Prenatal and Postnatal Follow-up in Trisomies 13 and 18: A 20-Year Experience in a Tertiary Center

Abstract

Objective Trisomies 13 and 18 are among the most common autosomal aneuploidies associated with high mortality rates. Conventional management strategies offer to limit interventional support; however, some of the recent studies suggest that intervention does make a difference in terms of survival.

Study Design A retrospective cohort study was performed between January 1996 and January 2016, covering all cases with such trisomies. A total of 69 cases were reviewed for clinical aspects, outcome, and management strategies.

Results In almost all pregnancies with follow-up, at least one indication present for invasive testing (54/55). Invasive testing was not performed in 18.5% of such cases. All parents opted for termination in cases with prenatal diagnosis. None of the liveborns had prenatal diagnoses, thus, neonatal resuscitation and intensive care unit admission were not withheld in such infants. Major intervention was done in only one patient with full trisomy 13. Median survival for infants with full trisomies 13 and 18 was 36 and 60 days, respectively. Almost half the patients died within 1 month.

Conclusion To which extent the major interventions should be withheld is an issue of debate in managing such infants; however, current approaches are subject to change, given the technological advances.

Keywords

trisomy 13 - trisomy 18 - prenatal counseling - intervention - outcome

• References

• 1 Carey JC. Perspectives on the care and management of infants with trisomy 18 and trisomy 13: striving for balance. Curr Opin Pediatr 2012; 24 (06) 672-678
• 2 Cereda A, Carey JC. The trisomy 18 syndrome. Orphanet J Rare Dis 2012; 7: 81
• 3 Crider KS, Olney RS, Cragan JD. Trisomies 13 and 18: population prevalences, characteristics, and prenatal diagnosis, metropolitan Atlanta, 1994-2003. Am J Med Genet A 2008; 146A [phone]
• 4 Dotters-Katz SK, Carlson LM, Johnson J. , et al. Management of pregnancy and survival of infants with trisomy 13 or trisomy 18. Am J Perinatol 2016; 33 (12) 1121-1127
• 5 Irving C, Richmond S, Wren C, Longster C, Embleton ND. Changes in fetal prevalence and outcome for trisomies 13 and 18: a population-based study over 23 years. J Matern Fetal Neonatal Med 2011; 24 (01) 137-141
• 6 Imai K, Uchiyama A, Okamura T. , et al. Differences in mortality and morbidity according to gestational ages and birth weights in infants with trisomy 18. Am J Med Genet A 2015; 167A (11) 2610-2617
• 7 Imataka G, Suzumura H, Arisaka O. Clinical features and survival in individuals with trisomy 18: a retrospective one-center study of 44 patients who received intensive care treatments. Mol Med Rep 2016; 13 (03) 2457-2466
• 8 Kosho T, Carey JC. Does medical intervention affect outcome in infants with trisomy 18 or trisomy 13?. Am J Med Genet A 2016; 170A [phone]
• 9 Carey JC, Kosho T. Perspectives on the care and advances in the management of children with trisomy 13 and 18. Am J Med Genet C Semin Med Genet 2016; 172 (03) 249-250
• 10 Khoshnood B, De Vigan C, Vodovar V, Goujard J, Goffinet F. A population-based evaluation of the impact of antenatal screening for Down's syndrome in France, 1981-2000. BJOG 2004; 111 (05) 485-490
• 11 Loane M, Morris JK, Addor MC. , et al. Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening. Eur J Hum Genet 2013; 21 (01) 27-33
• 12 Morris JK, Alberman E. Trends in Down's syndrome live births and antenatal diagnoses in England and Wales from 1989 to 2008: analysis of data from the National Down Syndrome Cytogenetic Register. BMJ 2009; 339: b3794
• 13 Tonks AM, Gornall AS, Larkins SA, Gardosi JO. Trisomies 18 and 13: trends in prevalence and prenatal diagnosis - population based study. Prenat Diagn 2013; 33 (08) 742-750
• 14 Haug S, Goldstein M, Cummins D, Fayard E, Merritt TA. Using patient-centered care after a prenatal diagnosis of trisomy 18 or trisomy 13: a review. JAMA Pediatr 2017; 171 (04) 382-387
• 15 Calda P, Sípek A, Gregor V. Gradual implementation of first trimester screening in a population with a prior screening strategy: population based cohort study. Acta Obstet Gynecol Scand 2010; 89 (08) 1029-1033
• 16 Embleton ND, Wyllie JP, Wright MJ, Burn J, Hunter S. Natural history of trisomy 18. Arch Dis Child Fetal Neonatal Ed 1996; 75 (01) F38-F41
• 17 Subramaniam A, Jacobs AP, Tang Y. , et al. Trisomy 18: a single-center evaluation of management trends and experience with aggressive obstetric or neonatal intervention. Am J Med Genet A 2016; 170A [phone]
• 18 Kosho T, Nakamura T, Kawame H, Baba A, Tamura M, Fukushima Y. Neonatal management of trisomy 18: clinical details of 24 patients receiving intensive treatment. Am J Med Genet A 2006; 140 (09) 937-944
• 19 Rosa RF, Rosa RC, Lorenzen MB. , et al. Trisomy 18: frequency, types, and prognosis of congenital heart defects in a Brazilian cohort. Am J Med Genet A 2012; 158A [phone]
• 20 Kaneko Y, Kobayashi J, Achiwa I. , et al. Cardiac surgery in patients with trisomy 18. Pediatr Cardiol 2009; 30 (06) 729-734
• 21 Kobayashi J, Kaneko Y, Yamamoto Y, Yoda H, Tsuchiya K. Radical surgery for a ventricular septal defect associated with trisomy 18. Gen Thorac Cardiovasc Surg 2010; 58 (05) 223-227
• 22 Takahashi K, Sasaki A, Wada S. , et al. The outcomes of 31 cases of trisomy 13 diagnosed in utero with various management options. Am J Med Genet A 2017; 173 (04) 966-971
• 23 Bruns DA, Campbell E. Nine children over the age of one year with full trisomy 13: a case series describing medical conditions. Am J Med Genet A 2014; 164A (12) 2987-2995
• 24 Rasmussen SA, Wong LY, Yang Q, May KM, Friedman JM. Population-based analyses of mortality in trisomy 13 and trisomy 18. Pediatrics 2003; 111 (4 Pt 1): 777-784
• 25 Bos AP, Broers CJ, Hazebroek FW. , et al. Avoidance of emergency surgery in newborn infants with trisomy 18. Lancet 1992; 339 (8798): 913-915
• 26 Van Dyke DC, Allen M. Clinical management considerations in long-term survivors with trisomy 18. Pediatrics 1990; 85 (05) 753-759
• 27 Ishitsuka K, Matsui H, Michihata N, Fushimi K, Nakamura T, Yasunaga H. Medical procedures and outcomes of Japanese patients with trisomy 18 or trisomy 13: analysis of a nationwide administrative database of hospitalized patients. Am J Med Genet A 2015; 167A [phone]
• 28 Acharya K, Leuthner S, Clark R, Nghiem-Rao TH, Spitzer A, Lagatta J. Major anomalies and birth-weight influence NICU interventions and mortality in infants with trisomy 13 or 18. J Perinatol 2017; 37 (04) 420-426
• 29 Andrews SE, Downey AG, Showalter DS. , et al. Shared decision making and the pathways approach in the prenatal and postnatal management of the trisomy 13 and trisomy 18 syndromes. Am J Med Genet C Semin Med Genet 2016; 172 (03) 257-263