Abstract
There has been substantial controversy regarding treatment of congenital heart defects in infants with trisomies 13 and 18. Most reports have focused on surgical outcomes versus expectant treatment, and rarely there has been an effort to consolidate existing evidence into a more coherent way to help clinicians with decision-making and counseling families. An extensive review of the existing literature on cardiac surgery in patients with these trisomies was conducted from 2004 to 2020. The effects of preoperative and perioperative factors on in-hospital and long-term mortality were analyzed, as well as possible predictors for postoperative chronic care needs such as tracheostomy and gastrostomy. Patients with minimal or no preoperative pulmonary hypertension and mechanical ventilation undergoing corrective surgery at a weight greater than 2.5 kg suffer from lower postoperative mortality. Infants with lower-complexity cardiac defects are likely to benefit the most from surgery, although their expected mortality is higher than that of infants without trisomy. Omphalocele confers an increased mortality risk regardless of cardiac surgery. Gastrointestinal comorbidities increased the risk of gastrostomy tube placement, while those with prolonged mechanical ventilation and respiratory comorbidities are more likely to require tracheostomy. Cardiac surgery is feasible in children with trisomies 13 and 18 and can provide improved long-term results. However, this is a clinically complex population, and both physicians and caretakers should be aware of the long-term challenges these patients face following surgery when discussing treatment options.
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References
Mai CT, Kucik JE, Isenburg J et al (2013) Selected birth defects data from population-based birth defects surveillance programs in the United States, 2006 to 2010: featuring trisomy conditions. Birth Defects Res Part A Clin Mol Teratol 97:709–725
Janvier A, Farlow B, Barrington K (2016) Cardiac surgery for children with trisomies 13 and 18: where are we now? Semin Perinatol 40:254–260
Morris JK, Savva GM, Sawa GM (2008) The risk of fetal loss following a prenatal diagnosis of trisomy 13 or trisomy 18. Am J Med Genet Part A 146:827–832
Cavadino A, Morris JK (2017) Revised estimates of the risk of fetal loss following a prenatal diagnosis of trisomy 13 or trisomy 18. Am J Med Genet Part A 173:953–958
Meyer RE, Liu G, Gilboa SM et al (2016) Survival of children with trisomy 13 and trisomy 18: a multi-state population-based study. Am J Med Genet Part A 170:825–837
Bruns DA, Campbell E (2014) Nine children over the age of one year with full trisomy 13: a case series describing medical conditions. Am J Med Genet Part A 164:2987–2995
Bruns D, Campbell E (2014) Twenty-two survivors over the age of 1 year with full trisomy 18: presenting and current medical conditions. Am J Med Genet Part A 164:610–619
Donovan JH, Krigbaum G, Bruns DA (2016) Medical interventions and survival by gender of children with trisomy 18. Am J Med Genet Part C Semin Med Genet 172:272–278
Cereda A, Carey JC (2012) The trisomy 18 syndrome. Orphanet J Rare Dis 7:81
Springett A, Wellesley D, Greenlees R et al (2015) Congenital anomalies associated with trisomy 18 or trisomy 13: a registry-based study in 16 European countries, 2000–2011. Am J Med Genet Part A 167:3062–3069
Fruhman G, Miller C, Amon E et al (2018) Obstetricians’ views on the ethics of cardiac surgery for newborns with common aneuploidies. Prenat Diagn 38:303–309
Kaulfus ME, Gardiner H, Hashmi SS et al (2019) Attitudes of clinicians toward cardiac surgery and trisomy 18. J Genet Couns 28:654–663
Alberman E, Mutton D, Morris JK (2012) Cytological and epidemiological findings in trisomies 13, 18, and 21: England and Wales 2004–2009. Am J Med Genet Part A 158A:1145–1150
Wu J, Springett A, Morris JK (2013) Survival of trisomy 18 (Edwards syndrome) and trisomy 13 (Patau Syndrome) in England and Wales: 2004–2011. Am J Med Genet Part A 161:2512–2518
Peterson JK, Kochilas LK, Catton KG et al (2017) Long-term outcomes of children with trisomy 13 and 18 after congenital heart disease interventions. Ann Thorac Surg 103:1941–1949
Kosiv KA, Gossett JM, Bai S, Collins RT 2nd (2017) Congenital heart surgery on in-hospital mortality in trisomy 13 and 18. Pediatrics 140:e20170772
Nelson KE, Hexem KR, Feudtner C (2012) Inpatient hospital care of children with trisomy 13 and trisomy 18 in the United States. Pediatrics 129:869–876
Costello JP, Weiderhold A, Louis C et al (2015) A contemporary, single-institutional experience of surgical versus expectant management of congenital heart disease in trisomy 13 and 18 patients. Pediatr Cardiol 36:987–992
Muneuchi J, Yamamoto J, Takahashi Y et al (2011) Outcomes of cardiac surgery in trisomy 18 patients. Cardiol Young 21:209–215
Nelson KE, Rosella LC, Mahant S, Guttmann A (2016) Survival and surgical interventions for children with trisomy 13 and 18. JAMA 316:420
