (a diagnostic test such as amniocentesis, CVS, or newborn screening). Amniocentesis tests the amniotic fluid during the second or third trimester of pregnancy and CVS tests the placenta to confirm a T21 diagnosis. These diagnostic tests pose a 1 in 500 risk of miscarriage.
Treatment/Prognosis
Treatments for Trisomy 21, or Down Syndrome (DS), address secondary conditions a child may experience such as congenital heart defects, physical anomalies, seizures, and hypothyroidism. Treatment can include surgery, physical therapy, speech therapy, and behavioral therapy. T21 is usually not fatal and, with appropriate medical care, people with Down syndrome can live happy lives with an average life expectancy of 60 years. A study reporting on families of children with T21 has found that “an overwhelming majority of parents love their son or daughter with DS and are proud of them” and “felt their outlook on life was more positive because of them” (See Skotko et al, 2011 below).
Medical advances are continually improving treatment options and outcomes so consulting with specialists and major children’s hospitals may be beneficial to find the best possible care.
Below are additional support resources that may be helpful.
Sources:
https://www.massgeneral.org/children/down-syndrome/trisomy-21-down-syndrome
https://www.mayoclinic.org/diseases-conditions/down-syndrome/symptoms-causes/syc-20355977
https://www.stanfordchildrens.org/en/topic/default?id=down-syndrome-trisomy-21-90-P02356
Down Syndrome | Diagnosis & Treatments | Boston Children's Hospital (childrenshospital.org)
Trisomy 21 (Down Syndrome) | Children's Hospital of Philadelphia (chop.edu)
Down Syndrome - Dive Deeper - Voyage of Life
Facts about Down Syndrome - National Association for Down Syndrome
Skotko, B. G., Levine, S. P., Macklin, E. A., & Goldstein, R. D. (2016). Family perspectives about Down syndrome. American journal of medical genetics. Part A, 170A(4), 930–941. https://doi.org/10.1002/ajmg.a.37520
Skotko, B. G., Levine, S. P., & Goldstein, R. (2011). Having a son or daughter with Down syndrome: perspectives from mothers and fathers. American journal of medical genetics. Part A, 155A(10), 2335–2347. https://doi.org/10.1002/ajmg.a.34293
Diagnosis-Specific Support
Featured Support Organizations
Hope Story is a team of medical professionals and storytellers. We believe that stories have the ability to provide hope to others and change the world. At our core, we exist to help people learn to tell their stories and help them find opportunities to share them with people that need to hear them the most.
We help medical professionals deliver hopeful stories to their patients. We help parents raising children with Down syndrome leverage their unique story to bring hope to parents whose child has received a Down syndrome diagnosis. We connect parents whose child has received a new Down syndrome diagnosis to parents who have a child with Down syndrome so that they can receive encouragement, support, and hope. We believe a little bit of hope can go a long way.
We celebrate babies with Down syndrome. We equip medical providers to communicate Down syndrome accurately. We connect parents raising a baby with Down syndrome through basket delivery. We share powerful stories to change Down syndrome narrative. Watch the Jack’s Basket Prenatal Consult Film here.
While the Jerome Lejeune Foundation in France focuses on Research, Care, and Advocacy, the Jerome Lejeune Foundation USA centers its activities on Care and Advocacy. In March 2021, we launched a medical center pilot program in Denver, Colorado. This first “Pilot” phase is now completed and we have entered the “Assessment” phase of the pilot to determine if and where we should open a permanent medical center in the United States.
Additional Support Organizations
Down Syndrome Affiliates in Action is a membership association whose members are local, state, and regional Down syndrome associations. Long before there was DSAIA, staff and volunteers recognized how important it was to share experiences, exchange program materials, and find ways to learn from each other. We knew how valuable it was to be with other leaders who understand the unique aspects of the Down syndrome community. In 2007, leaders from around the country gathered for the first conference and a few years later, we became Down Syndrome Affiliates in Action. Today, our members play a vital role in ensuring that individuals with Down syndrome and their families have access to the resources they need. We help our members develop their organizational capacity and we provide connections, resources, support, and training. DSAIA represents more than 2,000 leaders in the Down syndrome community. Our members range from brand new start-ups to larger, well-established organizations in the United States and around the world.
