Download PDF
Am J Perinatol 2017; 34(09): 887-894
DOI: 10.1055/s-0037-1600912
Original Article
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA

Transitions in Care for Infants with Trisomy 13 or 18

Jacquelyn Patterson
1   Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, North Carolina
,
Genevieve Taylor
1   Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, North Carolina
,
Melissa Smith
1   Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, North Carolina
,
Sarah Dotters-Katz
2   Department of Obstetrics and Gynecology, University of North Carolina School of Medicine, Chapel Hill, North Carolina
,
Arlene M. Davis
3   Department of Social Medicine, University of North Carolina School of Medicine, Chapel Hill, North Carolina
,
Wayne Price
1   Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, North Carolina
› Author Affiliations
Further Information

Publication History

17 November 2016

09 February 2017

Publication Date:
16 March 2017 (online)

    Permissions and Reprints

Abstract

Background and Objectives The scope of interventions offered to infants with trisomy 13 (T13) or trisomy 18 (T18) is increasing. We describe the spectrum of care provided, highlighting transitions in care for individual patients.

Patients and Methods This is a single-center, retrospective cohort of infants with T13 or T18 born between 2004 and 2015. Initial care was classified as comfort care or intervention using prenatal counseling notes. Transitions in care were identified in the medical record.

Results In this study, 25 infants were divided into two groups based on their care: neonates who experienced no transition in care and neonates who experienced at least one transition. Eleven neonates experienced no transition in care with 10 receiving comfort care. Fourteen neonates experienced at least one transition: three transitioned from comfort care to intervention and 11 from intervention to comfort care. The three initially provided comfort care were discharged home with hospice and readmitted. Among the 11 cases who transitioned from intervention to comfort care, 9 transitioned during the birth hospitalization, 6 had no prenatal suspicion for T13 or T18, and 5 experienced elective withdrawal of intensive care.

Conclusion The spectrum of care for infants with T13 or T18 illustrates the need for individualized counseling that is on-going, goal directed, collaborative, and responsive.

Keywords

trisomy 13 - trisomy 18 - palliative care
 

  • References

  • 1 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
    CrossrefPubMedGoogle Scholar
  • 2 Parker SE, Mai CT, Canfield MA. , et al; National Birth Defects Prevention Network. Updated National Birth Prevalence estimates for selected birth defects in the United States, 2004-2006. Birth Defects Res A Clin Mol Teratol 2010; 88 (12) 1008-1016
    CrossrefPubMedGoogle Scholar
  • 3 Lorenz JM, Hardart GE. Evolving medical and surgical management of infants with trisomy 18. Curr Opin Pediatr 2014; 26 (02) 169-176
    CrossrefPubMedGoogle Scholar
  • 4 Costello JP, Weiderhold A, Louis C. , et al. A contemporary, single-institutional experience of surgical versus expectant management of congenital heart disease in trisomy 13 and 18 patients. Pediatr Cardiol 2015; 36 (05) 987-992
    CrossrefPubMedGoogle Scholar
  • 5 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 (11) 2641-2646
    PubMedGoogle Scholar
  • 6 Muneuchi J, Yamamoto J, Takahashi Y. , et al. Outcomes of cardiac surgery in trisomy 18 patients. Cardiol Young 2011; 21 (02) 209-215
    CrossrefPubMedGoogle Scholar
  • 7 Kaneko Y, Kobayashi J, Achiwa I. , et al. Cardiac surgery in patients with trisomy 18. Pediatr Cardiol 2009; 30 (06) 729-734
    CrossrefPubMedGoogle Scholar
  • 8 Kaneko Y, Kobayashi J, Yamamoto Y. , et al. Intensive cardiac management in patients with trisomy 13 or trisomy 18. Am J Med Genet A 2008; 146A (11) 1372-1380
    Google Scholar
  • 9 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 (03) 191-198
    CrossrefPubMedGoogle Scholar
  • 10 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
    CrossrefPubMedGoogle Scholar
  • 11 Lantos JD. Trisomy 13 and 18–treatment decisions in a stable gray zone. JAMA 2016; 316 (04) 396-398
    Google Scholar
  • 12 Nelson KE, Rosella LC, Mahant S, Guttmann A. Survival and surgical interventions for children with trisomy 13 and 18. JAMA 2016; 316 (04) 420-428
    CrossrefPubMedGoogle Scholar
  • 13 Dereddy NR, Pivnick EK, Upadhyay K, Dhanireddy R, Talati AJ. Neonatal hospital course and outcomes of live-born infants with trisomy 18 at two tertiary care centers in the United States. Am J Perinatol 2017; 34 (03) 270-275
    Article in Thieme ConnectPubMedGoogle Scholar
  • 14 Josephsen JB, Armbrecht ES, Braddock SR, Cibulskis CC. Procedures in the 1st year of life for children with trisomy 13 and trisomy 18, a 25-year, single-center review. Am J Med Genet C Semin Med Genet 2016; 172 (03) 264-271
    CrossrefPubMedGoogle Scholar
  • 15 Russo FM, Pozzi E, Verderio M. , et al. Parental counseling in trisomy 18: novel insights in prenatal features and postnatal survival. Am J Med Genet A 2016; 170A (02) 329-336
    PubMedGoogle Scholar
  • 16 Yates AR, Hoffman TM, Shepherd E, Boettner B, McBride KL. Pediatric sub-specialist controversies in the treatment of congenital heart disease in trisomy 13 or 18. J Genet Couns 2011; 20 (05) 495-509
    CrossrefPubMedGoogle Scholar
  • 17 Janvier A, Watkins A. Medical interventions for children with trisomy 13 and trisomy 18: what is the value of a short disabled life?. Acta Paediatr 2013; 102 (12) 1112-1117
    Google Scholar
  • 18 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
    Google Scholar
  • 19 Merritt TA, Catlin A, Wool C, Peverini R, Goldstein M, Oshiro B. Trisomy 18 and trisomy 13. Neoreviews 2012; 13 (01) e40-e48
    CrossrefPubMedGoogle Scholar
  • 20 Janvier A, Farlow B, Barrington KJ. Parental hopes, interventions, and survival of neonates with trisomy 13 and trisomy 18. Am J Med Genet C Semin Med Genet 2016; 172 (03) 279-287
    Google Scholar
  • 21 Moody K, Siegel L, Scharbach K, Cunningham L, Cantor RM. Pediatric palliative care. Prim Care 2011; 38 (02) 327-361 , ix
    CrossrefPubMedGoogle Scholar
  • 22 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
    Article in Thieme ConnectPubMedGoogle Scholar
  • 23 Nelson KE, Hexem KR, Feudtner C. Inpatient hospital care of children with trisomy 13 and trisomy 18 in the United States. Pediatrics 2012; 129 (05) 869-876
    Google Scholar
  • 24 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 (04) 838-846
    PubMedGoogle Scholar
  • 25 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; 164A (02) 308-318
    CrossrefPubMedGoogle Scholar
  • 26 Janvier A, Farlow B, Wilfond BS. The experience of families with children with trisomy 13 and 18 in social networks. Pediatrics 2012; 130 (02) 293-298
    Google Scholar