Mortality and Morbidity of VLBW Infants With Trisomy 13 or Trisomy 18

Abstract

WHAT'S KNOWN ON THIS SUBJECT: Infants with trisomy 13 (T13) or trisomy 18 (T18) are known to have poor survival. Little is known about how very low birth weight (VLBW) impacts survival and morbidities among infants with T13 or T18. WHAT THIS STUDY ADDS:We examined the risks of mortality and neonatal morbidities for VLBW infants with T13 or T18 compared with VLBW infants with trisomy 21 and VLBW infants without birth defects in a 16-year cohort from the Neonatal Research Network. abstract OBJECTIVE: Little is known about how very low birth weight (VLBW) affects survival and morbidities among infants with trisomy 13 (T13) or trisomy 18 (T18). We examined the care plans for VLBW infants with T13 or T18 and compared their risks of mortality and neonatal morbidities with VLBW infants with trisomy 21 and VLBW infants without birth defects. METHODS:Infants with birth weight 401 to 1500 g born or cared for at a participating center of the Eunice Kennedy Shriver National Institute of Child Health and Human Development Neonatal Research Network during the period 1994-2009 were studied. Poisson regression models were used to examine risk of death and neonatal morbidities among infants with T13 or T18. RESULTS:Of 52 262 VLBW infants, 38 (0.07%) had T13 and 128 (0.24%) had T18. Intensity of care in the delivery room varied depending on whether the trisomy was diagnosed before or after birth. The plan for subsequent care for the majority of the infants was to withdraw care or to provide comfort care. Eleven percent of infants with T13 and 9% of infants with T18 survived to hospital discharge. Survivors with T13 or T18 had significantly increased risk of patent ductus arteriosus and respiratory distress syndrome compared with infants without birth defects. No infant with T13 or T18 developed necrotizing enterocolitis. CONCLUSIONS:In this cohort of liveborn VLBW infants with T13 or T18, the timing of trisomy diagnosis affected the plan for care, survival was poor, and death usually occurred early. Pediatrics 2014;133:226-235

Major anomalies and birth-weight influence NICU interventions and mortality in infants with trisomy 13 or 18

“…A publication from the NICHD Neonatal Research Network highlighted the high mortality of VLBW infants with T13 or T18. (1) Our study extends those findings by highlighting the survival of infants larger than 1500g, who represent >75% of NICU admissions with T13 or T18. Our major conclusions are:…”

“…(1–21) Multi-center studies are limited to very-low-birth-weight (VLBW) infants (1) or to older survivors for whom information on neonatal management is lacking. (22) Parent surveys report many infants who survive past 1 year, but there is no denominator of how many infants received neonatal intervention or what kinds of intervention they received.…”

The Neonatal Research Network: History since 2003, future directions and challenges

“…4–6 The registry data from the generic data base as well as follow-up has been the source of multiple publications, many of whom have had junior faculty members as first authors with NRN principal investigators as mentors. The registry data has made contributions to knowledge gaps including outcome following congenital heart disease, 7 antenatal corticosteriod use, 8 fetal growth restriction, 9,10 Trisomy 13 and 18, 11 and neuroimaging among extremely low gestational age infants. 12,13 …”

Down syndrome fibroblasts exhibit diminished autophagic clearance and endosomal dysfunction after serum starvation

“…Down syndrome (DS) is a genetic condition originating from the presence of a third copy of chromosome 21 (Tri21) (1) and is the only known trisomy that does not result in early life lethality (2). DS is characterized by a variable phenotype with several comorbidities, including Alzheimer's disease (AD) (1), cognitive disabilities (3), diabetes (4), and leukemia (5)(6)(7).…”