Deborah A. Bruns, Ph.D.
Emily Campbell
SOFT Conference
July 2013
Providence/Warwick, RI
This session will provide an overview of the
Tracking Rare Incidence Syndromes (TRIS)
project along with data focusing on long-term
survivors with trisomy 18 and 13. Findings
describing medical conditions at birth and
their resolution will be
presented and implications
offered for the provision for
optimal services and
interventions.
Annabel, 8 years
The Tracking Rare Incidence Syndromes
(TRIS) project seeks to increase awareness and
knowledge for families and professionals
touched by rare trisomy conditions and aims to
facilitate improved decision making for optimal
services and supports for affected children and
their families.
TRIS project components
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Database development through parent contacts,
links with rare trisomy groups and online searches
TRIS Survey (baseline survey) collects information on
birth history, medical issues, developmental progress
and family support needs. In addition, TRIS Follow-up
Survey collects updates annually on key items from
the TRIS Survey.
Dissemination of results through presentations
and publications
Collaboration with families and experts in field
Outreach for raising awareness and recruitment
Background information
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Newborns with trisomy 18 present with distinctive physical
characteristics including low-set ears, clenched hands, and
rocker bottom feet (Jones, 2006). Common medical
conditions include apnea, cardiac anomalies such as
ventricular septal defect (VSD), pulmonary hypertension,
compromised respiratory functioning that may require
mechanical support, kidney malformations and feeding
difficulties. Newborns with trisomy 13 exhibit similar
physical characteristics and medical conditions.
In the literature, there is an assumption of a limited quality
of life for newborns with these conditions. This is used as a
rationale for the denial of intensive treatment (Chervenak &
McCullough, 2012, Merritt et al., 2012).
Background information continued
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The majority of published reports point to a bleak
prognosis. For example, a number of population-based
studies stress early mortality and life threatening medical
conditions (Crider et al., 2008; Rasmussen et al., 2003;
Vendola et al., 2010). Most research points to only 5–10%
of infants reaching their first birthday (Rasmussen et al.,
2003).
A literature base describing survivors over the age one year
is emerging with reports of children with t18 reaching their
second, third and beyond birthdays (Bruns, 2010; Carey,
2012 ; Imataka et al., 2007).
There is a need to examine medical conditions noted at
birth and the immediate perinatal period, along with the
presence or absence of the same conditions coupled with
medical treatment and outcomes in long-term survivors
with trisomy 18 and 13 (full and mosaic types).
TRIS project results
Mothers of 21 newborns with full t18 (13 survivors; 8 died prior to
mothers' participation in the study). Newborns presented with
syndrome-related physical characteristics (e.g., low-set ears, small
jaw) and medical conditions (e.g., heart defects). Gestational age
was generally older than what is described in the existent
literature. In the NICU, newborns were provided with a variety
of equipments (e.g., nasal cannula, pulse oximeter) and received
treatments including blood transfusions and echocardiograms.
Data also indicate longer survival rates (103.3 months for
survivors, 37.5 months for non-survivors) than that described
in the literature. Data indicate presence of common presenting
physical and medical characteristics and varied medical assistance
to newborns with full t18.
Bruns, D. A. (2010). Neonatal experiences of newborns with full
trisomy 18. Advances in Neonatal Care, 10(1), 25-31.
TRIS project results continued
Mothers of 30 long-term survivors with full t13 completed an online
survey including maternal and paternal age at conception, physical
characteristics, and medical conditions were compared. Data indicate
longer mean survival rates (48.4 months for those living at the time of
data collection, 40.8 months for those who died prior) than described in
the literature. Means for gestations age, birth weight, and length are 38.11
weeks, 2,789.34 g and 48.45 cm, respectively. Long-term survivors
presented with syndrome-related physical characteristics (e.g., low-set
ears, cleft lip and palate) and medical conditions (e.g., VSD), feeding
difficulties). We conclude that data indicate longer survival and a range in
birth information (gestational age, birth weight, and length) along with
presence of common presenting physical characteristics and medical
conditions of long-term survivors with full t13.
Bruns D. (2011). Birth history, physical characteristics, and medical
conditions in long-term survivors with full trisomy 13. American Journal
of Medical Genetics Part A 155: 2634–2640.
