Fatally flawed? A review and ethical analysis of lethal congenital malformations

BJOG: An International Journal of Obstetrics and Gynaecology

Volumn 119, Issue 11, 2012, Pages 1302-1308

  Wilkinson, D J C ^a,b   Thiele, P ^c   Watkins, A ^d   De Crespigny, L ^b  

^a UNIVERSITY OF ADELAIDE   (Australia)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c MONASH UNIVERSITY   (Australia)

^d MERCY HOSPITAL FOR WOMEN   (Australia)

Author keywords

Ethics; fatal outcome; prenatal diagnosis

Indexed keywords

ACARDIUS; ANENCEPHALUS; ARTICLE; CONGENITAL DIAPHRAGM HERNIA; CONGENITAL HYDROCEPHALUS; CONGENITAL MALFORMATION; CONJOINED TWINS; COUNSELING; ETHICS; EXENCEPHALY; FATALITY; HOLOPROSENCEPHALY; HUMAN; HYDRANENCEPHALY; INIENCEPHALY; KIDNEY AGENESIS; KIDNEY POLYCYSTIC DISEASE; LETHALITY; MECKEL SYNDROME; MENINGOMYELOCELE; MULTICYSTIC DYSPLASTIC KIDNEY; OSTEOGENESIS IMPERFECTA; OUTCOME ASSESSMENT; POTTER SYNDROME; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SIRENOMELIA; THANATOPHORIC DWARFISM; TRIPLOIDY; TRISOMY 13; TRISOMY 18;

EID: 84866388474     PISSN: 14700328     EISSN: 14710528     Source Type: Journal    
DOI: 10.1111/j.1471-0528.2012.03450.x     Document Type: Article

References (81)

