Literature – Care and Management

Professional Literature:   Care Management and Social Issues

In addition to the information listed here, some useful  books are available from the SOFT publications page:  Trisomy 18: A Handbook for Families and Trisomy 13: A Handbook for Families.  These touch on legal and educational aspects as well as the diagnosis itself.   Also available there is Care of the Infant and Child with Trisomy 18 or Trisomy 13 which provides a great deal of care information for families.  These are available in both English and Spanish.

♦  Pyle, A.K., et al, 2018  Management Options and Parental Voice in the Treatment of trisomy 13 and 18  Journal of Perinatology    A summary of current data and an ethical analysis of whether medical and surgical interventions should be offered to parents of newborns with trisomy 13 or 18.

♦  Stanford Medicine News Center, 2017  Infants with the genetic disorders trisomy 13 or 18 are more likely to survive if they undergo heart surgery, a study from researchers at Stanford and the University of Arkansas has found.

♦  Kosho T, et al, 2016. Does medical intervention affect outcome in infants with trisomy 18 or trisomy 13? Am J Med Genet Part A 9999A:847849.

♦  Satge D, et al, 2016  A Tumor Profile in Edwards Syndrome (trisomy 18)   Am J Med Genet Part C Semin Med Genet 172C:296–306.

♦  Satgé D, et al,  2017  A Tumor Profile in Patau Syndrome (trisomy 13) Am J Med Genet A. 2017 Aug; 173(8):2088-2096. doi: 10.1002/ajmg.a.38294. Epub 2017 May 25

♦  Acharya, K et al 2017 Major anomalies and birth-weight influence NICU interventions and mortality in infants with trisomy 13 or 18.   J Perinatol. 2017 Jan 12. doi: 10.1038/jp.2016.245. [Epub ahead of print]

♦  Video, McCaffrey, 2016:   EVERY CASE IS UNIQUE: Delivering optimal medical care to babies born with Trisomy 13 and Trisomy 18.  Dr. Martin McCaffrey speaking at the Perinatal Conference in Dublin, 2016

Carey JC, et al 2016  Commentary on Perspectives on the Care and Advances in the Management of Children with Trisomy 13 and 18 American Journal of Medical Genetics, Part C, Seminars in Medical Genetics, September 15, 2016 (whole issue)

♦ Bruns, DA, 2016  The TRIS Project:  Tracking Rare Incidence Symdromes.  An on-going project managed by D.A. Bruns, PhD, at Southern Illinois University.  A number of care, family experience and support articles are listed on this link.   A link to updated information is here.

Fukasawa, T. et al.  2015  Apneas observed in trisomy 18 neonates should be differentiated from epiliptic apneas.  Fukasawa T, et al. Am J Med Genet A. 2015.

♦ Tsukada, et al  2015  Better Prognosis in Newborns with Trisomy 13 Who Received Intensive Treatments: A Retrospective Study of 16 Patients .  Cell Biochem Biophys. 2012 Jul; 63(3): 191–198.  Published online 2012 Apr 10. doi:  10.1007/s12013-012-9355-0

♦ Picoraro, JA, et al 2014  Posttraumatic Growth in Parents and Pediatric Patients J Palliat Med 2014 Feb; 17(2):209-18

♦ Wilkinson, DJ et al,
 2014  Perinatal management of trisomy 18: a survey of obstetricians in Australia, New Zealand and the UK,   Wiley OnLine Library, Volume 34,  Issue 1, pages 42–49, January 2014

Kosho, et al 2013  Natural History and Parental Experience of Children with Trisomy 18 Based on a Questionnaire Given to a Japanese Trisomy 18 Parental Support Group,  Am Jrnl Medical Genetics, March 2013

♦ Lorenz, et al, 2013 Evolving Medical and Surgical Management of Infants with Trisomy 18

♦ Wu, et al 2013 Survival Rates, Times Noted for Live Births With Trisomy 13 and 18  It is suggested that detailed and accurate information about the survival of children with trisomies 13 and 18 should be provided to parents, genetic counselors, and health professionals caring for affected families.

