Abstract

Trisomy18 (Edwards's syndrome) is the second commonest trisomy. While most affected foetuses either die in-utero or terminated following antenatal diagnosis, postnatally diagnosed cases create a major ethical dilemma. We reviewed five postnatally diagnosed Trisomy 18 cases over last 4 years. Two were antenatally suspected to have dysmorphic features but parents declined diagnostic testing. All were born by emergency section for foetal distress needing resuscitation (3 at 33–36 weeks & 1 term). Echocardiogram confirmed heart defects in all (three Ventricular Septal Defects (VSD) and one Hypoplastic left heart syndrome (HLHS)). Although senior doctors counselled parents about this possibility with clinical suspicion, it was difficult to come to agreement until chromosomal confirmation. In two babies needing ventilation, intensive care was subsequently withdrawn after parents agreement, Baby1 (Large VSD) died in hospital and Baby2 (HLHS in whom prostaglandin stopped) died after going home. It was difficult to decide whether to stop oxygen/CPAP or to consider diuretics for Baby3 (Large VSD). Baby4 who underwent repair of oesophageal atresia after parents wanted full treatment is still alive aged 2 years (small VSD closed spontaneously).

Palliative care after confirmation of Trisomy18 is not straightforward. This depends primarily on parental views. Severity of cardiac defects and ventilatory dependency at confirmation also play crucial roles. More severe cardiac defects are easier to counsel as we believe that invasive cardiac surgery is totally unethical. Court is also likely to support this even if it is against parents' wishes. While nasogastric feeds are thought to be a part of palliation, no-one is clear about others that prolong poor quality of life such as diuretics or oxygen. It may be argued that each case should be individualised and parent's decision should be final for non-invasive treatment. However when looking at baby's best interest, this poses a real challenge to neonatologists.