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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.

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. http://pediatrics.aappublications.org/content/128/2/393
    • 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

Forms

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