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Prenatal counseling and parental decision-making following a fetal diagnosis of trisomy 13 or 18

Journal of Perinatology volume 38, pages 788–796 (2018)Cite this article

Subjects

Abstract

Objectives

To evaluate parental decisions following a prenatal diagnosis of trisomy 13 (T13) or trisomy 18 (T18), prenatal counseling received, and pregnancy outcomes.

Study design

Single-center, retrospective cohort study of families with a prenatal diagnosis of T13 or T18 from 2000 to 2016.

Results

Out of 152 pregnancies, 55% were terminated. Twenty percent chose induction with palliative care, 20% chose expectant management, 2% chose full interventions, and 3% were lost to follow-up. Counseling was based on initial parental goals, but most women were given options besides termination. Women who chose expectant management had a live birth in 50% of the cases. Women who chose neonatal interventions had a live birth in 100% of the cases, but there were no long-term survivors.

Conclusions

The majority of women who continue their pregnancy after a fetal diagnosis of T13 or T18 desire expectant management with palliative care. A live birth can be expected at least half of the time.

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References

  1. Edwards JH, Harnden DG, Cameron AH, Crosse VM, Wolff OH. A new trisomic syndrome. Lancet. 1960;1:787–90.

    Article  CAS  Google Scholar 

  2. Carter PE, Pearn JH, Bell J, Martin N, Anderson NG. Survival in trisomy 18. Life tables for use in genetic counselling and clinical paediatrics. Clin Genet. 1985;27:59–61.

    Article  CAS  Google Scholar 

  3. Wilkinson D, De Crespigny L, Xafis V. Ethical language and decision-making for prenatally diagnosed lethal malformations. Semin Fetal Neonatal Med. 2014;19:306–11.

    Article  Google Scholar 

  4. Thiele P, Berg SF, Farlow B. More than a diagnosis. Acta Paediatr. 2013;102:127–32.

    Article  Google Scholar 

  5. Janvier A, Farlow B, Wilfond BS. The experience of families with children with trisomy 13 and 18 in social networks. Pediatrics. 2012;130:293–8.

    Article  Google Scholar 

  6. Acharya K, Leuthner S, Clark R, Nghiem-Rao T, Spitzer A, Lagatta J. Major anomalies and birth-weight influence NICU interventions and mortality in infants with trisomy 13 or 18. J Perinatol. 2017;37:420–6.

    Article  CAS  Google Scholar 

  7. Graham EM, Bradley SM, Shirali GS, Hills CB, Atz AM, Pediatric Cardiac Care Consortium. Effectiveness of cardiac surgery in trisomies 13 and 18 (from the Pediatric Cardiac Care Consortium). Am J Cardiol. 2004;93:801–3.

    Article  Google Scholar 

  8. 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 Part A. 2015;167:1816–21.

    Article  CAS  Google Scholar 

  9. Janvier A, Watkins A. Medical interventions for children with trisomy 13 and 18: what is the value of a short disabled life? Acta Paediatr. 2013;102:1112–7.

    Article  Google Scholar 

  10. Kaneko Y, Kobayashi J, Yamamoto Y, Yoda H, Kanetaka Y, Nakajima Y, et al. Intensive cardiac management in patients with trisomy 13 or trisomy 18. Am J Med Genet A. 2008;146A:1372–80.

    Article  Google Scholar 

  11. 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;140:937–44.

    Article  Google Scholar 

  12. Lin HY, Lin SP, Chen YJ, Hsu CH, Kao HA, Chen MR, et al. Clinical characteristics and survival of trisomy 13 in a medical center in Taiwan, 1985-2004. Pediatr Int. 2007;49:380–6.

    Article  Google Scholar 

  13. Maeda J, Yamagishi H, Furutani Y, Kamisago M, Waragai T, Oana S, et al. The impact of cardiac surgery in patients with trisomy 18 and trisomy 13 in Japan. Am J Med Genet A. 2011;155A:2641–6.

    Article  Google Scholar 

  14. Nelson KE, Hexem KR, Feudtner C. Inpatient hospital care of children with trisomy 13 and trisomy 18 in the United States. Pediatrics. 2012;129:869–76.

    Article  Google Scholar 

  15. Sibiude J, Gavard L, Floch-Tudal C, Mandelbrot L. Perinatal care and outcome of fetuses with trisomies 13 and 18 following a parental decision not to terminate the pregnancy. Fetal Diagn Ther. 2011;29:233–7.

