What if lethal isn’t….lethal?
Dr. Rebecca Moran has
documented that she has no
financial relationships to disclose
or Conflicts of Interest (COIs) to
resolve.
Amazing Newborn Conference
November 4, 2016
Rebecca Moran, MD
Associate Professor, Neonatology
Objectives
Lethal: le·thal
 Sufficient to cause death
 Describe current literature about outcome in Trisomy 18
 Define lethal anomaly
 Discuss surgical considerations in Trisomy 18
 Capable of causing death
 These seem kind of broad to me…
 Synonyms: fatal, murderous, killing
 Lethal anomaly: A defect that is incompatible with life
 Does this define Trisomy 18?
Is lethal the right word?
Trisomy 21 in 1982
 Historically, one year survival for infants with Trisomy 18 is
 Baby Doe
quoted as 10%
 Largest population study of survival among children with T18
shows 28 day survival of 36%, 1 year of 13% & 5 year of
12.3%Meyer, 2016
 These percentages are HUGELY variable between states
 AZ: 14.7 % at 28 days and 4.4% at 1 year
 CO: 26.9 % at 28 days and 13.5% at 1 year
 T21 and tracheo-esophageal fistula, esophageal atresia
 Possible coarctation of the aorta
 His parents declined surgery
 Given phenobarbital and morphine
 Held until he died 6 days later
 President Reagan enlisted the Justice Department
 In Japan, one year survival rates are reported to be 75%
 Violation of rights of the disabled, a civil rights violation
 Hospitals could lose funding
 In Chile, “Congenital Anomaly of Poor Prognosis”
 These Baby Doe Rules were essentially dismissed by the
Supreme Court
 BUT…
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 Trisomy 13 and 18 are the only neonatal conditions where
survival has decreased
How similar are they?
Trisomy 21
 Most common autosomal
trisomy
 Affects about 6000 families
per year in the US
 IQ average of 70,
moderate DD
 Parents describe happy
children and families
 Surgical interventions have
improved QOL and
survival
 Unusual to withhold care
Trisomy 18
 2nd most common
autosomal trisomy
 Affects about 2000 families
per year in the US
 Significant DD, profound?
 Parents find daily
happiness, family enriched
 Surgical interventions have
improved QOL and
survival
 Comfort care
 Trisomy 13 survival:
Year
1 month survival
1970’s
40%
1980’s
47%
1990’s
17%
 This decline is presumed due to prenatal diagnosis and comfort
care after birth Janvier, 2016
 Policy statements in US and Europe typically recommend against
life prolonging interventions Mancini 2015, Wyllie 2015
 The pendulum appears to be swinging
Causes of death
Inpatient care of infants with T18
 Apnea
 Used a retrospective US database, 1997-2009
 Cardiac failure
 Hypoventilation, aspiration, upper airway obstruction
 Can we address these issues?
 Is apnea part of the recognized epilepsy syndromes associated
with T18?
 EEG?
 If the cardiac lesion is treated, less risk of heart failure
 Fundoplication, evaluate tracheomalacia
 1690 children with T18
 Most common procedures:
 GI procedures (8.8%)
 Fundoplication, gastrostomy tube, pylorus repair
 Cardiac procedures (7.1%)
 VSD, ASD,PDA, TOF, TA
 12 of 120 were complicated
 Ortho procedures (5.0%)
 Tendon release, hand/foot repair
 Tracheostomy (4.5%)
Cardiac Surgery
Balance
 Surgical risk is lowest for the older, healthier babies who
 Is it fair to call the diagnosis of Trisomy 18 lethal?
don’t have significant co-morbidities and who are breathing
without assistance
 “Simple” lesions (VSD, ASD, PDA) have better outcomes in
contrast to TOF, CoA, Truncus
 Median post surgery length of survival is over 4 years Janvier,
2012
 Kaplan Meier curves show consistently that infants who
survive infancy have a good chance of surviving for years
 Not uniformly
 Is it fair to offer only comfort care at birth?
 Depends…
 It is fair to offer all possible choices?
 I don’t think so
 Should we make recommendations?
 Absolutely
 Stepwise survival: To birth, 24 hours, 1 month, 1 year, 5 years
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Shared Decision Making
Best chance of survival
 A model that incorporates the patient and family’s wishes in
 Be female
guiding care
 Allows evaluation of the individual child and family
 Data suggest this leads to high patient satisfaction
 Be as close to term as possible
 If <32 weeks, morality increases 2 fold
 Be born in a metropolitan area
 Have partial or mosaic T18
 Be born in Japan
 Interestingly presence of congenital heart disease or
omphalocele did not achieve statistical significance
 Complicated CHD vs ASD/VSD
 Possibly related to terminations of the fetuses with the most
malformations
But….
