Medicines for Patau's syndrome

What it is

Patau's syndrome (trisomy 13) is a serious genetic condition caused by a baby having an extra copy of chromosome 13 (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 significant problems affecting many parts of the body. Like Edwards' syndrome, it usually happens by chance around conception rather than being inherited, and the chance increases with the mother’s age. Patau's syndrome affects development before birth, and babies with the condition often have serious physical problems and organ abnormalities — which can include heart problems, problems with the brain and nervous system, cleft lip and palate, effects on the eyes, extra fingers or toes, growth problems, and a range of other effects on the organs and body. It is a serious, life-limiting condition: sadly, many babies with the full form of Patau's 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 with milder or partial forms live longer, with varying needs and outlook. Because of the severity and the wide range of effects, care is highly individual and focuses on the baby’s comfort and needs and on supporting the family with compassion. Patau's syndrome is often detected during pregnancy — 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 Patau's syndrome is a serious genetic condition caused by an extra copy of chromosome 13, 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 Patau's syndrome focuses on the individual baby’s comfort and needs and on providing information, choices, and compassionate support for the family, coordinated by maternity, paediatric, and specialist teams; the condition is serious and often life-limiting, so care is deeply individual and sensitive. Patau's syndrome is often detected during pregnancy — antenatal screening may indicate a higher chance, and diagnosis is confirmed by further tests (such as a detailed scan and diagnostic genetic tests) — allowing 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, very severe form to rarer milder or partial forms), and outcomes vary, care is planned around the individual situation and the family’s wishes, and decisions during pregnancy and after birth are made together with the parents with sensitive support, and may involve difficult choices. For a baby born with Patau's syndrome, care focuses on the baby’s comfort and individual needs — which 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 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 Patau's 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 a profoundly difficult experience. The reassuring message, within the seriousness and sadness that Patau's 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.