Literature – General Topics

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Professional Literature:  General Topics

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.  Also. see the Cardiac Surgery & Care,  Care and Management,  Ethics and Commentaries literature. 

♦  ♦  Cummins, D, et al,  2017  Using Patient-Centered Care After a Prenatal Diagnosis of Trisomy 18 or Trisomy 13: A Review.
JAMA Pediatr. 2017 Feb 13. doi: 10.1001/jamapediatrics.2016.4798. [Epub ahead of print]

♦  Katie Stoll and Heidi Lindh, 2015:    PPV Puffery?  Sizing Up NIPT Statistics   The authors are genetic counselors and both work with the newly established charitable nonprofit, the Genetic Support Foundation (twitter @GeneticSupport)

♦  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]

♦  Bruns, DA, et al 2016   Oral health needs in individuals with trisomy 18 and trisomy 13: Implications for dental professionals  Spec Care Dentist 36(1): 18-24, 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.

♦  Bruns, DA, 2015  Developmental Status of 22 Children with Trisomy 18 and Eight Children with Trisomy 13: Implications and Recommendations   Am J Med Genet Part A 167A:1807–1815

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.

♦  Meyer, et al 2015 Survivval of children with trisomy 13 and trisomy 18: a multistate population-based study. American Journal of Medical Genetics Part A,   (Abstract)

♦ 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

♦  Cheung, SW, et al, 2015    Accurate Description of DNA-Based Noninvasive Prenatal Screening   New England Journal of  Medicine 2015; 372:1675-1677April 23, 2015DOI: 10.1056/NEJMc1412222

♦  Costello, JP, et al, 2015,  A Contemporary, Single-Institutional Experience of Surgical Versus Expectant Management of Congenital Heart Disease in Trisomy 13 and 18 Patients                            Pediatr Cardiol. 2015 Jan 23. [Epub ahead of print]

♦  Bruns, DA, et al 2014  Nine Children Over the Age of One Year with Full Trisomy 13: A Case Series Describing Medical Conditions  American Journal of Medical Genetics, Part C, Seminars in Medical Genetics, September 15, 2016 (whole issue)

 Chen, H, 2014  Trisomy 18 Clinical Presentation, Medscape Aug 27, 2014

♦ Peron, A, Carey, JC 2014 The Molecular Genetics of Trisomy 18: Phenotype–Genotype Correlations Wiley Online Library DOI: 10.1002/9780470015902.a0025246

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

♦  Bruns, DA, et al 2013  Feeding Changes in Children With Trisomy 18: Longitudinal Data on Primary Feeding Method and Reflux Identification and Treatment   Top Clin Nutr Vol. 28, No. 4, pp. 324–334 

Janvier, A  2013  Medical Interventions for Children with Trisomy 18 and 13: What is the Value of a Short Disabled Life?  ©2013 Foundation Acta Pædiatrica. Published by John Wiley & Sons Ltd 2013 102, pp. 1112–1117

♦ 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

♦ Janvier, et al, 2013  “Our children are not a diagnosis”: the family experience of trisomy 13 and 18   Neonatal Research

♦ Nishi, et al 2013  Surgical Intervention for esophageal atresia in patients with trisomy 18 (abstract)  The 1-year survival rate was 17%: 27% in those receiving radical surgery

♦ Wu, et al  2013  Survival Rates, Times Noted for Live Births With Trisomy 13 and 18  Wu et al suggest 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.   American Journal of Medical Genetics Part AVolume 161, Issue 10, Article first published online: 17 SEP 2013

♦ Loane M et al 2013.  Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening. Eur J Hum Genet. 2013 Jan;21(1):27-33 (abstract)

♦ 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.

♦ Palomaki GE, Deciu C, Kloza EM, et al. 2012. DNA Sequencing of Maternal Plasma Reliably Identifies Trisomy 18 and Trisomy 13, as well as Down Syndrome: International Collaborative Study. Genetics in Medicine 14:296-305.

