753 Guideline for the care and management of children with Trisomy 18. (17th August 2022)

• Record Type: Journal Article
• Authors: Nye, Abigail; Finlay, Fiona
• Is Part Of: Archives of disease in childhood. Volume 107(2022)Supplement 2
• Page Start: A163
• Page End: A164
• Publication Date: 2022-08-17
• Subjects: Children -- Diseases -- Periodicals; Infants -- Diseases -- Periodicals; 618.920005
• DOI: 10.1136/archdischild-2022-rcpch.264
• Languages: English
• ISSNs: 0003-9888

Abstract

Abstract : Aims: Trisomy 18 results in a range of congenital abnormalities. Although the majority of affected children will die before birth or in the first year of life, the term 'universally lethal' is misleading and out-dated: recent studies have shown that 5-8% of live-born children live to their 1 st birthday without special care, and that a child who lives to 1 year has a 60% chance of reaching 5 years (Barnes and Carey, 2018). Furthermore, both 1 year and 5 year survival increases with intensive medical intervention (Kosho and Carey, 2016). A published survey of parents in an online support group revealed that parents cope well, value the lives of their children, and appreciate a quality of life for their children. 97% of parents describe their child as happy, and say that they enrich the family (Janvier et al, 2012). Given that the effects of Trisomy 18 are diverse, and its prognosis very variable, any guideline must not be overly prescriptive. Rather there should be co-operative doctor and parent evaluation of the benefits and challenges of any intervention for an individual child. With this in mind a guideline has been developed, in consultation with parents and colleagues working in general and community paediatrics, palliative care, neonatology and foetal medicine, with the aim of providing a framework of possible interventions to consider following diagnosis. Methods: A literature review was undertaken and clinicians and parents consulted to establish best practice. Results: An' Initial Diagnosis Checklist' was drawn up, along with a consultation 'Review Proforma' and a 'Summary Sheet' documenting professionals involved. Supporting information was developed for professionals detailing diagnostic testing, including fetal anomaly scanning, amniocentesis, chorionic villus sampling, the Combined test and free-cell DNA test. Guidelines for discussion of options following antenatal diagnosis are suggested, with an emphasis on ensuring that the parents feel empowered during these conversations, and that parents and professionals build trust and maintain a close and honest dialogue throughout. Common structural abnormalities, care at birth, confirmation of genetic diagnosis, parental and family support and comfort care are also discussed. Information is provided on feeding, hearing screening, growth, cardiac defects, respiratory symptoms and support, seizures, neoplasias, orthopaedic conditions and general development, with discussion of management options. Conclusion: It is important to remember that every child with Trisomy 18 is unique. Information has been developed for professionals emphasising that all decisions should be made in the best interests of the baby, taking all available information into account, and making decisions in conjunction with the parents. Paperwork has been developed to aid documentation and emphasising that every baby and family must be provided with love, dignity, respect and comfort. 'Our daughter Neriah has given us the best years of our lives, Trisomy 18 shone the light of what is most important in life - that being love.' Emma and Dwayne