Differences in mortality and morbidity according to gestational ages and birth weights in infants with trisomy 18

Abstract

The aim of this study was to clarify the effects of gestational age and birth weight on outcomes of the infants. Medical records of 36 infants with trisomy 18 admitted to Tokyo Women's Medical University Hospital from 1991 to 2012 were reviewed retrospectively. We compared clinical characteristics between term infants (n = 15) and preterm infants (n = 21). There were one very‐low‐birth‐weight (VLBW) term infant (5%) and 12 VLBW preterm infants (80%). Although there were no significant differences in clinical characteristics and provided management between the two groups, none of the preterm infants achieved survival to discharge. On the other hand, 6 of 21 term infants (29%) achieved survival to discharge (P < 0.05). Similar results were obtained for comparisons between the VLBW infants and non‐VLBW infants. Multiple logistic regression analysis revealed that shorter gestational age had a more negative impact than lower birth weight to survival to discharge in infants with trisomy 18. In both preterm and term groups, the infants who died before 30 days commonly died of respiratory failure or apnea. Whereas, the infants who survived more than 30 days mostly died of heart failure. © 2015 The Authors. American Journal of Medical Genetics Part A Published by Wiley Periodicals, Inc.

Prenatal and Postnatal Follow-up in Trisomies 13 and 18: A 20-Year Experience in a Tertiary Center

“…Male gender, cardiovascular abnormalities, prematurity, and very low birth weight negatively affect survival. 6,8,24,28 In keeping with those studies, we found that survival rates were significantly lower in infants with birth weight of <2,000 g and who had more than two anomalies (p ¼ 0.001).…”

“…8,9 Median survival duration reported in term infants who received neonatal intensive care vary between 30 and 152 days, with 1-year survival rate in 25%. 6,8,17,27 Nonetheless, long-term outcomes have not been reported in infants who survived beyond 1 year of age.…”

“…interventions, as well as the karyotype and associated anomalies. 6,7 Only 5 to 10% of the patients survive beyond the first year and survivors always have severe intellectual disability and several morbidities. 8 The poor neonatal survival rate and significant cognitive and motor disabilities in surviving children are the major factors affecting prenatal counseling and postnatal management in both conditions.…”

Congenital Heart Surgery on In-Hospital Mortality in Trisomy 13 and 18

“…6 In the most prevalent forms of CHD represented in T13 and T18, CHS may not be warranted in the neonatal period; however, the symptomatic burden of CHD often precipitates surgical intervention. Additionally, respiratory dysfunction and pulmonary abnormalities, which have been reported to be the cause of death in T18 for those <1 month of age, 27 are exacerbated by the presence of CHD. It is likely that removing the influence of even relatively simple forms of CHD on respiratory issues played a role in the improved survival-to-hospitaldischarge rate seen in our study.…”

Attitudes of clinicians toward cardiac surgery and trisomy 18

“…infants with T-18 have greatly complex heart defects such a hypoplastic left heart syndrome and transposition of the great arteries (Baty, Blackburn, & Carey, 1994;Bruns & Martinez, 2015;Kavarana, 2016;Van Dyke & Allen, 1990). Heart failure secondary to an unrepaired cardiac defect is considered one of the major causes of deaths in infants with T-18 along with respiratory failure or central apnea (Cereda & Carey, 2012;Embleton et al, 1996;Imai et al, 2015).…”