1. Hunfeld JAM, Wladimiroff JW, Passchier J, Uniken Venema-van uden M, Frets PG, Verhage F,. Emotional-Reactions in Women in Late Pregnancy (24 Weeks or Longer) Following the Ultrasound Diagnosis of a Severe or Lethal Fetal Malformation. Prenat Diagn 1993; 13: 603-12.
2. Leuthner S, Bolger M, Frommelt M, Nelson R,. The impact of abnormal fetal echocardiography on expectant parents' experience of pregnancy: a pilot study. J Psychosom Obstet Gynecol 2003; 24: 121-9.
3. Senanayake H, De Silva D, Premaratne S, Kulatunge M,. Psychological reactions and coping strategies of Sri Lankan women carrying fetuses with lethal congenital malformations. Ceylon Med J 2009; 51: 14-7.
4. Benute GRG, Nomura RMY, Liao AW, Brizot MdL, de Lucia MCS, Zugaib M,. Feelings of women regarding end-of-life decision making after ultrasound diagnosis of a lethal fetal malformation. Midwifery 2011; [Epub ahead of print] doi:10.1016/j.midw.2011.06.011.
5. Hassed S, Miller C, Pope S, Murphy P, Quirk J Jr, Cunniff C,. Perinatal lethal conditions: the effect of diagnosis on decision making. Obstet Gynecol 1993; 82: 37-42.
6. Lakovschek IC, Streubel B, Ulm B,. Natural outcome of trisomy 13, trisomy 18, and triploidy after prenatal diagnosis. Am J Med Genet A 2011; 155: 2626-33.
7. Schechtman KB, Gray DL, Baty JD, Rothman SM,. Decision-making for termination of pregnancies with fetal anomalies: analysis of 53 000 pregnancies. Obstet Gynecol 2002; 99: 216-22.
8. Chervenak FA, Farley MA, Walters L, Hobbins JC, Mahoney MJ,. When is termination of pregnancy during the third trimester morally justifiable? N Engl J Med 1984; 310: 501-4.
9. Sokol DK,. The slipperiness of futility. BMJ 2009; 338: b2222.
10. The Oxford English Dictionary. 2nd edn. OED Online: Oxford University Press, Oxford 1989.
11. World Health Organization. Basic Newborn Resuscitation: A Practical Guide. [online] World Health Organization, 1998.
12. Catlin A, Carter B,. Creation of a neonatal end-of-life palliative care protocol. J Perinatol 2002; 22: 184-95.
13. Munson D, Leuthner SR,. Palliative care for the family carrying a fetus with a life-limiting diagnosis. Pediatr Clin North Am 2007; 54: 787-98, xii.
14. Walker LV, Miller VJ, Dalton VK,. The health-care experiences of families given the prenatal diagnosis of trisomy 18. J Perinatol 2008; 28: 12-9.
15. Thiele P,. He was my son, not a dying baby. J Med Ethics 2010; 36: 646-7.
16. Courtwright A, Laughon M, Doron M,. Length of life and treatment intensity in infants diagnosed prenatally or postnatally with congenital anomalies considered to be lethal. J Perinatol 2011; 31: 387-91.
17. Czeizel AE,. First 25 years of the Hungarian congenital abnormality registry. Teratology 1997; 55: 299-305.
18. Dommergues M, Mandelbrot L, Mahieu-Caputo D, Boudjema N, Durand-Zaleski I, ICI Group-Club de médecine foetale. Termination of pregnancy following prenatal diagnosis in France: how severe are the foetal anomalies? Prenat Diagn 2010; 30: 531-9.
19. Lewis S, McGillivray G, Rowlands S, Halliday J,. Perinatal outcome following suspected fetal abnormality when managed through a fetal management unit. Prenat Diagn 2010; 30: 149-55.
20. Goldenberg RL, Humphrey JL, Hale CB, Wayne JB,. Lethal congenital anomalies as a cause of birth-weight-specific neonatal mortality. JAMA 1983; 250: 513-5.
21. Milunsky A,. Lethal congenital anomalies. JAMA 1983; 250: 517-8.
22. Young ID, Clarke M,. Lethal malformations and perinatal mortality: a 10 year review with comparison of ethnic differences. BMJ 1987; 295: 89-91.
23. Bhatia J,. Palliative care in the fetus and newborn. J Perinatol 2006; 26 (Suppl 1): S24-6; discussion S31-3.
24. Breeze ACG, Lees CC, Kumar A, Missfelder-Lobos HH, Murdoch EM,. Palliative care for prenatally diagnosed lethal fetal abnormality. Arch Dis Child Fetal Neonatal Ed 2007; 92: F56-8.
25. Chervenak FA, McCullough LB,. An ethically justified, clinically comprehensive management strategy for third-trimester pregnancies complicated by fetal anomalies. Obstet Gynecol 1990; 75: 311-6.
