Publications

Publications

Peer-reviewed publications published by our staff:

• Never “totally prepared”: Support groups on helping families prepare for a child with a genetic condition (2023) in Journal of Community Genetics by Kaitlynn P Craig, Kirsten A Riggan, Sabina Rubeck, Stephanie H Meredith, Megan A Allyse, Marsha Michie
• Recommendations to improve the patient experience and avoid bias when prenatal screening/testing (2022) in the Disability and Health Journal by Stephanie Meredith MA, Scotti Brackett RN, APRN, FNP, Keith M. Diaz PhD, Kathleen G. Freeman PhD, RNC, Erin Huggins MS, CGC, Hadia Khan BA, Mark W. Leach JD, MA, Mitchell Levitz, Marsha Michie PhD, Janet Onufer OD, Brian G. Skotko MD, MPP, Leah Smith MPA, A. Nicole White MBA, PhD, Tracy Waller Esq., MPH, Kara Ayers PhD, Prenatal Subcommittee of the Center for Dignity in Healthcare for People with Disabilities
• Adherence of Cell-Free DNA Noninvasive Prenatal Screens to ACMG Recommendations by Brian G. Skotko, Megan A. Allyse, Komal Bajaj, Robert G. Best, Susan Klugman, Mark Leach, Stephanie Meredith, Marsha Michie, Katie Stoll, Anthony R. Gregg
• Impact of the increased adoption of prenatal cfDNA screening on non-profit patient advocacy organizations in the United States by Stephanie Meredith, Christopher Kaposy, Victoria J. Miller, Megan Allyse, Subhashini Chandrasekharan, and Marsha Michie, on behalf of the Prenatal Testing PAG Coalition* (2016) in Prenatal Diagnosis
• The Down Syndrome Information Act: Balancing the Advances of Prenatal Testing Through Public Policy by Mark Leach (2016) in the Intellectual and Developmental Disabilities Journal by AAIDD
• Beyond the Genetic Diagnosis: Providing Parents What They Want to Know by Robert A. Saul, Stephanie Hall Meredith (2016) in Pediatrics in Review
• Prenatal Testing: Understanding What’s New and How to Get Support and Information by Eidelman, Steven M.; Meredith, Stephanie; Saul, Robert A. (2015) in The Exceptional Parent

Resources

Our resources have been featured  in the following academic and news articles:

Academic Articles

• Health Supervision for Children and Adolescents With Down Syndrome by Marilyn J. Bull, MD, FAAP; Tracy Trotter, MD, FAAP; Stephanie L. Santoro, MD, FAAP; Celanie Christensen, MD, MS, FAAP; Randall W. Grout, MD, MS, FAAP; THE COUNCIL ON GENETICS
  • Prenatal and Infancy Recommended Resources:
  • Brighter Tomorrows Supporting Families: https://hdi.uky.edu/project/brighter-tomorrows-supporting-families-with-accurate-information-about-down-syndrome. Supporting families with accurate information about Down syndrome (includes Lettercase resources). Interdisciplinary Human Development Institute, University of Kentucky.
  • Lettercase resources: www.lettercase.org. Provides prenatal and postnatal counseling for families. One copy provided free to professionals and family.
  • Down Syndrome Diagnosis Network: www.dsdiagnosisnetwork.org. Cohorts of families with similar due dates or birthdates connected in moderated Facebook groups.
  • Skallerup SJ. Babies With Down Syndrome: A New Parents Guide, 3rd ed. Bethesda, MD: Woodbine House; 2009. (English and Spanish editions available at www.woodbinehouse.com.) Provides guidance for raising and caring for a child with Down syndrome through age 5.
• Debate Surrounds State Laws for Down Syndrome Fact Sheets: the AJMG SEQUENCE: Decoding News and Trends for the Medical Genetics Community by Deborah Levenson, 17 February 2016
• Attitudes of Mothers of Children with Down Syndrome Towards Noninvasive Prenatal Testing by Gregory Kellogg, Leah Slattery, Louanne Hudgins, and Kelly Ormond, J Genet Couns. 2014 Oct; 23(5): 805–813.
• Levis DM, Harris S, Whitehead N, et al. Women’s knowledge, attitudes, and beliefs about Down syndrome: A qualitative research study. Am J Med Genet Part A 2012;158A:1355–1362.
• Sheets KB, Crissman BG, Feist CD, et al. Practice guidelines for communicating a prenatal or postnatal diagnosis of down syndrome: recommendations of the national society of genetic counselors. J Genet Couns 2011;20:432–441.
• Leach M and Skotko B. Letter to the Editor.Genet in Med 2012;14:348.
• Hippman C, Inglis A, and Austin J. What is a “Balanced” Description? Insight from Parents of Individuals with Down Syndrome. J Genet Counsel 2012;21:35-44.
• Skotko, B.G., Levine, S.P., Goldstein, R. Having a Son or Daughter with Down Syndrome: Perspectives from Mothers and Fathers. Am J of Med Genet Part A 2011;155:2335-2347.
• Skotko, B.G., Levine, S.P., Goldstein, R. Having a Brother or Sister with Down Syndrome: Perspectives from Siblings. Am J of Med Genet Part A: 2011;155:2348-2359.
• Skotko, B.G., Levine, S.P., Goldstein, R. (2011). Self-perceptions from People with Down Syndrome. Am J of Med Genet, Part A: 2011;155:2360-2369.
• Madeo A, Biesecker BB, Brasington C, Erby LH, Peters KF. The relationship of the genetic counseling profession and the disability community: A commentary. Am J Med Genet Part A 2011;155:1777–1785.
• Dent K, Harper C, Kearney, L, et al. Embracing the Unique Role of Genetic Counselors: Response to the Commentary by Madeo et al. Am J Med Genet Part A 2011;155:1791–1793.
• Edwards, Janice & Ferrante, Richard. Toward Concurrence: Toward Concurrence: Understanding Prenatal Screening and Diagnosis of Down Syndrome from the Health Professional and Advocacy Community Perspectives. 2009.

Popular Media

• HuffPost: 3 Things You Can Do for World Down Syndrome Day by Meriah Nichols (December 6, 2017)
• The Nation: We’re Failing Our Test Run for the Age of CRISPR by David Perry (October 29, 2017)
• SheKnows: Parenting my kid who has Down syndrome isn’t all rainbows and unicorns by Maureen Wallace (June 8, 2016)
• SheKnows: Why I didn’t terminate my pregnancy after a Down syndrome diagnosis by Maureen Wallace (February 20, 2015)
• Parents.com: Down Syndrome Resources by Amy Julia Becker (2012)
• Denver Post: Life with Down Syndrome by Jeremy P. Meyer (December 18, 2011)
• Washington Post: Understanding a Down Syndrome Diagnosis by Allison Hassett Wohl (July 11, 2011)