Rethinking the Paradigm: The Evolving Care of Children with Trisomy 13 and 18

Abstract

A chromosomal evaluation should be used to provide better care for a child and their family, not limit it. However, in many pediatric institutions, the diagnosis of a chromosomal abnormality automatically circumscribes the medical and surgical options made available to the family. For example, alongside many other comorbidities (including severe cognitive impairment), infants diagnosed with trisomy 13 or 18 (T13/18) often have cognitive heart defects (e.g., atrial or ventricular septal defects, patent ductus arteriosus, atrioventricular septal defects) that can be successfully repaired or palliated in the general population. However, because T13/18 have historically been considered “lethal” diagnoses or “incompatible with life”, surgical correction of these defects is not frequently offered, and instead infants with these diagnoses are managed with a noninterventionist, “comfort care” approach in which the infant is simply allowed to expire after birth. In recent years, however, more data have emerged from centers that regularly pursue medical and surgical interventions in this population, demonstrating improved outcomes in both quality and quantity of life. Simultaneously, the pediatric ethics literature has argued that treatment decisions for infants with T13/18 are frequently informed by unfounded biases concerning disability and quality of life. Now that neonatology is equipped with improved medical and ethical evidence, the practice of categorically excluding infants with a T13/18 diagnosis from life-saving interventions should be challenged, and instead, parents of these infants should be offered targeted interventions, including corrective and palliative procedures, and included in the process of shared decision-making about which interventions best meet the family’s goals of care.