    Article  Google Scholar 

  16. Houlihan OA, O'Donoghue K. The natural history of pregnancies with a diagnosis of trisomy 18 or trisomy 13; a retrospective case series. BMC Pregnancy Childbirth. 2013;13:209

    Article  Google Scholar 

  17. Lakovschek IC, Streubel B, Ulm B. Natural outcome of trisomy 13, trisomy 18, and triploidy after prenatal diagnosis. Am J Med Genet A. 2011;155A:2626–33.

    Article  Google Scholar 

  18. Marttala J, Peuhkurinen S, Ranta JK, Laitinen P, Kokkonen HL, Honkasalo T, et al. Screening and outcome of chromosomal abnormalities other than trisomy 21 in Northern Finland. Acta Obstet Gynecol Scand. 2011;90:885–9.

    Article  Google Scholar 

  19. Barry SC, Walsh CA, Burke AL, McParland P, McAuliffe FM, Morrison JJ. Natural history of fetal trisomy 13 after prenatal diagnosis. Am J Med Genet Part A. 2015;167:147–50.

    Article  Google Scholar 

  20. Guon J, Wilfond BS, Farlow B, Brazg T, Janvier A. 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;164:308–18.

    Article  Google Scholar 

  21. Bruns D, Campbell E. Twenty‐two survivors over the age of 1 year with full trisomy 18: presenting and current medical conditions. Am J Med Genet Part A. 2014;164:610–9.

    Article  Google Scholar 

  22. Bruns D. Erring on the side of life: children with rare trisomy conditions, medical interventions and quality of life. J Genet Disor Genet Rep. 2013;2:1–5.

  23. Tsukada K, Imataka G, Suzumura H, Arisaka O. Better prognosis in newborns with trisomy 13 who received intensive treatments: a retrospective study of 16 patients. Cell Biochem Biophys. 2012;63:191–8.

    Article  CAS  Google Scholar 

  24. Wilkinson DJ. Antenatal diagnosis of trisomy 18, harm and parental choice. J Med Ethics. 2010;36:644–5.

    Article  Google Scholar 

  25. Koogler TK, Wilfond BS, Ross LF. Lethal language, lethal decisions. Hastings Cent Rep. 2003;33:37–41.

    Article  Google Scholar 

  26. Wisconsin statutes: maternal and child health, chapter 253. 2017. https://docs.legis.wisconsin.gov/statutes/statutes/253/107.

  27. Parker M, Budd J, Draper E, Young I. Trisomy 13 and trisomy 18 in a defined population: epidemiological, genetic and prenatal observations. Prenat Diagn. 2003;23:856–60.

    Article  CAS  Google Scholar 

  28. Verp MS, Bombard AT, Simpson JL, Elias S, Reynolds JF, Hall JG. Parental decision following prenatal diagnosis of fetal chromosome abnormality. Am J Med Genet Part A. 1988;29:613–22.

    Article  CAS  Google Scholar 

  29. Patterson J, Taylor G, Smith M, Dotters-Katz S, Davis AM, Price W. Transitions in care for infants with trisomy 13 or 18. Am J Perinatol. 2017;34:887–94.

  30. Carey JC. Perspectives on the care and management of infants with trisomy 18 and trisomy 13: striving for balance. Curr Opin Pediatr. 2012;24:672–8.

    Article  Google Scholar 

  31. Wilkinson D, Crespigny L, Lees C, Savulescu J, Thiele P, Tran T, et al. Perinatal management of trisomy 18: a survey of obstetricians in Australia, New Zealand and the UK. Prenat Diagn. 2014;34:42–9.

    Article  CAS  Google Scholar 

  32. Hsiao CC, Tsao LY, Chen HN, Chiu HY, Chang WC. Changing clinical presentations and survival pattern in trisomy 18. Pediatr Neonatol. 2009;50:147–51.

    Article  Google Scholar 

  33. Kosiv KA, Gossett JM, Bai S, Collins RT II. Congenital heart surgery on in-hospital mortality in trisomy 13 and 18. Pediatrics. 2017;140. 10.1542/peds.2017-0772, Epub 2017 Oct 18.

    Article  Google Scholar 

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Authors and Affiliations

  1. Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA

    Phoebe Winn, Krishna Acharya & Steven Leuthner

  2. Department of Obstetrics and Gynecology, Medical College of Wisconsin, Milwaukee, WI, USA

    Erika Peterson

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  1. Phoebe Winn
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  2. Krishna Acharya
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  3. Erika Peterson
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  4. Steven Leuthner
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Correspondence to Steven Leuthner.

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The authors declare that they have no conflict of interest.

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Winn, P., Acharya, K., Peterson, E. et al. Prenatal counseling and parental decision-making following a fetal diagnosis of trisomy 13 or 18. J Perinatol 38, 788–796 (2018). https://doi.org/10.1038/s41372-018-0107-x

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