Medical decision-making for infants with trisomy 13 and 18 has many complicating factors, but how to approach surgical treatment of congenital heart defects has been a major issue. Kosiv et al1 have made a significant contribution to our understanding through their comprehensive analysis of outcomes from a large number of infants with these conditions identified in the Pediatric Health Information System database. The database includes information from most large children’s hospitals in the United States and allows for the tracking of infants across hospital admissions at specific institutions. The authors add key information: First, cardiac care is of critical importance because 91% of infants with trisomy 18 and 86% of those with trisomy 13 had congenital heart disease across a spectrum of severity but included many cases of lesions that are considered to be simple and reparable. Second, only 7% of infants underwent congenital heart surgery, demonstrating that these infants often have a different care trajectory than infants who do not have trisomy. The authors imply that decisions to forego surgery may be based on a belief that infants with these trisomies nearly always die regardless, but they found that the 7% of infants who underwent congenital heart surgery had better survival rates than those who did not, at least in the short-term. The median age at last follow-up was 141 and 278 days for infants with trisomy 13 and 18, respectively.
A meta-analysis of 35 studies showed that noninvasive aneuploidy screening of fetal cell–free DNA in maternal blood detects 98% of trisomy 18 and 99% of trisomy 13.2 Recent, widespread uptake of this technology will increase the number of families faced with decision-making with regard to pregnancy continuation and postdelivery treatment planning. Families and their care providers need this up-to-date information about improved survival with cardiac surgery to make the most informed decisions.
Although beyond the scope of the current analysis, there are extracardiac medical complications with significant associated morbidity and mortality risks that must also be considered, including neural tube defects; hydrocephalus; holoprosencephaly; choanal, esophageal, duodenal, anorectal, and/or bile duct atresia; gastroschisis; omphalocele; renal dysplasia; bladder extrophy; seizure disorder; aspiration because of hypotonia and discoordinated feeding; and central apnea.3 Neurocognitive impairment is universal and severe. Most longer-term survivors never learn to speak, although they may be able to communicate with gestures and facial expressions.4
All of these issues must be taken into consideration by parents who are faced with difficult decisions on behalf of their children. In the past, the decisions about congenital heart surgery were made even more difficult by the absence of data and perceived high risk of death or other suffering. Now, the article by Kosiv et al1 provides compelling evidence that congenital heart surgery can be considered. In our view, this should only occur when parents are fully informed of the still significant residual infant mortality risk with cardiac surgery (29%) and unavoidable, severe neurocognitive delays. In addition, this counseling must be part of a comprehensive treatment plan. Caregivers who are assisting families in decision-making should be careful to advise surgery at ages when it is most likely to be successful because a delay in decision-making might make operations even more risky or impossible. The revolution in congenital heart surgery, even in infants over the past decades, has now changed the equation for infants with trisomy 18 and 13 just as it did for trisomy 21 in the past. However, numerous factors must be taken into account to optimize decision-making for each infant and family.
- Accepted August 18, 2017.
- Address correspondence to Kathy Jenkins, MD, MPH, Department of Cardiology, Boston Children’s Hospital, 300 Longwood Ave, Boston, MA 02115. E-mail:
Opinions expressed in these commentaries are those of the authors and not necessarily those of the American Academy of Pediatrics or its Committees.
FINANCIAL DISCLOSURE: The authors have indicated they have no financial relationships relevant to this article to disclose.
FUNDING: No external funding.
POTENTIAL CONFLICT OF INTEREST: The authors have indicated they have no potential conflicts of interest to disclose.
COMPANION PAPER: A companion to this article can be found online at www.pediatrics.org/cgi/doi/10.1542/peds.2017-0772.
- Copyright © 2017 by the American Academy of Pediatrics