P0531 - Complete Trisomy 22 and Congenital Heart Repair: The impact of shared decision making

Background: Cases of non-mosaic liveborn Trisomy 22 infants are rare in the literature. The reported lifespan of complete, non-mosaic Trisomy live births range from minutes to 3 years, though the majority rarely live past the first 2 weeks. Cases with longer-term survival are not typically associated with severe cardiac anomalies. Many centers do not offer cardiac surgery for infants with Trisomies 13 and 18, though this landscape is currently evolving. For those who have undergone congenital heart surgery, studies have found that median survival times are reported as longer than previously known. Contrarily, the in-hospital mortality rate for those infants are higher than in the general population for the surgeries they received. Rare autosomal trisomies such as Trisomy 22 have an even more uncertain place in this new evolving landscape of cardiac repair, as they remain poorly described in the literature

Case Presentation: We present a female infant who was born full term with a prenatal diagnosis of Trisomy 22 diagnosed at 26 weeks via amniocentesis. Fetal ultrasound showed multiple cardiac anomalies which were confirmed on post-natal echocardiogram, including bicuspid aortic valve, severely hypoplastic transverse aortic arch, large secundum atrial septal defect, unrestrictive patent ductus arteriosus, double outlet right ventricle, and large ventricular septal defect. Palliative care and genetics were involved in counseling during the prenatal period, then throughout multiple stages of the perinatal time. Using a shared decision model (Figure 1) which allowed for a goal-directed conversation, the family consented to surgical repair at one week of life, which the infant tolerated without significant complications, and has now provided >7 months of survival.

Conclusions: Limited available data in rare trisomies provides a significant challenge in perinatal counseling. Survival of patients with non-mosaic Trisomy 22 who undergo CHS remains poorly described. Out of the previously described cases of patients with complete Trisomy 22, only one patient underwent cardiac repair at 10 weeks of life, and died on postoperative day 6 from postoperative complications. This outlines a challenge in counseling for clinicians: How do we guide families in a shared-decision-making model when outcomes are uncertain and there is a lack of available supporting data? This case highlights the importance of using the shared-decision-making model in order to allow both families and providers to have a discussion about surgical outcomes when prognostic uncertainty exists.