New Clinical Literature Resource for Parents and Families
To learn more about Finding Answers in the Medical Literature in Trisomy 18 Foundation Clinical Literature Resource for Parents and Families.
These studies from the medical literature are largely examining the natural outcome or the outcome of potential surgical interventions and surgical repairs of specific malformations or birth defects that infants with Trisomy 18 are commonly born with. Many studies evaluate whether interventions improve the quality or duration of the child’s life beyond the first year. While the term “incompatible with life” is not an accurate description for a child diagnosed with Trisomy 18, it remains true that a Trisomy 18 diagnosis is incompatible with a normal adult lifetime even with surgical repairs of selected birth defects for the child.
Currently, there are no treatments that can prevent the underlying genetic cause of the birth defects seen with Trisomy 18. There are no treatments that can reverse or modify the underlying causes of the many life-threatening symptoms of Trisomy 18 in the developing brain, respiratory system, heart, or gastro-intestinal system. Here at the Foundation, our leadership is working diligently to identify and fund promising leads that will address this unmet need to understand and treat the underlying causes that result in such high mortality rates for Trisomy 18 impacted children throughout the life-cycle.
These articles are available for public access to download and read at no cost to you through these links. We will continue to update this list with relevant literature to assist you in being informed advocates for your child.
- Boghossian, Nansi S. et al. “Mortality and Morbidity of VLBW Infants With Trisomy 13 or Trisomy 18.” Pediatrics 133.2 (2014): 226–235. PMC. Web. 15 Aug. 2015. PubMed citation.
- Bronsteen R, Lee W, Vettraino IM, Huang R, Comstock CH. Second-trimester sonography and trisomy 18. J Ultrasound Med. 2004 Feb;23(2):233-40. PubMed citation
- Cereda, Anna, and John C Carey. “The Trisomy 18 Syndrome.” Orphanet Journal of Rare Diseases 7 (2012): 81. PMC. Web. 15 Aug. 2015. PubMed citation.
- Chen CP, Chern SR, Tsai FJ, Lin CY, Lin YH, Wang W. A comparison of maternal age, sex ratio and associated major anomalies among fetal trisomy 18 cases with different cell division of error. Prenat Diagn. 2005 Apr;25(4):327-30. PubMed citation
- Crider KS, Olney RS, Cragan JD. Trisomies 13 and 18: population prevalences, characteristics, and prenatal diagnosis, metropolitan Atlanta, 1994-2003. Am J Med Genet A. 2008 Apr 1;146A(7):820-6. doi: 10.1002/ajmg.a.32200. PubMed citation
- Filkins K, Koos BJ. Ultrasound and fetal diagnosis. Curr Opin Obstet Gynecol. 2005 Apr;17(2):185-95. Review. PubMed citation
- 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 Mar 15;93(6):801-3. PubMed citation
- Moyano D, Huggon IC, Allan LD. Fetal echocardiography in trisomy 18. Arch Dis Child Fetal Neonatal Ed. 2005 Nov;90(6):F520-2. Epub 2005 May 24. PubMed citation
- Pal S, Siti MI, Ankathil R, Zilfalil BA. Two cases of isochromosome 18q syndrome. Singapore Med J. 2007 May;48(5):e146-50. PubMed citation
- Parker SE, Mai CT, Canfield MA, Rickard R, Wang Y, Meyer RE, Anderson P, Mason CA, Collins JS, Kirby RS, Correa A; 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 Dec;88(12):1008-16. doi: 10.1002/bdra.20735. Epub 2010 Sep 28.PubMed citation
- Petek E, Pertl B, Tschernigg M, Bauer M, Mayr J, Wagner K, Kroisel PM. Characterisation of a 19-year-old “long-term survivor” with Edwards syndrome. Genet Couns. 2003;14(2):239-44.PubMed citation
- Pont SJ, Robbins JM, Bird TM, Gibson JB, Cleves MA, Tilford JM, Aitken ME. Congenital malformations among liveborn infants with trisomies 18 and 13. Am J Med Genet A. 2006 Aug 15;140(16):1749-56. PubMed citation
- Ramesh KH, Verma RS. Parental origin of the extra chromosome 18 in Edwards syndrome. Ann Genet. 1996;39(2):110-2. PubMed citation
- Rasmussen SA, Wong LY, Yang Q, May KM, Friedman JM. Population-based analyses of mortality in trisomy 13 and trisomy 18. Pediatrics. 2003 Apr;111(4 Pt 1):777-84. PubMed citation
- Tucker ME, Garringer HJ, Weaver DD. Phenotypic spectrum of mosaic trisomy 18: two new patients, a literature review, and counseling issues. Am J Med Genet A. 2007 Mar 1;143A(5):505-17. Review. PubMed citation
- Wilkinson, Dominic, Lachlan de Crespigny, and Vicki Xafis. “Ethical Language and Decision-Making for Prenatally Diagnosed Lethal Malformations.”Seminars in Fetal & Neonatal Medicine 19.5 (2014): 306–311. PMC. Web. 15 Aug. 2015. PubMed citation.
- Yeo L, Guzman ER, Day-Salvatore D, Walters C, Chavez D, Vintzileos AM. Prenatal detection of fetal trisomy 18 through abnormal sonographic features. J Ultrasound Med. 2003 Jun;22(6):581-90; quiz 591-2. PubMed citation