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Caring for a Child

When caring for a baby or child affected by Trisomy 13 or 18, you may find information on these pages and our booklets Your Unborn Baby and Your Baby, helpful.


Over 90% of babies with Trisomy 18 and approximately 80% of babies with Trisomy 13 will have a full trisomy (affecting all cells) while the remainder will have a trisomy due to a rearrangement of cells called a translocation (an attachment of all or part of one chromosome to another chromosome) or have mosaicism (only some cells affected). Babies with mosaic Trisomy 13 or 18 may have many of the features of full Trisomy, or can be minimally affected depending on the number and distribution of cells involved.

The major impact of Trisomy 13 and Trisomy 18 is congenital malformations (birth defects), a high incidence of miscarriage and infant mortality, and developmental and motor disability in older babies and children.


Heart Defects


About 80% of children with Trisomy 13 and over 90% of children with Trisomy 18 will have a congenital heart defect. This can include: ventricular septal defect (VSD), (a heart murmur is generally heard from this finding); atrial septal defect (ASD), (a heart murmur is often heard); patent ductus arteriosis (PDA); and dextrocardia.


Medical Problems


Older babies can have difficulties with breathing due to apnoea or problems of lung development. Some children have swallowing difficulties and gastroesophageal reflux. Feeding problems can occur and result in aspiration, which can precipitate aspirational pneumonia. Constipation and urinary tract infections are also possible problems. For babies with Trisomy 13, other findings of significance include small eyes (microphthalmia) or sometimes an absent eye or faulty development of the retina; and failure of the forebrain to divide properly (holoprosencephaly). Cleft lip or cleft palate or both occur in about 60% of children with Trisomy 13 and 10% of children with Trisomy 18.
(Ref: Carey JC, Kosho T. Perspectives on the care and advances in the management of children with Trisomy 13 and 18. (2016, Sept) AM J Med Genet.)

Growth


Babies with Trisomy 13 and Trisomy 18 are generally smaller and have a lower weight at birth. A baby with Trisomy 13 or Trisomy 18 is not expected to gain weight and height as quickly as a healthy child. Growth charts developed in collaboration with SOFT USA are designed specifically for children affected by Trisomy 13 and Trisomy 18.


Palliative Care

 
Sadly, early mortality rates are high for babies affected by Trisomy 13 and 18. Families should be informed about what palliative care is available to them and supported to make choices about what they want to access and when. The resource from Together for short lives: Childrens Hospice Charities, Perinatal pathway for babies with palliative care needs (2017) is helpful for all organisations. It encourages professionals to work together across multidisciplinary teams and local services to provide the best response to families.


Survival rates


Whilst rates of stillbirth in Trisomy 13 and 18 pregnancies are high, of those babies born alive around 11.5% of babies with Trisomy 13 and 13.4% of babies with Trisomy 18 live past their first birthday, according to a large population based study undertaken by Robert Meyers in the US. . Interestingly the data also indicates that the five year survival data is very little different to the one year data: 9.7% of T13 children and 12.3% of T18 children reached the their fifth birthday. If a baby reached their first birthday their chances of living to at least 5 years of age were over 80%. These findings support the emerging view that, despite their severity and high mortality rates Trisomy 13 and 18 should no longer be regarded as incompatible with life.
(Ref: Myers RE, et al. Survival of children with Trisomy 13 and Trisomy 18: A multi-state population based study. 2015)
 
SOFT UK is increasingly in contact with older children and adults.  We can provide parents with information and support at all stages of their Trisomy journey, and link them to other families who have similar experiences. We hold regular Family Events, when families can meet together, gain information from our professional advisors and develop their own support network. Please contact us on enquiries@soft.org.uk if we can be of any support or if you are interested in attending any of our events.
 

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