♦ 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

♦ Boghossian, et al, 2012  Anthropometric Charts for Infants with Trisomies 21, 18 or 13 Born between 22 Weeks Gestation and Term: The VON Charts.   Am J Med Genet A. 2012 Feb; 0(2): 322-332, Published online 2012 Jan 13.  doi:  10.1002/ajmg.a.34423

♦ 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 AAPPediatrics. 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

♦ Cereda A et al 2012. The Trisomy 18 Syndrome  Orphanet Journal of Rare Diseases 2012, 7:81

♦ 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 Jul;63(3):191-8

♦ 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

♦ 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

♦ 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.

♦ Barnes AM, Carey JC 2012.  Common Problems of Babies with Trisomy 18 or 13  www.trisomy.org

♦ Kumada T et al 2012.  Whorled Eyebrows:  A common facial feature of children with trisomy 18  J Pediatrics 2012; 161(5):962-963

♦ Peroos S et al 2012.  Longevity and Patau syndrome: what determines survival? BMJ Case Rep. 2012 Dec 6;2012. pii: bcr0620114381. doi: 10.1136/bcr-06-2011-4381.

♦ 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

♦ Janvier A et al  2011 Ethical Rounds: An infant with trisomy 18 and a ventricular septal defect  Pediatrics, Volume 127, Number 4, April 2011

♦ Carey JC 2011. review of Janvier A et al 2011  Ethical Rounds: An infant with trisomy 18 and a ventricular septal defect.  Pediatrics 127:754-759. SOFT Times May/June/July 2011

♦ Carey JC 2011. review of Irving C et al 2011,  Changes in Prevalence and Outcome for Trisomies 13 and 18: A population-based study over 23 years.  Journal of Maternal-Fetal and Neonatal Medicine 24:137-141. SOFT Times Feb/Mar/Apr 2011

♦ Carey JC 2011. analysis of  Kaneko Y et al  2009  Cardiac Surgery in Patients with Trisomy 18  Pediatr Cardiol 30:729-734. SOFT Times Nov/Dec/Jan 2010-11

♦ Carey JC 2011. review of Crider KS et al 2008,  Trisomies 13 and 18: Population Prevalences, Characteristics, and Prenatal Diagnosis, metropolitan Atlanta, 1994-2003. Am J Med Genet A. 2008 Apr 1;146(7):820-6. doi: 10.1002/ajmg.a.32200.

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

♦ Bruns D 2011.  Birth history, physical characteristics, and medical conditions in long-term survivors with full trisomy 13. Am J Med Genet A. 2011 Nov;155A(11):2634-40. doi: 10.1002/ajmg.a.34283. Epub 2011 Oct 11  Abstract

♦ Banka S et al 2011.  Trisomy 18 Mosaicism: Report of two cases  World J Pediatr. 2011 Nov 21  Abstract

♦ Yates AR et al 2011.  Pediatric sub-specialist controversies in the treatment of congenital heart disease in trisomy 13 or 18. J Genet Couns. 2011 Oct;20(5):495-509.  Abstract

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

♦ De Souza E et al 2009. Recurrence risks for trisomies 13, 18, and 21. Am J Med Genet 2009, 149A:2716–2722.

♦ Morris JK et al 2008. The risk of fetal loss following a prenatal diagnosis of trisomy 13 or trisomy 18. Am J Med Genet 2008, 146A:827–832.

♦ 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.

♦ Carey JC 2006. Introductory comments special section: Trisomy 18. Am J Med Genet Part A 140A:935–936

♦ 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.

♦ Lin H-Y et al 2006. Clinical characteristics and survival of trisomy 18 in a medical center in Taipei, 1988-2004 Am J Med Genet Part A 140A:945–951.

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

♦ Chen C-P 2006. Aplasia and duplication of the thumb and facial clefts associated with fetal trisomy 18 Am J Med Genet Part A 140A:960–963.

♦ Lebel RR, et al 2006. Regarding trisomy 18 Am J Med Genet Part A 140A:964–965.

♦ Shanske AL 2006. Trisomy 18 in a second 20-year-old woman Am J Med Genet Part A 140A:966–967.

♦ 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)

♦ 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

♦ Carey JC 1993.  Trisomy in Review, Trisomy 18, 13, and Related Disorders, Research Newsletter Review of articles published 1988-1991:  Phenotype and natural history of partial trisomy 18  – Congenital heart defects  – Survival studies  – Oncology  – Prenatal diagnosis

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