♦ Kosho, T  et al   2013  Natural history and parental experience of children with trisomy 18 …    Natural history and parental experience of children with trisomy 18 based on a questionnaire given to a Japanese Parental Support Group.

♦ Braddock BA et al 2013 informa healthcare   Reported communication ability of persons with trisomy 18 and trisomy 13   Posted online on November 1, 2013.  (doi:10.3109/17518423.2013.847980)

♦ Carey JC 2012. Perspectives on the care and management of infants with trisomy 18 and trisomy 13: striving for balance  (abstract)  Curr Opin Pediatr 2012, 24:000 – 000

♦ Felton LJ 2011.  Trisomy 13 and 18 and Quality of Life: Treading ‘‘Softly’’  Am J Med Genet Part A 155:1527–1528.

♦ Merritt TA et al 2012. Trisomy 18 and Trisomy 13: Treatment and Management Decisions (abstract) NeoReviews Vol. 13 No. 1 January 1, 2012 pp. e40 -e48 (doi: 10.1542/neo.13-1-e40) Am Academy of Pediatrics

♦ Elias ER, Murphy NA and Council on Children with Disabilities. 2012 Home Care of Children and Youth With Complex Health Care Needs and Technology Dependencies. Clinical Report AAP.  Pediatrics. 2012;129(5): 996-1005

♦ Janvier A et al 2012. The Experience of Families With Children With Trisomy 13 and 18 in Social Networks    Am Academy of Pediatrics, doi:10.1542/peds.2012-0151

♦ Bruns D et al 2012.  Examining In-Home Care Needs and Work Responsibilities for Parents with Children with a Rare Trisomy Condition  int. j. of developmental disabilities, Vol. 58 No. 3, November, 2012, 159–175

♦ Tsukada K et al   2012.  Better Prognosis in Newborns with Trisomy 13 Who Received Intensive Treatments: A Retrospective Study of 16 Patients  Cell Biochem Biophys. 2012 July; 63(3): 191–198.

♦ Nelson KE et al 2012.  Inpatient hospital care of children with trisomy 13 and trisomy 18 in the United States. Pediatrics 2012, 129:869–876.

♦ Derrington SF, Dworetz AR 2012.  Confronting ambiguity: identifying options for infants with trisomy 18.J Clin Ethics. 2011 Winter;22(4):338-44; author reply 358-62.  abstract

♦ Bruns D, Foerster K 2011. We’ve been through it all together’: Support for parents with children with rare trisomy conditions. Journal of Intellectual Disability Research, 55(4), 361–369  abstract

♦ Bruns DA 2010. Neonatal experiences of newborns with full trisomy 18. (abstract) Adv Neonatal Care 2010, 10:25–31.

♦ Romesberg TL  2008   Building a Case for Neonatal Palliative Care    Neonatal Network: The Journal of Neonatal Nursing

♦ Kaneko Y et al 2008 Intensive cardiac management in patients with trisomy 13 or trisomy 18 Am J Med Genet Part A.

♦ McGraw et al 2007.  Attitudes of Neonatologists Toward Delivery Room Management of Confirmed Trisomy 18: Potential Factors Influencing a Changing Dynamic .  Pediatrics Volume 121, Number 6, June 2008.

♦ Kosho T, et al 2006. Neonatal management of trisomy 18: Clinical details of 24 patients receiving intensive treatment Am J Med Genet Part A 140A:937-944.

♦ Niedrist D, et al 2006. Survival with trisomy 18 – data from Switzerland Am J Med Genet Part A 140A:952–959.

♦ Carey JC 2005. Health Supervision and Anticipatory Guidance for Infants and Children with Trisomy 18 and 13  updated from 1993 Trisomy in Review, Trisomy 18, 13 and Related Disorders, Research Newsletter (SOFT)

♦ Hillelstein BP et al  2004 Pediatric Palliative Care

♦ Baty, BJ, et al, 1994.  Natural History of Trisomy 18 and Trisomy 13: I. Growth, Physical Assessment, Medical Histories, Survival, and Recurrence Risk  Includes Growth & weight charts.

♦ Baty, BJ, et al, 1994.  Natural History of Trisomy 18 and Trisomy 13: II. Psychomotor Development

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