Management options and parental voice in the treatment of trisomy 13 and 18

• Published in: Journal of perinatology Vol. 38; no. 9; pp. 1135 - 1143
• Main Authors: Pyle, Alaina K., Fleischman, Alan R., Hardart, George, Mercurio, Mark R.
• Format: Journal Article
• Language: English
• Published: New York Nature Publishing Group US 01-09-2018; Nature Publishing Group
• Subjects: 631/208/2489/1381/1286; 692/700/1720; 692/700/3935; 706/648/179; Care and treatment; Cognition; Congenital anomalies; Congenital defects; Congenital diseases; Data processing; Death; Decision making; Disease management; Edwards' syndrome; Ethical aspects; Feature; Genetic disorders; Health planning; Historical account; Medical schools; Medicine; Medicine & Public Health; Methods; Neonates; Newborn infants; Parenting; Parents; Parents & parenting; Patau's syndrome; Pediatric Surgery; Pediatrics; Perinatology; Social aspects; Surgery; Therapeutics; Trisomy; United States
• ISSN: 0743-8346; 1476-5543
• DOI: 10.1038/s41372-018-0151-6

Trisomy 13 and 18 are rare genetic conditions associated with high rates of congenital anomalies, universal profound neurocognitive deficits, and early death, commonly in the first month after birth. Historically, efforts were made to keep these newborns comfortable, but parents were generally not offered medical or surgical interventions. This practice has begun to change in some hospitals, but remains controversial, and a clear consensus between and even within institutions does not appear to exist. This essay presents a summary of current data and an ethical analysis of the question of whether medical and surgical interventions should be offered to parents of newborns with trisomy 13 or 18. While compelling arguments can be found on both sides, it is here suggested that informed parents should be given a stronger voice in these decisions than has traditionally been the case. In an effort to improve clarity and consistency within single institutions, a process for developing an institutional guideline for management of patients with these, or similar, conditions is presented.