26. Strong C,. Fetal anomalies: ethical and legal considerations in screening, detection, and management. Clin Perinatol 2003; 30: 113-26.
27. 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: 137-41.
28. Wilkinson D,. The self-fulfilling prophecy in intensive care. Theor Med Bioeth 2009; 30: 401-10.
29. Rasmussen SA, Wong L-YC, Yang Q, May KM, Friedman JM,. Population-based analyses of mortality in trisomy 13 and trisomy 18. Pediatrics 2003; 111: 777-84.
30. Brewer CM, Holloway SH, Stone DH, Carothers AD, FitzPatrick DR,. Survival in trisomy 13 and trisomy 18 cases ascertained from population based registers. J Med Genet 2002; 39: e54.
31. Barr M, Cohen MM,. Holoprosencephaly survival and performance. Am J Med Genet A 1999; 89: 116-20.
32. Bruns D,. Birth history, physical characteristics, and medical conditions in long-term survivors with full trisomy 13. Am J Med Genet A 2011; 155: 2634-40.
33. Campbell N,. When care cannot cure: medical problems in seriously ill babies. In:, Kuhse H, Singer P, editors. Bioethics: An Anthology. Oxford: Blackwell, 1999, 243-54.
34. Wilkinson DJC, Savulescu J,. Knowing when to stop: futility in the ICU. Curr Opin Anesthesiol 2011; 24: 160-5.
35. Schneiderman LJ, Jecker NS, Jonsen AR,. Medical futility: its meaning and ethical implications. Ann Intern Med 1990; 112: 949-54.
36. Brody BA, Halevy A,. Is futility a futile concept? J Med Philos 1995; 20: 123-44.
37. Helft PR, Siegler M, Lantos J,. The rise and fall of the futility movement. N Engl J Med 2000; 343: 293-6.
38. Babnik J,. Ethical decisions in the delivery room. Textbook of Perinatal Medicine. London: The Parthenon publishing group Ltd; 1998. 1880-5.
39. Chervenak FA, McCullough LB,. The fetus as a patient: an essential ethical concept for maternal-fetal medicine. J Matern Fetal Med 1996; 5: 115-9.
40. Fenton LJ,. Trisomy 13 and 18 and quality of life: treading softly. Am J Med Genet A 2011; 155A: 1527-8.
41. Yorgason B,. One Tattered Angel: A Touching True Story of the Power of Love. Salt Lake City: Shadow Mountain, 2003.
42. Gabbay E, Calvo-Broce J, Meyer KB, Trikalinos TA, Cohen J, Kent DM,. The empirical basis for determinations of medical futility. J Gen Intern Med 2010; 25: 1083-9.
43. Farlow B,. Misgivings. Hastings Cent Rep 2009; 39: 19-21.
44. Koogler TK, Wilfond BS, Ross LF,. Lethal language, lethal decisions. Hastings Cent Rep 2003; 33: 37-41.
45. McCaffrey MJ,. Lethality begets lethality. J Perinatol 2011; 31: 630-1; author reply 1-2.
46. Caplan A,. Neutrality is not morality: the ethics of genetic counselling. In:, Bartels D, LeRoy B, Caplan A, editors. Prescribing Our Future: Ethical Challenges in Genetic Counselling. Hawthorne, NY: Aldine De Gruyter; 1993. pp. 149-65.
47. Elwyn G, Gray J, Clarke A,. Shared decision making and non-directiveness in genetic counselling. J Med Genet 2000; 37: 135-8.
48. Resta RG,. Eugenics and nondirectiveness in genetic counseling. J Genet Couns 1997; 6: 255-8.
49. Rentmeester CA,. Value neutrality in genetic counseling: an unattained ideal. Med Health Care Philos 2001; 4: 47-51.
50. Williams C, Alderson P, Farsides B,. Is nondirectiveness possible within the context of antenatal screening and testing?. Soc Sci Med 2002; Feb;54: 339-47.
51. Bernhardt BA,. Empirical evidence that genetic counseling is directive: where do we go from here? Am J Hum Genet 1997; 60: 17-20.
52. de Crespigny L,. Words matter: nomenclature and communication in perinatal medicine. Clin Perinatol 2003; 30: 17-25.
53. McCormick RA,. To save or let die. The dilemma of modern medicine. JAMA 1974; 229: 172-6.
54. Spinnato JA, Cook VD, Cook CR, Voss DH,. Aggressive intrapartum management of lethal fetal anomalies: beyond fetal beneficence. Obstet Gynecol 1995; 85: 89-92.
55. Janvier A, Okah F, Farlow B, Lantos JD,. An infant with trisomy 18 and a ventricular septal defect. Pediatrics 2011; 127: 754-9.
