Überleben, medizinische Betreuung und Lebensqualität von Kindern mit Trisomie 13 und 18

Zusammenfassung

Hintergrund: Kinder mit Trisomie 13 (T13) und Trisomie 18 (T18) sterben in der Regel früh, die Beratung ihrer Eltern erfordert möglichst detaillierte Informationen zu Lebenserwartung und Lebensqualität.

Methode: Retrospektive Analyse der an der Kinderklinik der Freien Universität Berlin (1980–1995) bzw. der Charité (1995–2010) behandelten Neugeborenen mit zytogenetisch diagnostizierter T13-oder T18. Mütter von T13-oder T18-Kindern, die mindestens 3 Monate gelebt hatten, wurden gebeten, Fragebögen zur psychomotorischen Entwicklung und Lebensqualität ihrer Kinder auszufüllen und die erfahrene medizinische Betreuung in einem Interview darzustellen.

Ergebnisse: Bei 18 Kindern mit T13 und 18 Kindern mit T18 betrug die mittlere Überlebenszeit 5 Tage (T13) bzw.19 Tage (T18), bei 2 bzw. 3 T13/T18-Kindern fehlten die Angaben. Ein T13 und 2 T18-Kinder lebten länger als ein Jahr. Von den Müttern der 5 Kinder, die mindestens 3 Monate alt geworden waren (3x T13, 2x T18), schilderten 4 ihre Kinder als freundlich und ausgeglichen. Diese Mütter berichteten über Entwicklungsfortschritte und bejahten aktiv die zahlreichen stationären und ambulanten medizinischen Maßnahmen. Bedauert wurde das Fehlen einer zentralen ärztlichen Führung und einer aktiv angebotenen psychologischen Betreuung.

Schlussfolgerung: Mehr als ein Zehntel der Kinder mit T13 oder T18 leben mehr als 3 Monate, ihre Lebensqualität wird von den Müttern überwiegend positiv bewertet.

Abstract

Background: While infants with trisomy 13 (T13) and trisomy 18 (T18) are known to die early, parents want to know more about life expectancy and quality of life.

Methods: 30-year single-center retrospective chart analysis (1980–2010) of cytogenetically confirmed T13 and T18 cases. Mothers of infants who had lived 3 months or longer were approached to judge their infant’s quality of life and talk about their experiences with medical staff.

Results: Data of 18/20 T13 infants and 18/21 T18 infants could be retrieved. Median survival times were 5 d for T13 and 19 d for T18. One T13 and 2T18 children survived past 1 year. Out of 5 mothers whose infants had survived at least 3 months, 4 described their infant as friendly, happy and peaceful. They observed some degree of psychomotor development and were in favour of the numerous medical and surgical interventions performed. They wished to have had a doctor coordinating these interventions and missed an active offer for psychological help.

Conclusion: While most infants with T13 or T18 die as neonates, mothers of infants surviving longer periods of time have positive memories about their infants’ quality of life.

Schlüsselwörter

Edwards-Syndrom - Pätau-Syndrom - Beratung - psychomotorische Entwicklung - individuelle medizinische Betreuung

Key words

trisomy 13 - trisomy 18 - median survival - psychomotor development - quality of life