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TRIS project database
as of July 8, 2013
265 TRIS Full Surveys completed since 2/1/07
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Trisomy 18
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Trisomy 13
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74 diagnosed with full trisomy 18 (27.9%)
16 diagnosed with trisomy 18 mosaic (6%)
39 diagnosed with full trisomy 13 (14.7%)
13 diagnosed with trisomy 13 mosaic (4.9%)
Majority in each group were living at time of survey
completion (56/18, 76%, 15/1, 94%, 21/18, 54% and
12/1, 92% respectively)
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Age range of survivors varied (3-394 months,
4-309 months, 2-167 months and 9-405 months
respectively)
Results: full t18
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Analysis began March 2012: 41 surveys represented
long-term survivors with full t18 over 12 months of age
Mean age at survey completion was
98.38 months (range=13-394 months)
Gestational age: M=39.26 weeks
Birth weight: M=2078.74 grams
Birth length: M=44.79 centimeters
33 (80%) were discharged within
four weeks
(M= Mean)
Rebekah, 4 years
Results: full t18 continued
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ASD= 19/39* (49%) at Birth
 4/19 (21%) repaired
PDA= 24/41 (59%) at Birth
 5/24 (21%) repaired
VSD= 34/41 (83%) at Birth
 7/34 (21%) repaired
Feeding Difficulties
 34/41 (83%) at Birth
 29/41 (71 %) at Survey
Apnea
 21/34* (62%) at Birth
 7/34*(21%) at Survey
4/41 (9%) with a tracheotomy
(M=mean)
Ava, 6 years
Results: t18 mosaic
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Eight surveys represented long-term survivors
with t18 mosaic over 12 months of age
Mean age at survey was 61.5 months
(range 28-109 months)
Gestational age: M=38 weeks
Birth weight: M=2081.44 grams
Birth length: M=34.14 centimeters
All were discharged within 4 weeks
Giuliana, 2 years
(M=Mean)
Results: t18 mosaic continued
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ASD= 4/8 (50%) at Birth
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PDA= 2/8 (25%) at Birth
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Dominic, 4 years
Ellie, 8 years
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2/2 (100%) repaired
VSD= 3/8 (38%) at Birth
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2/4 (50%) repaired
2/3 (67%) repaired
Feeding Difficulties
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7/8 (88%) at Birth
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2/8 (25%) at Survey
Apnea
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3/8 (38%) at Birth
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1/8 (13%) at Survey
2/8 (25%) with a tracheotomy
Results: full t13
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14 surveys represented long-term survivors
with full t13 over 12 months of age
Mean age at survey was 70.86 months
(range 24-167 months)
Gestational age: M=38 weeks*
Birth weight: M=2748.33 grams*
Birth length M=47.41 centimeters*
12 (86%) were discharged
within 4 weeks*
(*Incomplete data, M=Mean)
Arianna, 7 years
Results: full t13 continued
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ASD= 6/14 (43%) at Birth
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PDA= 2/14 (14%) at Birth
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VSD= 3/14 (21%) at Birth
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1/14 (7%) healed
Feeding Difficulties
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10/14 (71%) at Birth
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8/14 (57%) at Survey
Joey, 6 years
Apnea
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7/14 (50%) at Birth
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2/14 (14%) at Survey
No tracheotomies reported
Sofia, 9 years
Results: t13 mosaic
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10 surveys represented long-term survivors
with t13 mosaic over 12 months of age
Mean age at survey was 117.08 months
(range 21-405 months)
Gestational age: M=36.2 weeks
Birth weight: M=2935.4 grams
(range: 2.8 lbs-11.6lbs)
Birth length: M=46.68 centimeters
Eight (80%) were discharged
within 4 weeks
Lillian, 6 years
(M=Mean)
Results: t13 mosaic continued
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ASD= 6/10 (60%) at Birth
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PDA= 4/10 (40%) at Birth
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Isabel, 2 years
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1/10 (10%) repaired
VSD= 6/10 (60%) at Birth
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1/10 (10%) repaired
2/10 (20%) repaired
Feeding Difficulties
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10/10 (100%) at Birth
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1/10 (10%) at Survey
Apnea
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6/10 (60%) at Birth
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2/10 (20%) at Survey
2 children have a tracheotomy
Implications for parents and families
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Longer gestation and higher birth weight appear to
contribute to long-term survival
Success of “aggressive” medical treatment; parents
need to be informed of outcomes as well as benefits
and possible complications of treatment
Be familiar with the literature as well as seek out
anecdotal information from medical professionals
and other parents to assist decision making
Advocate on behalf of your child
Implications for professionals
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Results increase awareness of positive outcomes rather
than emphasizing mortality
Treatment decisions should be based on “best interest”
of the child, parent preferences based on balanced
information and, importantly, on individual infant
physical characteristics and medical condition(s)
Remain current on the literature; move beyond
population studies to small samples and case studies
Conclusion
Results provide a new perspective on
survivors over the age of one year with
t18 and t13. Successful treatment of
common medical conditions associated
with the syndromes are documented.
Data also highlights the need for
decision-making, taking into account
individual characteristics rather than
reliance on general, diagnosis-specific
recommendations
For additional information
Deborah Bruns, Ph.D.
Email: dabruns@siu.edu
Emily Campbell
Email: emilyrosecampbell@gmail.com
TRIS project website:
http://web.coehs.siu.edu/Grants/TRIS/
http://web3.coehs.siu.edu/tris/PreEnroll.php