Studies & Research

Studies and Research

Here, SOFT provides links to study abstracts or the entire study, should copyright law permit.  Click on the highlighted portion of each entry to be taken to the relevant document, where links are available.

♦  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)

The TRIS Project:  Tracking Rare Incidence Syndromes.
 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.

♦  Cavadino, A., et al, 2017  Revised estimates of the risk of fetal loss following a prenatal diagnosis of trisomy 13 or trisomy 18

♦ Carey, J.C., et al,  2014  The Molecular Genetics of Trisomy 18: Phenotype– Genotype Correlations   Angela Peron and John C Carey, Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, Utah, USA

♦ 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

Natural History and Parental Experience of Children with Trisomy 18 Based on a Questionnaire Given to a Japanese Trisomy 18 Parental Support Group,  March 2013

The Experience of Families With Children With Trisomy 13 and 18 in Social Networks  by Annie Janvier, MD, PhD, Barbara Farlow, BEng, MBA and Benjamin S. Wilfond

Population-Based Analyses of Mortality in Trisomy 13 and Trisomy 18
A study of mortality in patients with Trisomy 18 and 13.

Management of infants with large, unrepaired ventricular septal defects (VSDs)
Management of infants with large, unrepaired ventricular septal defects and respiratory infection requiring mechanical ventilation

Feudtner, Chris, et al    Inpatient Hospital Care of Children With Trisomy 13 and Trisomy 18 in the United States,

Boghossian, Nansi, 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.   

Bronsteen R, et al     Second-trimester sonography and trisomy 18.   J Ultrasound Med. 2004 Feb;23(2):233-40.

Cereda, Anna et al   The Trisomy 18 Syndrome. Orphanet Journal of Rare Diseases 7 (2012): 81. PMC. Web. 15 Aug. 2015.

Chen CP et al  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.

 ♦ Crider KS et al  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.

Filkins K, et al    Ultrasound and fetal diagnosis. Curr Opin Obstet Gynecol. 2005 Apr;17(2):185-95. Review.

Moyano D,    Fetal echocardiography in trisomy 18.     Arch Dis Child Fetal Neonatal Ed. 2005 Nov;90(6):F520-2. Epub 2005 May 24. 

Ankathil R, et al    Two cases of isochromosome 18q syndrome.      Singapore Med J. 2007 May;48(5):e146-50.

♦ 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 Dec;88(12):1008-16. doi: 10.1002/bdra.20735. Epub 2010 Sep 28.

♦ Bauer M, et al     Characterisation of a 19-year-old “long-term survivor” with Edwards syndrome.     Genet Couns. 2003;14(2):239-44.

♦ Bird TM, et al     Congenital malformations among liveborn infants with trisomies 18 and 13.  Am J Med Genet A. 2006 Aug 15;140(16):1749-56.

♦ Ramesh KH, et al     Parental origin of the extra chromosome 18 in Edwards syndrome.        Ann Genet. 1996;39(2):110-2.

♦ Friedman JM, et al     Population-based analyses of mortality in trisomy 13 and trisomy 18.    Pediatrics. 2003 Apr;111(4 Pt 1):777-84. 

♦ Garringer, ME, et al   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.

♦ de Crespigny, et al    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.

♦ Chavez D, et al     Prenatal detection of fetal trisomy 18 through abnormal sonographic features.      AM.J Ultrasound Med. 2003 Jun;22(6):581-90; quiz 591-2.