Repetitive offers of termination
 Extremely high rate of in utero death
 Most families report this as a common experience
 Enjoying the pregnancy
 Memory making
 A live birth may be the initial goal
 Mode of delivery?
 Survival for the first day may be the next step
 How do we communicate this?
 “Have you been asked about termination/abortion?”
 “Some families tell me….”
 This focus is not supported on social media or in recent
literature
 Then we conquer feeding and growth
 Oral, NGT, gastrostomy tube
 Respiratory support?
 None, nasal cannula, tracheostomy?
Can you find out why?
 Sometimes the motivation for aggressive intervention needs
to be discovered
 Is it to meet a family member
 Is it because doctors are wrong
 Is it to go home and feel normal
 To see the nursery
 Is it to be baptized
 Is it something else
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What do families want?
What should we avoid?
 To share their child’s name
 Words can hurt. Avoid lethal, fatal, nothing we can do
 To have our counseling tailored to their child
 Perinatal hospice care is not “nothing”
 To know that we won’t abandon them
 Avoid biased predictions
 To know we will treat the child’s pain
 Over counseling
 To support their belief systems
 Extinguishing hope
 This includes having hope
 For us to ask the hard questions
 And answer them
 Give your opinion, balanced, aware of your biases
 In NICU for 36 days
SOFT, trisomy.org
Sophee
 The Support Organization for Trisomy 18, 13 and Related
 Intubated for 4 days
 Feeding ad lib volumes at
discharge, breast feeding
Disorders 2982 South Union Street, Rochester, NY 14624
800-716-7638
 President:
Barbara Vanherreweghe
 Medical Director:
John C. Carey, MD, MPH
 Minor heart disease: PDA
and small VSD
 Admitted to the hospital at 6
months of life
 Diagnosed with
Metapneumovirus
 Died in the hospital after 2
weeks in the PICU
 Died on full support
Hope
Hope, 2 ½
• Discharged from the
NICU in Las Cruces
• 12 days in the NICU
• Home with NGT feeds
and O2
• She has a G-tube now
• She had hepatoblastoma
and got treatment
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UNM Special Delivery Service
Thank you
 Multi-disciplinary prenatal anomaly management team
 Amazing Newborn Event Organizers, Tara Dupont, MD and Kathy
 MFM, NICU
 All adult & pediatric sub-specialties
 University of New Mexico, Divisions of Neonatology & Maternal
 Care of complex fetal diagnoses or maternal diagnoses affecting
the pregnancy
 Perinatal Palliative Care
 Nurse Coordinator, Brie Anaya
 [email protected]
 505-272-6315
 Rebecca Moran, MD NICU
 [email protected]
Selected References
•
American Journal of Medical Genetics Part C, Seminars in Medical Genetics Volume 172, Issue 3,
September 2016. Perspectives on the Care and Advances in the Management of
Children with Trisomy 13 and 18
•
Annie Janvier, Barbara Farlow, and Benjamin S. WilfondThe Experience of Families With Children
With Trisomy 13 and 18 in Social Networks. Pediatrics 2012; 130:2 293-298.
•
Annie Janvier, et al. Cardiac Surgery for children with trisomies 13 and 18: Where are we now?
Seminars in Perinatology. 40; 2016. 254-260.
•
Josephsen JB, et al. Procedures in the 1 year of life for Children with T13 and 18. AM J of Med
Genetics. 172c:264-271, 2016.
•
Mancini ME, et al. Part 3:ethical issues 2015 AHA Guidelines update for CPR. Circulation. 2015;
132: S383-396.
•
Nelson KE, et al. Inpatient Hospital Care of Children with Trisomy13 and 18 in the US. Pediatrics.Vol
129:5. 2012.
•
Nelson KE, et al. Survival and Surgical Interventions for Children with T13 and 18. JAMA. 2016;
316 (4) 420-428.
•
Wyllie J, et al. European Resuscitation Council Guidelines for Resuscitation 2015. Resuscitation.
2015.
Romero, RN
Fetal Medicine, Special Delivery Service
 Carol Clericuzio, MD, Professor of Pediatrics, University of New
Mexico Children’s Hospital
 Steve Leuthner, MD, MA, Professor of Pediatrics, Children’s
Hospital of Wisconsin
 Our Special Delivery patients, especially Sophee, Hope,
 Mariposa Pediatric Hospice
Hope & Sophee
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