Author ORCID Identifier


Date of Graduation


Document Type

Thesis (MS)

Program Affiliation

Genetic Counseling

Degree Name

Masters of Science (MS)

Advisor/Committee Chair

Rebecca Carter, MS

Committee Member

Helena Gardiner, MD PhD

Committee Member

S. Shahrukh Hashmi, MD

Committee Member

Hector Mendez-Figueroa, MD

Committee Member

Victoria Miller, MA

Committee Member

Blair Stevens, MS


Trisomy 18 is an autosomal trisomy characterized by minor to major birth defects, severe disabilities, and high rates of pre- and neonatal mortality. Interventions for these infants have traditionally been withheld with focus instead on palliative support. The issues and attitudes surrounding surgical treatment of congenital heart defects, which occur 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. In this study, the attitudes of clinicians of multiple specialties towards cardiac surgery for infants with trisomy 18 was evaluated along with approaches used by cardiac surgeons to determine candidates for surgery. Of the 378 participants, 48% felt it was appropriate to discuss the option of cardiac surgery. Ethical considerations and insufficient outcome data were the most agreed upon reasons for not offering cardiac surgery in majority of clinicians. Overall, prenatal physicians were more likely to disagree with offering cardiac surgery than postnatal physicians and genetic counselors. Trisomy 18 not being uniformly lethal was the most agreed upon justification among clinicians in support of offering surgery, followed by respect for expression of parental wishes. Cardiac surgeons were more likely to perform surgery on less complex heart defects in the absence of additional anomalies or presence of less severe anomalies. Results from this study do not seek to suggest uniform care for these infants, but aim to promote discussion and collaboration among clinicians to improve patient care.


Trisomy 18, Congenital heart surgery, Genetics, Aggressive intervention, Ethics



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