Trisomy 18 and Complex Congenital Heart Disease: Seeking the Threshold Benefit

Boss, Renee D.; Holmes, Kathryn W.; Althaus, Janyne; Rushton, Cynda Hylton; McNee, Hunter; McNee, Theresa

doi:10.1542/peds.2012-3643

Cited by 30 publications

(19 citation statements)

References 16 publications

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“…While our study provides evidence that there is clinician support of the discussion of the option cardiac surgery, many clinicians expressed disagreement with offering cardiac surgery in light of the lack of outcome data and ethical principles such as nonmaleficence, beneficence, and justice. These findings support and further validate previous studies (Boss et al, ; Graham, ; Janvier et al, ) that have identified the same concerns and were unsurprising, as the ethical nature of such surgery is an important and recurrent topic in discussions between clinicians and families when deciding if cardiac surgery is appropriate (Janvier et al, ). Many hospitals offer access to an ethics committee consult, which may be warranted to aid in parsing out these complex ethical issues.…”

Section: Discussionsupporting

confidence: 89%

“…In our study, clinicians' attitudes were examined surrounding common themes that have emerged in previous literature on this topic (Boss et al, ; Graham, ; Janvier et al, ; Janvier & Watkins, ). While our study provides evidence that there is clinician support of the discussion of the option cardiac surgery, many clinicians expressed disagreement with offering cardiac surgery in light of the lack of outcome data and ethical principles such as nonmaleficence, beneficence, and justice.…”

Section: Discussionmentioning

confidence: 99%

“…Justification for palliative care approaches over corrective cardiac surgery has been previously explored in the literature. Concerns raised included improper allocation of time and resources surgery, harm to infant during and after surgery, as well as ethical considerations including the quality of life after surgery, lack of data supporting improved prognosis, and the potential of providing false hope or unrealistic expectations for the families (Boss et al, ; Graham, ; Janvier, Farlow, & Wilfond, ; Janvier & Watkins, ). Despite these raised concerns, several studies in the last decade (Bruns & Martinez, ; Kaneko et al, ; Kobayashi, Kaneko, Yamamoto, Yoda, & Tsuchiya, ; Maeda et al, ; Yamagishi, ) have described outcomes following cardiac surgery on infants with T‐18, most frequently on VSDs, ASDs, and PDAs.…”

Section: Introductionmentioning

confidence: 99%

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Attitudes of clinicians toward cardiac surgery and trisomy 18

Kaulfus

Gardiner²,

Hashmi

et al. 2019

Journal of Genetic Counseling

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Trisomy 18 is an autosomal trisomy condition characterized by minor to major birth defects, severe disabilities, and high rates of pre‐ and postnatal mortality. Interventions for these infants have traditionally been withheld with focus instead on palliative support. The issues and attitudes surrounding corrective surgery of congenital heart defects, which is a birth defect that occurs in approximately 90% of infants with trisomy 18, is of our study's interest as recent literature has indicated that cardiac surgery is being performed and may lead to improved survival compared to palliative care. Thus, our study aimed to describe clinician attitudes toward cardiac surgery and trisomy 18. We surveyed 378 clinicians from multiple specialties, including genetic counselors, involved in the pre‐ and postnatal care of infants with trisomy 18. Descriptive statistics were performed to describe all clinicians' responses, and a secondary analysis with stratifications by clinician type was also performed. Forty‐eight percent (n = 378) of clinicians felt it was appropriate to discuss the option of cardiac surgery. Ethical concerns and insufficient outcome data were the most agreed upon reasons for not offering cardiac surgery. Trisomy 18 not being uniformly lethal and expressed parental wishes were the most agreed upon justifications for offering surgery. Clinicians felt the discussion of the option of cardiac surgery is appropriate, however are hesitant due to ethical concerns and insufficient outcome data. Results from this study aim to promote discussion and collaboration among clinicians to improve consistency in patient care.

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Section: Discussionsupporting

confidence: 89%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Attitudes of clinicians toward cardiac surgery and trisomy 18

Kaulfus

Gardiner²,

Hashmi

et al. 2019

Journal of Genetic Counseling

View full text Add to dashboard Cite

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“…Even though cardiac complications are a major cause of death in PS and ES patients, a large retrospective study demonstrated that cardiac interventions are less common than procedures not related to cardiac pathology, including gastrointestinal, orthopedic, and facial interventions [11]. There is currently no consensus among medical professionals regarding the advisability of operating on CHD in patients following the prenatal diagnosis of PS and ES [1]. Therefore, not surprisingly, PS and ES infants with CHD who survive to birth often die early in life due to heart failure secondary to cardiac malformations.…”

Section: Discussionmentioning

confidence: 99%

A Contemporary, Single-Institutional Experience of Surgical Versus Expectant Management of Congenital Heart Disease in Trisomy 13 and 18 Patients

et al. 2015

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The objective of this study was to examine a large institutional experience of patients with trisomy 13 and trisomy 18 in the setting of comorbid congenital heart disease and present the outcomes of surgical versus expectant management. It is a retrospective single-institution cohort study. Institutional review board approved this study. Thirteen consecutive trisomy 18 patients and three consecutive trisomy 13 patients (sixteen patients in total) with comorbid congenital heart disease who were evaluated by our institution's Division of Cardiovascular Surgery between January 2008 and December 2013 were included in the study. The primary outcome measures evaluated were operative mortality (for patients who received surgical management), overall mortality (for patients who received expectant management), and total length of survival during follow-up. Of the thirteen trisomy 18 patients, seven underwent surgical management and six received expectant management. With surgical management, operative mortality was 29 %, and 80 % of patients were alive after a median follow-up of 116 days. With expectant management, 50 % of patients died before hospital discharge. Of the three patients with trisomy 13, one patient underwent surgical management and two received expectant management. The patient who received surgical management with complete repair was alive at last follow-up over 2 years after surgery; both patients managed expectantly died before hospital discharge. Trisomy 13 and trisomy 18 patients with comorbid congenital heart disease can undergo successful cardiac surgical intervention. In this population, we advocate that nearly all patients with cardiovascular indications for operative congenital heart disease intervention should be offered complete surgical repair over palliative approaches for moderately complex congenital cardiac anomalies.

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“…However, over the past 15 years, there have been a number of manuscripts published in the medical literature describing the outcomes of infants with trisomies 18 and 13 who underwent cardiac surgical repair . These reports have been accompanied by the formation and/or strengthening of advocacy and support organizations for patients and families with trisomies . These events have empowered parents of babies with trisomy 18 or 13 to initiate discussions about congenital heart surgery, sometimes contacting the offices of pediatric cardiovascular surgeons directly.…”

Section: Introductionmentioning

confidence: 99%