Trisomy 18
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Description
Trisomy 18, or Edward’s syndrome, occurs when a human receives an extra copy of chromosome 18 at conception. Chromosomes are the genetic material that determines the growth and functions of human beings. Usually, humans have 2 copies of each chromosome. Humans with Trisomy 18 have 3 copies of chromosome 18. Trisomy 18 can cause slow development during pregnancy, heart and kidney defects, breathing and feeding problems, and hearing difficulties. Other characteristics of Trisomy 18 include intellectual disability, low birth weight, a small head, jaw, and mouth, and clenched fists with overlapping fingers. Trisomy 18 occurs in 1 in 3,000-7,000 live births and is not inherited in most cases.
Screening and Diagnosis
Trisomy 18 is diagnosed prenatally by amniocentesis or chorionic villus sampling (CVS). A positive prenatal biochemical screen (e.g., Quad test), ultrasound scan, or NIPT/NIPS screen indicates the chance of a possibly higher risk for this abnormality. NIPS screens for T18 carry a high false-positive rate (the result says there is a high risk, but there is no risk at all). Therefore, follow-up confirmatory diagnostic testing is recommended to confirm any positive T18 screening result to confirm the risk (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 Trisomy 18 diagnosis. These diagnostic tests pose a 1 in 500 risk of miscarriage.
Treatment/Prognosis
Trisomy 18 is a life-limiting condition that carries a significant risk of mortality and severe disability. About 10 percent of babies live through the first year of their life. The prognosis for children with Trisomy 18 depends on the associated medical conditions and may include cardiac and orthopedic surgery and feeding assistance to manage the baby’s symptoms to improve the quality and length of the baby’s life after birth. The literature reporting on families who pursue medical support for their infants who live beyond 3 months demonstrates that these children, while they may undergo more medical procedures than other children, are valued family members, that they are generally happy, and they have a positive impact on siblings. In addition, families who chose to continue the pregnancy with a child with Trisomy 18 report they would continue a future pregnancy with a child with Trisomy 18.
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.
Palliative care programs are available to support infants and their families for parents who may not be able to pursue medical interventions for their child with a life-limiting condition. They may ask their medical team for more information about perinatal palliative care programs that are available to them.
Below are additional support resources that may be helpful.
Sources:
Glossary of Types of Infant Loss - Google Docs
Trisomy 18 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program (nih.gov)
Trisomy 18 (cincinnatichildrens.org)
Edwards Syndrome (Trisomy 18): Genetic Condition, Symptoms & Outlook (clevelandclinic.org)
Trisomy 18 (Edwards Syndrome): Types & Diagnosis | SSM Health
Trisomy 18 (cincinnatichildrens.org)
Amniocentesis - Carrying To Term
Trisomy 18 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program (nih.gov)
Malloy C, Wubbenhorst MC, Lee TS. The perinatal revolution. Issues Law Med. 2019 Spring;34(1):15-41. PMID: 31179670.
Diagnosis-Specific Support
The purpose is to redefine Trisomy 18 by promoting advocacy, the sharing of medical data and educational resources. The emphasis is on 'Thriving Not Surviving' and 'What Happens Next?' They plan to provide support, education and resources regarding a wide variety of subjects that are important to our Trisomy 18 community.
Hope for Trisomy 13 and 18 is a nonprofit, tax-exempt 501(c)(3) created in honor and memory of all living and nonliving children with Trisomy 13 and 18 and Related Conditions. The organization is now doing business as simply HOPE FOR TRISOMY to better represent its broader scope. The Board of Directors is made up of families with living and nonliving children with these conditions.
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 are a volunteer, not-for-profit organization focusing on trisomy 13 and trisomy 18, (also known as Patau and Edwards syndromes respectively). Our mission is to offer trisomy 13 and trisomy 18 support groups, physicians and other professionals, accurate information and resources, and to be a mechanism for sharing between groups. The ITA website includes research publications about medical interventions and outcomes for children with trisomy 13 and 18. Some articles describe examples of surviving children who benefit from treatment and surgeries, and live a happy and valued life. Translations of books are available on the website.
Links to family web pages offering information & support to other families Living With Trisomy.
SOFT inspires hope and respects all on their Trisomy journey.
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 group is specifically designed for families with children affected by Mosaic Trisomy 13, 18, or any other number. Mosaic children tend to have a wider range of abilities, but unfortunately many parents are still told that their child is "incompatible with life". This group is for you to share achievements, ask questions, and most of all to meet other amazing families and children on this journey. To be considered for membership, you must answer the questions which will automatically be sent to you.
Trisomy 18 Foundation at http://www.trisomy18.org sponsors and moderates this Private Group to connect parents at any stage in their personal journey that began with a diagnosis of Trisomy 18 for a much-wanted child -- prenatal diagnosis or diagnosis after birth.
Reading:
On May 13, 2008, the Santorum family welcomed their seventh child into the world. Isabella Maria was born with a rare genetic condition called Trisomy 18, or Edward's Syndrome. Only 10 percent of children with Trisomy 18 are born alive, and 90 percent of those children do not make it to their first birthday. Faced with these bleak statistics, doctors told the family to prepare for Bella's death. Instead, they chose to celebrate her life. Over the next five miraculous years, the Santorum family adjusted to life with a special needs girl-and watched her transform the lives of everyone around her. In many days of sickness and joy, she became an inspiration to her community and, ultimately, to the nation. Bella's Gift details the peaks and valleys, the joys and sufferings, and the incredible value of life with a special needs child. In a world that often measures worth according to usefulness, Bella's story is a reminder that our real value lies in our capacity to love.
A family prepares for the arrival of a baby girl or boy who will be "different" because of his unique chromosomal diagnosis. While gently preparing themselves for the physical challenges that their baby may have, they also are reminded that no matter what happens, their baby is special and loved. This book not only ministers to children who may have a hard time understanding the facts about Trisomy 18, but also to their parents and loved ones who may be shocked and grieving following an unexpected diagnosis.