After my previous post on this topic, John Lantos wrote a comment pointing out this recent publication, Nelson KE, et al. Survival and Surgical Interventions for Children With Trisomy 13 and 18. JAMA. 2016;316(4):420-8. It is a large regional cohort, identified from hospital records and linked death data. Included patients were those with a hospital discharge diagnosis during the first year of life including trisomy 13 and 18, which could possibly be incomplete, and/or include patients with other disorders, but I think it’s probably as good, or better than many other methods. It also includes some children with mosaicism or translocations. 428 children were included in the study who were born between 1991 and 2012 in the province of Ontario, with these results for 1 year and 15 year survival:

As you can see survival to 1 year and to 15 years was not that unusual, as the results show

One-year survival was 19.8% (95% CI, 14.2%-26.1%) for children with trisomy 13, and 12.6% (95% CI, 8.9%-17.1%) for children with trisomy 18. At 10 years, 12.9% (95% CI, 8.4%-18.5% [n = 13]) of the trisomy 13 cohort was alive, and 9.8% (95% CI, 6.4%-14.0% [n = 16]) of the trisomy 18 cohort was alive.

They also investigated survival after surgery, 76 of the children had a surgical procedure, with a big variety of procedures, and most of them were in older infants, over 6 months of age, with the exception of the first cardiac or GI procedure among trisomy 18 infants. Most of the babies (about 70%) survived for at least a year after surgery.

Survival curves are presented in the supplementary appendix in a different way, they show for example that for trisomy 13, if the baby is alive at 1 week of age then survival to 1 month was 75% (95% CI 65-83%) survival to 1 year was 36% (CI 26-45%), to 5 years was 27% (CI 19-36%) and to 10 years was 23% (CI 15-32%). The corresponding figures for trisomy 18 are 67% (58-74%), 25% (17-32%), 22% (15-30%), and 19% (13-26%).

Because of the nature of these data there is, of course, no information about decision-making, which clearly has a large effect in this condition, as I noted in the previous post, death in the first day of life is almost completely confined to infants with a decision for comfort care only.

Dr Lantos writes the accompanying editorial, in which he discusses the decision-making ethics. He has the following to say:

The concept of quality of life is too vague and subjective to be helpful as a criterion for deciding about the appropriateness of treatment. No one can know with certainty what any infant is thinking, feeling, or experiencing, but what is observed can be interpreted. Children with trisomy 13 and 18 smile and laugh. They are not in pain. They give and receive love. These factors suggest that their subjective quality of life is not so poor that life-prolonging treatment should not be offered. Generally, the phrase quality of life is misused as a synonym for physical or neurological impairment. But if impairment is to be discussed, accurate terminology should be used. Some infants and children can have severe impairments and still have an excellent quality of life.

I’m not sure that I agree that Quality of Life is not helpful as a criterion, it seems that Dr Lantos isn’t sure either, as he states that subjective quality of life is “not so poor that life-prolonging treatment should not be offered” which seems to me to contradict the first sentence. I do agree though, that we shouldn’t just say that quality of life is OK, and then not take anything else into account, I don’t think it should be the only criterion. I think the insight about the misuse of the terminology is spot-on though, there are many health-care workers who don’t think that an impaired, or severely impaired child can have a good quality of life. John kindly references a publication I co-authored for that last statement (Payot A, Barrington KJ. The Quality of Life of Young Children and Infants with Chronic Medical Problems: Review of the Literature. Current Problems in Pediatric and Adolescent Health Care. 2011;41(4):91-101), I would have phrased that a little differently, and noted rather that there is little or no correlation between severity of impairments and quality of life. If we recall from one of Dr Saroj Saigal’s studies, the only participant who scored their quality of life lower than zero (worse than being dead) was one of the controls. Presumably a depressed adolescent who I hope got a psych referral.

John Lantos’s editorial is perceptive and clear, and I certainly agree with his conclusions; which are basically that the diagnosis is not by itself enough to deny active medical intervention for children with these conditions, that a complete evaluation of the baby (or fetus) should lead to decision-making driven by parental values.