Survival and Surgical Interventions for Children With Trisomy 13 and 18

Abstract

MDCM IMPORTANCE Trisomy 13 and 18 are genetic diagnoses with characteristic physical features, organ anomalies, and neurodevelopmental disability. Most children with these disorders die shortly after birth, although limited data suggest some children survive longer. Surgeries are controversial, and little evidence is available about outcomes. OBJECTIVE To describe survival and utilization of any type of surgery among children with trisomy 13 and 18 born over a 21-year period in Ontario, Canada. DESIGN, SETTING, AND PARTICIPANTS This retrospective cohort study used linked health administrative databases to identify children born in Ontario between April 1, 1991, and March 31, 2012, with a diagnosis code for trisomy 13 or 18 on a hospital record in the first year of life. Survival was calculated from birth and death dates; children living on March 31, 2013, were censored at their last clinical encounter. EXPOSURES All procedures classified as occurring in an operating room through March 31, 2013, were categorized as major, intermediate, or minor surgeries. MAIN OUTCOMES AND MEASURES Survival and surgical procedure utilization. RESULTS The cohorts included 174 children with trisomy 13 (mean [SD] birth weight, 2.5 [0.7] kg; 98 [56.3%] female); and 254 children with trisomy 18 (mean birth weight, 1.8 [0.7] kg; 157 [61.8%] female), with follow-up times of 0 to more than 7000 days. Median (interquartile range [IQR]) survival times were 12.5 (2-195) days for trisomy 13 and 9 (2-92) days for trisomy 18. One-year survival for trisomy 13 was 19.8% (95% CI, 14.2%-26.1%) and 12.6% (95% CI, 8.9%-17.1%) for trisomy 18. Ten-year survival for trisomy 13 was 12.9% (95% CI, 8.4%-18.5%) and 9.8% (95% CI, 6.4%-14.0%) for trisomy 18. Survival did not change over the study period. Forty-one children (23.6%) with trisomy 13 and 35 children (13.8%) with trisomy 18 underwent surgeries, ranging from myringotomy to complex cardiac repair. Median age at first surgery for trisomy 13 was 92 (IQR, 30.5-384.5) days and for trisomy 18, it was 205.5 (IQR, 20.0-518.0) days. Kaplan-Meier curves showed 1-year survival after first surgery of 70.7% (95% CI, 54.3%-82.2%; n = 23) for trisomy 13 and 68.6% (95% CI, 50.5%-81.2%; n = 29) for trisomy 18. CONCLUSIONS AND RELEVANCE Among children born with trisomy 13 or 18 in Ontario, early mortality was the most common outcome, but 10% to 13% survived for 10 years. Among children who underwent surgical interventions, 1-year survival was high.

Chromosomal abnormalities: subgroup analysis by maternal age and perinatal features in zhejiang province of China, 2011–2015

“…Approximately half of the fetal tissue of abnormal fetuses and spontaneous abortions exhibited chromosomal abnormalities [10]. Even among live births with chromosomal abnormalities, postnatal survival remained poor [11, 12]. In one cohort study, among infants with T18, 1-year survival was 12.6%; for T13, it was 19.8% [11].…”

“…Even among live births with chromosomal abnormalities, postnatal survival remained poor [11, 12]. In one cohort study, among infants with T18, 1-year survival was 12.6%; for T13, it was 19.8% [11]. Those infants with T21 who received active interventions still faced an increased risk of mental and motor development delay later in life [13].…”

Obstetricians' views on the ethics of cardiac surgery for newborns with common aneuploidies

“…Of 24 patients who had cardiac defects and underwent cardiac surgery, with most being performed at less than one year of age, 21 patients were still living (87.5%) at the time of the survey. Later that year, Nelson et al published data from Ontario, Canada, between 1991 and 2012, describing survival and surgical procedures among 254 children with trisomy 18 and 174 children with trisomy 13. The median survival times for trisomies 18 and 13 were nine and 12.5 days, respectively.…”

“…However, over the past 15 years, there have been a number of manuscripts published in the medical literature describing the outcomes of infants with trisomies 18 and 13 who underwent cardiac surgical repair . These reports have been accompanied by the formation and/or strengthening of advocacy and support organizations for patients and families with trisomies . These events have empowered parents of babies with trisomy 18 or 13 to initiate discussions about congenital heart surgery, sometimes contacting the offices of pediatric cardiovascular surgeons directly.…”

Ureteral reimplantation for vesicoureteral reflux in a patient with trisomy 18

“…The response to trisomy 18 has changed over the years. The 1 year survival rate was 12.6%, but the 10 year survival rate was 9.8% . The majority of children surviving 1 year lived 10 years or longer.…”