Resources for Providers

The following resources were created by respected medical organizations or medical expert consensus and can serve as useful references for medical providers.

Posters and Publications

Click here to view all posters and publications highlighted at tradeshows.

Delivering a Diagnosis

  • Sheets, KB, Crissman, BG, Feist, CD, Sell, SL, Johnson, LR, Donahue, KC, Masser-Frye, D, Brookshire, GS, Carre, AM, Lagrave, D, Brasington, CK. (2011). Practice guidelines for communicating a prenatal or postnatal diagnosis of Down syndrome: Recommendations of the National Society of Genetic Counselors. J Genet Counsel, 20, 432–441. http://doi: 10.1007/s10897-011-9375-8.
  • Ferguson, JE 2nd, Kleinert, HL, Lunney, CA, Campbell, LR. (2006). Resident physicians’ competencies and attitudes in delivering a postnatal diagnosis of Down syndrome. Obstet Gyneco, 108,898–905. http:// doi: 10.1002/ajmg.a.34422.
  • Lunney, CA, Kleinert, HL, Ferguson, JE 2nd, Campbell, L. (2012). Effectively training pediatric residents to deliver diagnoses of Down syndrome. Am J Med Genet, 158A, 384-90. http:// doi: 10.1002/ajmg.a.34422

Healthcare Guidelines:

    • Healthcare Supervision for Children with Down Syndrome:
      Marilyn J. Bull, MD, and the Committee on Genetics. (2011). Health supervision for children with Down syndrome. Pediatrics, 128[2], 393-406.
    • Healthcare Supervision for Children with Turner Syndrome:
      Bondy, CA, Turner Syndrome Study Group. (2007). Care of girls and women with Turner syndrome: A guideline of the Turner Syndrome Study Group. J Clin Endocrinol Metab, 92,10–25.
    • Healthcare Supervision for Children with 22q11 Deletion Syndrome (DiGeorge syndrome):
      Bassett, AS, McDonald-McGinn, DM, Devriendt, K, et al. International 22q11.2 Deletion Syndrome Consortium. (2011). Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr, 159, 332–9.e1. http:// doi:10.1016/j.jpeds.2011.02.039.Habel, A, Herriot, R, Kumararatne, D, et al. (2014). Towards a safety net for management of 22q11.2 deletion syndrome: Guidelines for our times. Eur J Pediatr, 173, 757–765.

    Information Regarding Other Genetic Conditions:

  • GeneReviews
    This online resource for clinicians provides peer-reviewed information written by medical experts. Information is updated every two to four years through a formal review process.
  • Genetic Home Reference


    • Genetic testing Benefits Investigation/Prior Authorization form: download here