A small, but substantial portion of children with severe birth defects may survive for up to 10 years, according to a Canadian study.
In the retrospective study of 174 children, the 10-year survival rate associated with trisomy 13 (Patau syndrome) and trisomy 18 (Edwards' syndrome) was around 10%, while the mean 1-year survival rate was between 10% to 20%, reported Katherine E. Nelson, MD, of Hospital for Sick Children in Toronto, and colleagues.
A little under a quarter of children with trisomy 13 (23.6%) and 13.8% of children with trisomy 18 underwent surgical procedures associated with their conditions. Both longer-term survival rates and rates of surgical intervention for this population appeared to be more common than reported in prior research, they wrote in the Journal of the American Medical Association.
Nelson told MedPage Today that their findings really suggest that these diagnoses exist on a spectrum, but early mortality is still quite common -- so it may be important to talk with families about both potential outcomes.
"There have been lots of hints in the literature that some children with trisomy 13 and trisomy 18 can survive longer, but we haven't been able to look at these children surviving into their second decade of life from a population standpoint," she said. "You knew they were out there, but they were much more sporadic, so this was the first time we've been able to identify a group of them within the population."
The researchers examined data from children born in Ontario from 1991 to 2012 using both hospital and health administrative databases. Overall, mean birth rates for both birth defects were stable, with trisomy 13 occurring in 6.0 children per 100,000 live births, and trisomy 18 occurring in 8.8 per 100,000 children.
Of the 174 examined children with trisomy 13 and 254 with trisomy 18, there were 13 and 16 children who were still alive after 10 years, respectively. The median interquartile range of survival was 12.5 days (2-195) for trisomy 13 and 9 days (2-92) for trisomy 18.
Interestingly, 60% of infants with trisomy 18 who were alive at 6 months were alive at 10 years, and survival rates were similar for trisomy 13 (50.5% of infants alive at 6 months were alive at 10 years). Overall, the 10-year survival rate for children with trisomy 13 was 12.9% (95% CI, 8.4%-18.5%) and 9.8% (95% CI 6.4%-14.0%) for children with trisomy 18.
One-year survival rates following surgery were 70.7% (95% CI 54.3%-82.2%) for children with trisomy 13 and 68.6% (95% CI 50.5%-81.2%) for children with trisomy 18. But Nelson cautioned that they don't know how many children survived because of their surgery compared with how many children survived long enough to have surgery in the first place.
"Children who had surgery were about 3-6 months of age, so they were healthier than the population as a whole, so it's hard to see what effect the surgery actually had," she said. "Before we really change practice, we need to think about doing more research on exactly what kind of benefit we can potentially expect for this population."
The most notable study limitation was the lack of information on quality-of-life measures for these patients, but the group added that there is limited literature on the topic.
Nelson said she would like to investigate what factors determine a child's prognosis, adding "the population's prognosis is quite variable, so it would be really helpful for families to understand what factors might be associated with longer survival for a given child.".
In an accompanying editorial, John D. Lantos, MD, of Children's Mercy Hospital in Kansas City, Mo., argued that physicians now face a "stable gray zone" of treatment options for these children, and these decisions should be made partly based on survival rates, potential neurocognitive deficits, and the burden of treatment.
"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," he wrote. "The response to infants with these conditions suggests important features about gray zones in neonatal bioethics that have implications for other decisions about other conditions."
Because of this, Nelson emphasized the importance of treating these patients as individuals rather than a population, and working with families and an interdisciplinary team to discover the best course of action for that particular patient.
This study was partially supported by grants from the Norman Saunders Complex Care Initiative at the Hospital for Sick Children, Toronto, and the Institute for Clinical Evaluative Sciences.
Nelson disclosed support from the Canadian Child Health Clinician Scientist Program and the Clinician Scientist Training Program from the Hospital for Sick Children, Toronto. One co-author disclosed support from the Canadian Institutes for Health Research Applied Chair in Reproductive and Child Health Services and Policy Research.
Nelson and co-authors disclosed no relevant relationships with industry.
Lantos disclosed no relevant relationships with industry.
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