56. Leuthner SR,. Palliative care of the infant with lethal anomalies. Pediatr Clin North Am 2004; 51: 747-59, xi.
57. Sanders RC,. Prenatal ultrasonic detection of anomalies with a lethal or disastrous outcome. Radiol Clin North Am 1990; 28: 163-77.
58. Davidson N, Halliday J, Riley M, King J,. Influence of prenatal diagnosis and pregnancy termination of fetuses with birth defects on the perinatal mortality rate in Victoria, Australia. Paediatr Perinat Epidemiol 2005; 19: 50-5.
59. Cunniff C, Kirby RS, Senner JW, Canino C, Brewster MA, Butler B, et al., Deaths associated with renal agenesis: a population-based study of birth prevalence, case ascertainment, and etiologic heterogeneity. Teratology 1994; 50: 200-4.
60. Parker SE, Mai CT, Canfield MA, Rickard R, Wang Y, Meyer RE, 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: 1008-16.
61. Jaquier M, Klein A, Boltshauser E,. Spontaneous pregnancy outcome after prenatal diagnosis of anencephaly. BJOG 2006; 113: 951-3.
62. Kalucy M, Bower C, Stanley F, Burton P,. Survival of infants with neural tube defects in Western Australia 1966-1990. Paediatr Perinat Epidemiol 1994; 8: 334-51.
63. Obeidi N, Russell N, Higgins JR, O'Donoghue K,. The natural history of anencephaly. Prenat Diagn 2010; 30: 357-60.
64. Baird PA, Sadovnick AD,. Survival in infants with anencephaly. Clin Pediatr 1984; 23: 268-71.
65. McAbee G, Sherman J, Canas J, Boxer H,. Prolonged survival of two anencephalic infants. Am J Perinatol 1993; 10: 175-7.
66. Stoll C, Dott B, Roth MP, Alembik Y,. Birth prevalence rates of skeletal dysplasias. Clin Genet 1989; 35: 88-92.
67. MacDonald IM, Hunter AG, MacLeod PM, MacMurray SB,. Growth and development in thanatophoric dysplasia. Am J Med Genet A 1989; 33: 508-12.
68. Baker KM, Olson DS, Harding CO, Pauli RM,. Long-term survival in typical thanatophoric dysplasia type 1. Am J Med Genet A 1997; 70: 427-36.
69. Vendola C, Canfield M, Daiger SP, Gambello M, Hashmi SS, King T, et al., Survival of Texas infants born with trisomies 21, 18, and 13. Am J Med Genet A 2010; 152A: 360-6.
70. Lebel RR, Roberson J, Van Dyke DL,. Regarding trisomy 18. Am J Med Genet A 2006; 140: 964-5.
71. Bhanumathi B, Goyel N, Mishra Z,. Trisomy 18 in a 50-year-old female. Indian J Hum Genet 2006; 12: 146.
72. Redheendran R, Neu RL, Bannerman RM,. Long survival in trisomy-13-syndrome: 21 cases including prolonged survival in two patients 11 and 19 years old. Am J Med Genet A 1981; 8: 167-72.
73. Tunca Y, Kadandale J, Pivnick E,. Long-term survival in Patau syndrome. Clin Dysmorphol 2001; 10: 149.
74. Szabó N, Gergev G, Kóbor J, Szucs P, Túri S, Sztriha L,. Holoprosencephaly in Hungary: birth prevalence and clinical spectrum. J Child Neurol 2011; 26: 1029-32.
75. Veneselli E, Biancheri R, Di Rocco M, Fondelli MP, Perrone MV, Donati PT,. Unusually prolonged survival and childhood-onset epilepsy in a case of alobar holoprosencephaly. Childs Nerv Syst 1999; 15: 274-7.
76. Stashinko EE, Clegg NJ, Kammann HA, Sweet VT, Delgado MR, Hahn JS, et al., A retrospective survey of perinatal risk factors of 104 living children with holoprosencephaly. Am J Med Genet A 2004; 128A: 114-9.
77. Yilmaz Z, Sahin F, Tarim E, Kuscu E,. Triploidies in First and Second Trimesters of Pregnancies in Turkey. Balkan J Med Genet 2007; 10: 71-6.
78. Takabachi N, Nishimaki S, Omae M, Okuda M, Fujita S, Ishida F, et al., Long-term survival in a 69, XXX triploid premature infant. Am J Med Genet A 2008; 146A: 1618-21.
79. Bianchi DW, Bianchi DWF,. Fetology: Diagnosis and Management of the Fetal Patient, 2nd edn. New York: McGraw-Hill Medical, London: McGraw-Hill [distributor], 2010.
80. Bae J, Jang M, Park S,. Prolonged survival to adulthood of an individual with hydranencephaly. Clin Neurol Neurosurg 2008; 110: 307-9.
81. Merker B,. Life expectancy in hydranencephaly. Clin Neurol Neurosurg 2008; 110: 213-4.