An analysis of cardiac defects and surgical interventions in 84 cases with full trisomy 18

Abstract

Trisomy 18 (Edwards syndrome) is the second most common autosomal trisomy after trisomy 21. Medical issues commonly include cardiac defects, such as ventricular septal defect (VSD) and atrial septal defect (ASD). If untreated, these conditions can contribute to the associated infant mortality. The objective of the study was review parent-reported information on 84 cases with full trisomy 18 focusing on prenatal and postnatal assessment and confirmation of cardiac defects and on subsequent treatment with cardiac surgery and post-surgery outcomes. At birth, 65 parent responses indicated the presence of VSD (77.4%), 38 ASD (45.2%), and 50 patent ductus arteriosus (PDA) (59.5%). The presence of multiple cardiac defects was also analyzed including 25 cases with VSD, ASD, and PDA at birth. The total reduced to 18 at survey completion. Twenty-four cases had one or more cardiac defects repaired for a total of 34 corrective surgeries. Age at surgery varied from 2 weeks to 41 months of age with most performed under 1 year of age. Twenty-one cases were still living at the time of survey completion (87.5%). From these date we provide recommendations and implications.

Obstetricians' views on the ethics of cardiac surgery for newborns with common aneuploidies

“…In 2016, Bruns and Martinez reported data from a survey of 84 patients with full trisomy 18. Of 24 patients who had cardiac defects and underwent cardiac surgery, with most being performed at less than one year of age, 21 patients were still living (87.5%) at the time of the survey.…”

Attitudes of clinicians toward cardiac surgery and trisomy 18

“…The majority of CHDs seen in infants with T‐18 are ventricular septal defects (VSD), atrial septal defects (ASD), and patent arterial duct (PDA), defined in the literature as moderately complex heart defects. A minority of infants with T‐18 have greatly complex heart defects such a hypoplastic left heart syndrome and transposition of the great arteries (Baty, Blackburn, & Carey, ; Bruns & Martinez, ; Kavarana, ; Van Dyke & Allen, ). Heart failure secondary to an unrepaired cardiac defect is considered one of the major causes of deaths in infants with T‐18 along with respiratory failure or central apnea (Cereda & Carey, ; Embleton et al, ; Imai et al, ).…”

“…Concerns raised included improper allocation of time and resources surgery, harm to infant during and after surgery, as well as ethical considerations including the quality of life after surgery, lack of data supporting improved prognosis, and the potential of providing false hope or unrealistic expectations for the families (Boss et al, ; Graham, ; Janvier, Farlow, & Wilfond, ; Janvier & Watkins, ). Despite these raised concerns, several studies in the last decade (Bruns & Martinez, ; Kaneko et al, ; Kobayashi, Kaneko, Yamamoto, Yoda, & Tsuchiya, ; Maeda et al, ; Yamagishi, ) have described outcomes following cardiac surgery on infants with T‐18, most frequently on VSDs, ASDs, and PDAs. Two studies (Graham, Bradley, Shirali, Hills, & Atz, ; Yamagishi, ) published survival rates of infants with T‐18 after undergoing cardiac surgery, reporting 45% 2‐year survival and 86% hospital survival.…”

“…infants with T-18 have greatly complex heart defects such a hypoplastic left heart syndrome and transposition of the great arteries (Baty, Blackburn, & Carey, 1994;Bruns & Martinez, 2015;Kavarana, 2016;Van Dyke & Allen, 1990). Heart failure secondary to an unrepaired cardiac defect is considered one of the major causes of deaths in infants with T-18 along with respiratory failure or central apnea (Cereda & Carey, 2012;Embleton et al, 1996;Imai et al, 2015).…”

“…Despite these raised concerns, several studies in the last decade (Bruns & Martinez, 2015;Kaneko et al, 2008;Kobayashi, Kaneko, Yamamoto, Yoda, & Tsuchiya, 2010;Maeda et al, 2011;Yamagishi, 2010) have described outcomes following cardiac surgery on infants with T-18, most frequently on VSDs, ASDs, and PDAs. Two studies (Graham, Bradley, Shirali, Hills, & Atz, 2004;Yamagishi, 2010) published survival rates of infants with T-18 after undergoing cardiac surgery, reporting 45% 2-year survival and 86% hospital survival.…”