Jacobs JP, O’Brien SM, Pasquali SK et al (2015) The society of thoracic surgeons congenital heart surgery database mortality risk model: part 2—clinical application. Ann Thorac Surg 100:1063–1070
Pont SJ, Robbins JM, Bird TM et al (2006) Congenital malformations among liveborn infants with trisomies 18 and 13. Am J Med Genet Part A 140:1749–1756
Kato E, Kitase Y, Tachibana T et al (2019) Factors related to survival discharge in trisomy 18: a retrospective multicenter study. Am J Med Genet Part A 1:7
Nishi E, Takamizawa S, Iio K et al (2014) Surgical intervention for esophageal atresia in patients with trisomy 18. Am J Med Genet Part A 164:324–330
Kaneko Y, Kobayashi J, Yamamoto Y et al (2008) Intensive cardiac management in patients with trisomy 13 or trisomy 18. Am J Med Genet Part A 146:1372–1380
Kaneko Y, Kobayashi J, Achiwa I et al (2009) Cardiac surgery in patients with trisomy 18. Pediatr Cardiol 30:729–734
Maeda J, Yamagishi H, Furutani Y et al (2011) The impact of cardiac surgery in patients with trisomy 18 and trisomy 13 in Japan. Am J Med Genet Part A 155:2641–2646
Peterson R, Calamur N, Fiore A et al (2018) Factors influencing outcomes after cardiac intervention in infants with trisomy 13 and 18. Pediatr Cardiol 39:140–147
Graham EM, Bradley SM, Shirali GS et al (2004) Effectiveness of cardiac surgery in trisomies 13 and 18 (from the Pediatric Cardiac Care Consortium). Am J Cardiol 93:801–803
Cooper DS, Riggs KW, Zafar F et al (2019) Cardiac surgery in patients with trisomy 13 and 18: an analysis of the society of thoracic surgeons congenital heart surgery database. J Am Heart Assoc 8:e012349
Nakai Y, Asano M, Nomura N et al (2016) Effectiveness of cardiac surgery in patients with trisomy 18: a single-institutional experience. Cardiol Young 26:1391–1396
Curzon CL, Milford-Beland S, Li JS et al (2008) Cardiac surgery in infants with low birth weight is associated with increased mortality: analysis of the Society of Thoracic Surgeons Congenital Heart Database. J Thorac Cardiovasc Surg 135:546–551
Kalfa D, Krishnamurthy G, Duchon J et al (2014) Outcomes of cardiac surgery in patients weighing <2.5 kg: affect of patient-dependent and -independent variables. J Thorac Cardiovasc Surg 148:2499–2506.e1
Davisson NA, Clark JB, Chin TK, Tunks RD (2018) Trisomy 18 and congenital heart disease: single-center review of outcomes and parental perspectives. World J Pediatr Congenit Heart Surg 9:550–556
Bruns DA (2011) Birth history, physical characteristics, and medical conditions in long-term survivors with full trisomy 13. Am J Med Genet Part A 155:2634–2640
Boghossian NS, Hansen NI, Bell EF et al (2014) Mortality and morbidity of VLBW infants with trisomy 13 or trisomy 18. Pediatrics 133:226–235
Acharya K, Leuthner S, Clark R et al (2017) Major anomalies and birth-weight influence NICU interventions and mortality in infants with trisomy 13 or 18. J Perinatol 37:420–426
Imai K, Uchiyama A, Okamura T et al (2015) Differences in mortality and morbidity according to gestational ages and birth weights in infants with trisomy 18. Am J Med Genet Part A 167:2610–2617
Padley JR, Cole AD, Pye VE et al (2011) Five-year analysis of operative mortality and neonatal outcomes in congenital heart disease. Hear Lung Circ 20:460–467
Domingo L, Carey JC, Eckhauser A et al (2019) Mortality and resource use following cardiac interventions in children with trisomy 13 and trisomy 18 and congenital heart disease. Pediatr Cardiol 40:349–356
Bruns DA, Martinez A (2016) An analysis of cardiac defects and surgical interventions in 84 cases with full trisomy 18. Am J Med Genet Part A 170:337–343
Ma MH, He W, Benavidez OJ (2019) Congenital heart surgical admissions in patients with trisomy 13 and 18: frequency, morbidity, and mortality. Pediatr Cardiol 40:595–601
Neubauer K, Boss RD (2020) Ethical considerations for cardiac surgical interventions in children with trisomy 13 and trisomy 18. Am J Med Genet Part C Semin Med Genet 184:187–191
Karimnejad K, Costa DJ (2015) Otolaryngologic surgery in children with trisomy 18 and 13. Int J Pediatr Otorhinolaryngol 79:1831–1833
Shibuya S, Miyake Y, Takamizawa S et al (2018) Safety and efficacy of noncardiac surgical procedures in the management of patients with trisomy 13: A single institution-based detailed clinical observation. Am J Med Genet Part A 176:1137–1144
Lorenz JM, Hardart GE (2014) Evolving medical and surgical management of infants with trisomy 18. Curr Opin Pediatr 26:169–176
Kobayashi J, Kaneko Y, Yamamoto Y et al (2010) Radical surgery for a ventricular septal defect associated with trisomy 18. Gen Thorac Cardiovasc Surg 58:223–227
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Carvajal, H.G., Callahan, C.P., Miller, J.R. et al. Cardiac Surgery in Trisomy 13 and 18: A Guide to Clinical Decision-Making. Pediatr Cardiol 41, 1319–1333 (2020). https://doi.org/10.1007/s00246-020-02444-6
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DOI: https://doi.org/10.1007/s00246-020-02444-6