DSDN is the largest national organization supporting new and expectant parents with a Down syndrome diagnosis. The mission of the Down Syndrome Diagnosis Network is to connect, support, and provide accurate information to parents - and the medical professionals who serve them - from the time of diagnosis through age 3 while fostering the opportunity for lifelong connections. Our vision is that every Down syndrome diagnosis will be delivered in an unbiased, factual, and supportive way every time and that families can quickly find meaningful connections.
We work to improve early intervention and education for children with Down syndrome around the world.
Down Syndrome Pregnancy is a program administered by the National Center for Prenatal and Postnatal Resources at the University of Kentucky's Human Development Institute. We provide honest, compassionate, medically-reviewed, and informative support for those preparing for the birth of a baby with Down syndrome. The National Center also administers Brighter Tomorrows, an online resource for new and expectant parents, and Lettercase, a program for expectant parents first learning about prenatal screening/testing and a Down syndrome/Trisomy 21 diagnosis.
Down Syndrome World provides easy-to-read, entertaining, and informative stories on Down syndrome research and medical care and the incredible work of our self-advocates.
The Global Down Syndrome Foundation is a public non-profit 501(c)(3) dedicated to significantly improving the lives of people with Down syndrome through Research, Medical care, Education and Advocacy. Formally established in 2009, the Foundation’s primary focus is to support the Linda Crnic Institute for Down Syndrome, the first academic home in the United States committed solely to research and medical care for people with Down syndrome. Since Down syndrome is the least-funded genetic condition in the United States, fundraising and government advocacy to correct the alarming disparity of national funding for people with Down syndrome is a major goal.
Julia's Way is a 501c3 non-profit organization dedicated to inspiring parents, medical professionals, and the general public to reimagine what's possible for those living with Down syndrome through education, advocacy, and awareness.
The mission of the National Down Syndrome Adoption Network is to ensure that every child born with Down syndrome has the opportunity to grow up in a loving family.
The National Down Syndrome Congress (NDSC) is a not-for-profit organization dedicated to an improved world for individuals with Down syndrome. Founded in 1973, we are the leading national resource of support and information about Down syndrome, from the moment of diagnosis, whether prenatal or at birth, through adulthood. The purpose of the NDSC is to promote the interests of people with Down syndrome and their families through advocacy, public awareness, and information. When we empower individuals and families from all demographic backgrounds, we reshape the way people understand and experience Down syndrome.
The National Down Syndrome Society (NDSS) is the leading human rights organization for all individuals with Down syndrome.The National Down Syndrome Society (NDSS) envisions a world in which all people with Down syndrome have the opportunity to enhance their quality of life, realize their life aspiration
The National Parents First Call Center is a first-of-its-kind, comprehensive full-service professional center that serves expectant parents and medical providers as well as Down syndrome organization leaders and parent volunteers. The center includes two branches — the National Prenatal First Call Center and the First Call National Training Center. The first branch, the National Prenatal First Call Center, caters to the “First Call” needs of expectant parents and medical professionals when they first learn of a suspected or confirmed Down syndrome diagnosis. The second, the First Call National Training Center, offers a replication model, providing our own expertise to help train other Down syndrome organizations interested in launching or enhancing a Parents First Call program in their local community.s, and become valued members of welcoming communities
Facebook Groups:
PrenatalDiagnosis.org wants to provide you with a wide range of support including links to helpful Facebook groups. However, we cannot verify the exact content that you will find on Facebook pages and groups, which vary widely by moderator, participants, and topics.
This is a support group for families with loved ones with Down Syndrome.
The focus of this group is parents of children with Down syndrome. It is a safe place to discuss most anything DS related - WITHOUT FEAR OF JUDGEMENT - just support! We are known for being one of the largest but most secure support groups for caregivers of someone special with DS. Most members are parents of a child with Down syndrome, however, there are members who do not have a Down syndrome child, but are still involved in supporting our community. The name was picked to make it easy for parents to find support, but is not meant to insinuate any sort of exclusivity. We are inclusive, and invite all who are a part of someone's 21 chromosome life to celebrate their triumphs with us. This is also a great place for medical professionals to learn that newborns with Down syndrome are to be celebrated just like any other newborn.
Reading:
Dr. Marie Hilliard (Director of Bioethics and Public Policy at the National Catholic Bioethics Center) interviews Dr. John Bruchalski, an OBGYN and founder of the pro-life Tepeyac Family Care Center.