Medicines for Edwards' syndrome

What it is

Edwards' syndrome (trisomy 18) is a serious genetic condition caused by a baby having an extra copy of chromosome 18 (three copies instead of the usual two) in the body’s cells. This extra genetic material severely affects the baby’s development, causing a wide range of problems affecting many parts of the body. It is usually not inherited, but happens by chance, most often as a random event around conception, and the chance increases with the mother’s age. Edwards' syndrome affects development before birth, and babies with the condition often have significant physical problems and organ abnormalities — which can include heart problems, difficulties with growth (often being small), problems with the shape of the head and features, difficulties with feeding and breathing, and a range of other effects on the organs and body. It is a serious condition, and sadly many babies with the full form of Edwards' syndrome do not survive pregnancy or are stillborn, and of those born alive, many do not survive beyond infancy, though a small number of children live longer, particularly those with milder or partial forms of the condition, and their needs and outlook vary. Because of the severity and the wide range of effects, care is highly individual and focuses on the baby’s needs and comfort and on supporting the family with compassion. Edwards' syndrome is often detected during pregnancy — for example through antenatal screening, and confirmed by further tests — which allows parents to receive information, support, and time to make decisions and prepare, with the support of their maternity and specialist teams. This is a profoundly difficult situation for families, who are supported sensitively throughout. The key messages are that Edwards' syndrome is a serious genetic condition caused by an extra copy of chromosome 18, that it severely affects development and many organs and is often life-limiting, and that care focuses on the baby and on compassionate support for the family.

How it is treated

The approach to Edwards' syndrome focuses on the individual baby’s needs and comfort, and on providing information, choices, and compassionate support for the family, with care coordinated by maternity, paediatric, and specialist teams; the condition is serious and often life-limiting, so care is deeply individual and sensitive. Edwards' syndrome is often detected during pregnancy — antenatal screening (such as combined screening) may indicate a higher chance, and diagnosis is confirmed by further tests (such as a detailed scan and diagnostic genetic tests) — which allows parents to receive clear, honest information about the condition and its likely course, support, and time to make decisions and prepare, with the support of their teams. Because the condition varies (from the full form, which is very severe, to rarer milder or partial forms), and because outcomes vary, care is planned around the individual situation and the family’s wishes. Decisions and care during pregnancy and after birth are made together with the parents, with sensitive support, and may involve difficult choices; whatever the situation, the family is supported with compassion and information. For a baby born with Edwards' syndrome, care focuses on the baby’s comfort and individual needs — this may include comfort and supportive care, feeding and breathing support, and treatment of specific problems where appropriate and in keeping with the baby’s best interests and the family’s wishes, with the balance of care guided by the severity and the individual situation; for babies with milder forms who live longer, ongoing individualised and multidisciplinary care supports their needs. Palliative and supportive care, focused on comfort and quality of life, is an important part of care given the seriousness of the condition. Throughout, compassionate support for the family — emotional, practical, and bereavement support where needed — is central, and specialist support and organisations that support families affected by Edwards' syndrome provide information and community. Genetic counselling is available to discuss the condition and any implications. The care team supports the family with honesty, compassion, time, and choices through what is a profoundly difficult experience. The reassuring message, within the seriousness and sadness that Edwards' syndrome often brings, is that care focuses on the individual baby’s comfort and needs and on compassionate, honest, and continuous support for the family — with information, choices, and support at every stage; so sensitive, individualised care and family support are central.