Survival of children with trisomy 13 and trisomy 18: A multi‐state population‐based study

Abstract

Trisomy 13 (T13) and trisomy 18 (T18) are among the most prevalent autosomal trisomies. Both are associated with a very high risk of mortality. Numerous instances, however, of long-term survival of children with T13 or T18 have prompted some clinicians to pursue aggressive treatment instead of the traditional approach of palliative care. The purpose of this study is to assess current mortality data for these conditions. This multi-state, population-based study examined data obtained from birth defect surveillance programs in nine states on live-born infants delivered during 1999–2007 with T13 or T18. Information on children’s vital status and selected maternal and infant risk factors were obtained using matched birth and death certificates and other data sources. The Kaplan–Meier method and Cox proportional hazards models were used to estimate age-specific survival probabilities and predictors of survival up to age five. There were 693 children with T13 and 1,113 children with T18 identified from the participating states. Among children with T13, 5-year survival was 9.7%; among children with T18, it was 12.3%. For both trisomies, gestational age was the strongest predictor of mortality. Females and children of non-Hispanic black mothers had the lowest mortality. Omphalocele and congenital heart defects were associated with an increased risk of death for children with T18 but not T13. This study found survival among children with T13 and T18 to be somewhat higher than those previously reported in the literature, consistent with recent studies reporting improved survival following more aggressive medical intervention for these children.

Long-Term Outcomes of Children With Trisomy 13 and 18 After Congenital Heart Disease Interventions

“…However, it is important to appreciate that procedural mortality remains high, even in patients with T13 and 18 who were considered to be acceptable candidates for intervention. Defining the ideal timing for surgical intervention, when offered, is not simple because comorbidities that are independent risk factors for mortality, such as prematurity and low birth weight, can affect this decision [6,19,20]. The 15-year survival was significantly higher for patients who underwent a corrective procedure compared to those who underwent palliative procedures only, but this may reflect more complex forms of underlying cardiac disease or more compromised pre-operative clinical status.…”

“…The influence of mosaicism or partial trisomy on outcomes is important, and our results demonstrated a significant difference in survival between patients with and without reported mosaicism. Previous studies have reported that mosaic or partial forms of T13/T18 may have improved survival compared to those with full forms of trisomy [6,19]. …”

“…Historically, the presence of T13 or T18 has been considered to be incompatible with long term survival, with death occurring frequently within one year and mostly attributed to causes other than the associated CHD [3–5]. A recent large study of children with Trisomy 13 or 18 reported a 5-year survival of 9.7% for children with T13 and 12.3% for children with T18, although clinical treatment data were not available [6]. Because of this short expected lifespan, and the low functional status of these patients, aggressive treatment of associated CHD has been controversial.…”

Prevalence trends of selected major birth defects: A multi‐state population‐based retrospective study, United States, 1999 to 2007

“…The National Birth Defects Prevention Network (NBDPN, ) pooled de‐identified multi‐state population‐based surveillance data for major birth defects, including prevalence and survival by sociodemographic factors (Canfield et al, ; Wang et al, ; Meyer et al, ). We used these data to examine trends in prevalence over time for 26 selected major birth defects, including anomalies of the central nervous, cardiovascular, gastrointestinal, and musculoskeletal systems, oral clefts, and chromosomal anomalies in the United States, from 1999 to 2007.…”

Databases for Congenital Heart Defect Public Health Studies Across the Lifespan

“…The NBDPN also publishes pooled data from participating programs; in the 2012 annual report critical CHD surveillance data were highlighted, and the public health role in newborn screening for critical CHDs was discussed . There is also a data repository with data submitted by several states for infants with birth defects born 1999‐2007, which has been used to study the association of race/ethnicity with birth defects, the survival of infants born with birth defects, and may be used to study other issues related to CHDs.…”