Literature for Professionals and Families


SOFT maintains copies of, or links to, professional literature and abstracts about trisomy and related conditions.  

Please also click on the “Professionals” tab of the website menu bar to see other professional materials.

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 

•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

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

•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.

•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 

•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  

•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. 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.    

•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 

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

•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 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. 

SOFT thanks John Wiley & Sons for providing the following seven articles about trisomy 18, (AM Journal Med Gen 5/1/06)

 • 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