‘Trisomy 13 and 18 occurs in 8 – 15 per 100 000 live births.’ Trisomy 13 and 18 are a pair of severe genetic conditions that can affect multiple organs of a child. These conditions are caused by an extra copy of the 13th or 18th chromosome, and are associated with problems of the heart, brain and other organs, as well as developmental delays and characteristic hand and foot anomalies. Half of the babies diagnosed with these conditions die within the first few days or weeks of their life, however a small fraction of these children survive beyond one year and rarely much longer. For many years healthcare providers have debated the effectiveness of medical interventions for children with trisomy 13 and 18. In the past doctors have avoided surgery largely because of uncertainty about the potential benefit.
New research recently undertaken by The Hospital for Sick Children (SickKids) and the Institute for Clinical Evaluative Sciences (ICES) has found that although mortality is the most common outcome for children with trisomy 13 and 18, the children who do survive live much longer than previous research has shown. Researchers evaluated 174 children with trisomy 13 and 254 with trisomy 18, who were born in Ontario from April 1991 to March 2012, they found the following:
- Among the 44 children with trisomy 13 who were alive at six months, 51 per cent were alive at 10 years;
- Among the 40 children with trisomy 18 who were alive at six months, 60 per cent were alive at 10 years;
- Fewer than 25 per cent of children with trisomy 13 and 18 underwent surgical procedures;
- Babies typically underwent their first surgeries at about 92 days (trisomy 13) and 205 days (trisomy 18) following birth;
- Interventions ranged from minor procedures to drain fluid from the eardrum, to complex cardiac repairs;
- One-year post-operative survival among children with trisomy 13 was 70.7 per cent;
- One-year post-operative survival for those with trisomy 18 was 68.6 per cent.
Dr Astrid Guttman, Staff Paediatrician and Associate Senior Scientist at SickKids and Chief Science Officer and Senior Scientist at ICES, said “Our findings show that more than half of children who survived six months actually lived 10 years or more. Long term survival is more common than was previously expected and some of these children went on to have a range of different surgeries,” she continued to say “Further research should help healthcare providers better understand the detailed clinical characteristics of children with trisomy 13 and 18 who have surgery. It should also assess important outcomes that go beyond survival, including quality of life of the child and family.” This research is the first large study to examine the long-term survival and surgeries among children with trisomy 13 and 18. To read this full article, click here.