• Literatur

• 1 Barry SC, Walsh CA, Burke AL et al. Natural history of fetal trisomy 13 after prenatal diagnosis. Am J Med Genet A 2015; 167: 147-150
• 2 Baty BJ, Jorde LB, Blackburn BL et al. Natural history of trisomy 18 and trisomy 13: II. Psychomotor development. Am J Med Genet 1994; 49: 189-194
• 3 Boghossian NS, Hansen NI, Bell EF et al. Mortality and morbidity of VLBW infants with trisomy 13 or trisomy 18. Pediatrics 2014; 133: 226-235
• 4 Bos AP, Broers CJ, Hazebroek FW et al. Avoidance of emergency surgery in newborn infants with trisomy 18. Lancet 1992; 339: 913-915
• 5 Brewer CM, Holloway SH, Stone DH et al. Survival in trisomy 13 and trisomy 18 cases ascertained from population based registers. J Med Genet 2002; 39: e54
• 6 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; DOI: 10.1002/ajmg.a.36689.
• 7 Carey JC. Perspectives on the care and management of infants with trisomy 18 and trisomy 13: striving for balance. Curr Opin Pediatr 2012; 24: 672-678
• 8 Carter PE, Pearn JH, Bell J et al. Survival in trisomy 18. Life tables for use in genetic counselling and clinical paediatrics. Clin Genet 1985; 27: 59-61
• 9 Embleton ND, Wyllie JP, Wright MJ et al. Natural history of trisomy 18. Arch Dis Child Fetal Neonatal Ed 1996; 75: F38-F41
• 10 Goldstein H, Nielsen KG. Rates and survival of individuals with trisomy 13 and 18. Data from a 10-year period in Denmark. Clin Genet 1988; 34: 366-372
• 11 Guon J, Wilfond BS, Farlow B et al. Our children are not a diagnosis: the experience of parents who continue their pregnancy after a prenatal diagnosis of trisomy 13 or 18. Am J Med Genet A 2014; 164a: 308-318
• 12 Hsiao CC, Tsao LY, Chen HN et al. Changing clinical presentations and survival pattern in trisomy 18. Pediatr Neonatol 2009; 50: 147-151
• 13 Irving C, Richmond S, Wren C et al. 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: 137-141
• 14 Janvier A, Farlow B, Wilfond BS. The experience of families with children with trisomy 13 and 18 in social networks. Pediatrics 2012; 130: 293-298
• 15 Kosho T. Care of children with trisomy 18 in Japan. Am J Med Genet A 2008; 146a: 1369-1371
• 16 Kosho T, Nakamura T, Kawame H et al. Neonatal management of trisomy 18: clinical details of 24 patients receiving intensive treatment. Am J Med Genet A 2006; 140: 937-944
• 17 Lin HY, Lin SP, Chen YJ et al. Clinical characteristics and survival of trisomy 13 in a medical center in Taiwan, 1985–2004. Pediatr Int 2007; 49: 380-386
• 18 Lin HY, Lin SP, Chen YJ et al. Clinical characteristics and survival of trisomy 18 in a medical center in Taipei, 1988–2004. Am J Med Genet A 2006; 140: 945-951
• 19 Maeda J, Yamagishi H, Furutani Y et al. The impact of cardiac surgery in patients with trisomy 18 and trisomy 13 in Japan. Am J Med Genet A 2011; 155a: 2641-2646
• 20 Morrison LJ, Kierzek G, Diekema DS et al. Part 3: ethics: 2010 American Heart Association Guidelines for Cardiopulmonary Resuscitation and Emergency Cardiovascular Care. Circulation 2010; 122: S665-S675
• 21 Nelson KE, Hexem KR, Feudtner C. Inpatient hospital care of children with trisomy 13 and trisomy 18 in the United States. Pediatrics 2012; 129: 869-876
• 22 Niedrist D, Riegel M, Achermann J et al. Survival with trisomy 18 – data from Switzerland. Am J Med Genet A 2006; 140: 952-959
• 23 Parker SE, Mai CT, Canfield MA et al. Updated National Birth Prevalence estimates for selected birth defects in the United States, 2004–2006. Birth Defects Res A Clin Mol Teratol 2010; 88: 1008-1016
• 24 Rasmussen SA, Wong LY, Yang Q et al. Population-based analyses of mortality in trisomy 13 and trisomy 18. Pediatrics 2003; 111: 777-784
• 25 Root S, Carey JC. Survival in trisomy 18. Am J Med Genet 1994; 49: 170-174
• 26 Thiele P, Berg SF, Farlow B. More than a diagnosis. Acta Paediatr 2013; 102: 1127-1129
• 27 Vendola C, Canfield M, Daiger SP et al. Survival of Texas infants born with trisomies 21, 18, and 13. Am J Med Genet A 2010; 152a: 360-366
• 28 Wu J, Springett A, Morris JK. Survival of trisomy 18 (Edwards syndrome) and trisomy 13 (Patau Syndrome) in England and Wales: 2004–2011. Am J Med Genet A 2013; 161a: 2512-2518
• 29 Wyllie JP, Wright MJ, Burn J et al. Natural history of trisomy 13. Arch Dis Child 1994; 71: 343-345