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Having a Child with Edwards' Syndrome (Trisomy 18) | NHS
Understanding Edwards' Syndrome
Edwards' syndrome, also known as trisomy 18, is a serious genetic condition caused by an extra copy of chromosome 18. This additional genetic material disrupts normal development, leading to a range of severe medical and developmental issues. It is considered a rare condition, occurring in around one in every 5,000 live births in the UK.
Diagnosis and Prenatal Screening
Expectant parents may be offered screening for Edwards' syndrome as part of routine antenatal care. Tests can identify the likelihood of a baby having Edwards' syndrome and are typically conducted during the first trimester. A definitive diagnosis can be confirmed through more detailed diagnostic tests like chorionic villus sampling (CVS) or amniocentesis, which analyse fetal cells for chromosomal abnormalities.
Symptoms and Life Expectancy
Babies born with Edwards' syndrome often have a low birth weight and various physical abnormalities, such as heart defects, kidney problems, and abnormalities of the digestive tract. Intellectual disabilities and developmental delays are also common. Unfortunately, the condition is life-threatening; many infants do not survive beyond the first few weeks or months of life, with only a small number reaching their first birthday.
Medical Care and Support
The NHS provides comprehensive care and support for families affected by Edwards' syndrome. Care can include surgical interventions for heart and gastrointestinal defects, specialised feeding support, and physiotherapy to manage other symptoms. Palliative care teams are also available to ensure the child's quality of life is managed compassionately and effectively.
Emotional and Practical Support
Having a child diagnosed with Edwards' syndrome can be emotionally challenging. Support groups and counseling services are essential resources that can provide parents with emotional support and practical advice. Charitable organizations in the UK, such as SOFT UK, offer valuable information and connect families experiencing similar situations.
Planning for the Future
While Edwards' syndrome presents significant challenges, knowing what to expect and planning accordingly can help families navigate this journey. This includes regular medical appointments, early intervention programs, and seeking support networks. Discussing long-term care plans with healthcare providers and support services can ensure that the child's needs are met as they grow.
For more detailed information and resources, visit the NHS website or contact local healthcare providers and support organisations specializing in genetic conditions.
Frequently Asked Questions
What is Edwards' syndrome (trisomy 18)?
Edwards' syndrome, also known as trisomy 18, is a rare but serious genetic condition caused by an extra copy of chromosome 18 in some or all of the body's cells. This extra genetic material disrupts normal development.
How is Edwards' syndrome diagnosed?
Edwards' syndrome can be diagnosed during pregnancy through screening tests such as a combined test at 11 to 14 weeks, a quadruple test at 15 to 20 weeks, or a non-invasive prenatal test (NIPT). Confirmation can be done through diagnostic tests like amniocentesis or chorionic villus sampling (CVS).
What are the symptoms of Edwards' syndrome?
Symptoms of Edwards' syndrome can include severe developmental delays, congenital heart defects, gastrointestinal abnormalities, and distinctive facial features. Babies may have low birth weight and grow more slowly.
What is the life expectancy for a child with Edwards' syndrome?
The life expectancy for children with Edwards' syndrome is significantly shortened. Many babies with the condition die before or shortly after birth. Those who survive beyond infancy often have severe medical and developmental issues.
Can Edwards' syndrome be treated?
There is no cure for Edwards' syndrome. Treatment typically focuses on managing symptoms and providing supportive care, which may include medical interventions, physical therapy, and support for families.
Is Edwards' syndrome inherited?
Edwards' syndrome is usually not inherited. It is typically caused by a random error in cell division that results in an extra chromosome 18.
What support is available for families with a child diagnosed with Edwards' syndrome?
Support for families may include medical care teams, genetic counseling, palliative care services, support groups, and organisations like SOFT UK that provide resources and support for those affected by trisomy conditions.
How common is Edwards' syndrome?
Edwards' syndrome occurs in about 1 in 5,000 live births. It is more common in pregnancies that do not come to term.
Can Edwards' syndrome be detected before birth?
Yes, Edwards' syndrome can often be detected before birth through screening tests and confirmed through diagnostic tests.
What are the risk factors for Edwards' syndrome?
The most significant risk factor for Edwards' syndrome is advanced maternal age. The likelihood of having a baby with this condition increases as a woman gets older.
What is the difference between screening and diagnostic tests for Edwards' syndrome?
Screening tests estimate the likelihood of the fetus having Edwards' syndrome, while diagnostic tests provide a definitive diagnosis by examining the baby's chromosomes.
What is the impact of Edwards' syndrome on a family?
Edwards' syndrome can have a profound emotional, physical, and financial impact on families. Support from healthcare professionals, family members, and support organisations can be crucial.
Are there any prenatal treatments available for Edwards' syndrome?
There are no prenatal treatments that can correct the genetic abnormalities of Edwards' syndrome. Care focuses on monitoring the pregnancy and planning for delivery and postnatal care.
What are the long-term prospects for children with Edwards' syndrome?
Most children with Edwards' syndrome have severe developmental delays and physical disabilities. Those who survive the first year may have complex healthcare needs and require ongoing medical support.
How can I connect with other families affected by Edwards' syndrome?
You can connect with other families through support groups, online forums, and charities like SOFT UK, which provide information, support, and community connections for families affected by trisomy conditions.
Useful Links
Useful links from: What it's like to have a baby with Edwards' syndrome - My Story - Chloe and Penelope | NHS
- NHS - What it's like to have a baby with Edwards' syndrome - Chloe and Penelope Personal account of Chloe and Penelope's experience with Edwards' syndrome, also known as trisomy 18, provided by the NHS.
- SOFT UK (Support Organization for Trisomy 13/18 and Related Disorders) UK-based charity offering information and support to families affected by trisomy 13 (Patau's syndrome), trisomy 18 (Edwards' syndrome), and related conditions.
- NHS - Edwards' syndrome overview Information on Edwards' syndrome, including causes, symptoms, and treatments, as provided by the NHS.
- ARC (Antenatal Results and Choices) UK charity providing non-directive information and support to parents making decisions around antenatal screening and diagnosis, including conditions like Edwards' syndrome.
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