Guidance for Caring for Infants and Children With Trisomy 13 and Trisomy 18: Clinical Report

Abstract

Over the last several decades, there has been a steady increase in medical and surgical interventions provided for infants and children with trisomy 13 or trisomy 18 (chromosomal syndromes associated with a range of congenital anomalies and universally severe neurodevelopmental impairment). Despite previous characterizations of these disorders as being uniformly lethal, multiple studies have demonstrated improved morbidity and mortality when indicated interventions, such as cardiac surgery, are performed, and these interventions and their potential risks and benefits can be carefully explored with parents who may wish to pursue them. Although the presence of trisomy 13 or trisomy 18 impacts prognosis for survival and long-term outcomes and cannot be disregarded in complex decision making, there are no ethical justifications for universal, principle-based differential treatment based solely on these genetic diagnoses. Thus, which medical and surgical interventions are offered, denied, or required for patients should be based on the best available evidence and appropriately tailored to the individual's clinical context, should respect the same moral principles as are applied to other children, and should not vary widely between institutions. Pediatric and obstetric clinicians participating in the care of these patients should maintain current knowledge of the literature to provide adequate counseling through a shared decision-making process and offer the broad range of support that is needed for families throughout the continuum of care from the prenatal to postnatal time period and extending throughout the child's life.