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Abstract
Aims Patients with Trisomy 18 have a poor prognosis – only 5%–10% of children survive beyond the first year; however various clinical features of Trisomy 18 such as gastrointestinal, cardiac and central nervous system anomalies may benefit from surgery. Providing intensive care including surgery must be carefully considered. We aimed to review surgical intervention in babies with Trisomy 18 and its outcome.
Methods A retrospective case note review was undertaken of babies with a confirmed diagnosis of Trisomy 18 admitted to NICU over a 5 year period (01/09/2011 to 31/08/2016).
Results 15 babies with Trisomy 18 were identified, 12 male and 3 female. Mean birth weight was 1.91 kg. Babies were born at a mean gestation of 39 weeks (range 31–41 weeks) (Tables 1, 2 and 3).
Out of the 8 babies who had surgical pathology, 6 were stable enough to receive surgical intervention. 1 infant with a TOF/OA and 1 with complex cardiac problems were too unstable for surgery and died in hospital. Of the patients operated on, 1 baby died in theatre but the remainder were discharged home.
Gastrointestinal problems were the main indications for surgery. 3 operations were undertaken for tracheo-oesophageal fistula, 2 for intestinal obstruction and 1 myelomeningocoele repair. Three of the 6 operations took place before a diagnosis of Trisomy 18 was confirmed.
Conclusion Patients with Trisomy 18 who had surgical lesions that were amenable to intervention received surgery and had good short term outcomes with the majority of these patients discharged home. Surgery was performed both before and after the diagnosis of Trisomy 18 was confirmed, although it was suspected in all but one case. We therefore consider that a diagnosis of Trisomy 18 should not be a contraindication to surgical intervention. Our data shows that despite the poor long term prognosis of Trisomy 18, surgery should be considered to enable good quality palliative care, enable discharge home and improve the quality of a short life.
References
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