Saturday, May 28, 2016

Tools for Genetic Counselors and other Professionals

“Thank you so much for the 'genetic counselor' tab that has links to so many great resources all in one place. Your website is the first place I go for resources for parents with a prenatal diagnosis or positive screening result for SCA. We are detecting more and more SCA in the prenatal period due to the growing use of NIPT, and it is very helpful for my patients to have these handouts.”
Michelle Lyons, MS, CGC | Genetic Counselor | Barnabas Health | Long Branch | NJ

"I just wanted to take a moment to thank AXYS for sending out the Family Guide Book to genetic counselors.  It is a great resource and I had the opportunity to use it and some other resources on your web site today.   It was very helpful to the family. Thanks so much,"

Jessica M. Goehringer, MS, LGC | Professional Tools and Resources | Geisinger Medical Center | Lewisburg | PA

AXYS has provided this collection of downloadable information for genetic counselors and other professionals who need current information about X and Y chromosome aneuploidy based on the most recent research. We recommend that you provide your clients with copies of the relevant brochure and FAQs, as well as additional information that may benefit families with whom you are meeting. Also, please provide them with the toll free number, 888-999-9428, that they may call to be linked with a support parent or peer. AXYS's website also offers invaluable information for obtaining support.

All materials in this collection are downloadable and provided with appropriate author permissions for use in clinical education and support.


Printable FAQs:

NIPT Training:  Webinar - Complexities in NIPT counseling for sex chromosome aneuploidies
Produced by Ariosa Diagnostics in Collaboration with AXYS.

2014 NSGC Conference
AXYS and the NSGC Prenatal SIG sponsored a presentation on these conditions at the 2014 NSGC conference.
Session # 210 Sex Chromosome Aneuploidies: A Multidisciplinary Perspective on Counseling and Current Treatment Recommendations
1: Nicole Tartaglia, MD, Children’s Hospital Colorado, University of Colorado School of Medicine;
2: Pravin Rao, MD, The Johns Hopkins University School of Medicine;
3: Susan Howell, MS, CGC, MBA, The eXtraordinarY Kids Clinic and Fragile X Clinic, Children’s Hospital Colorado
  • Describe the features associated with Sex Chromosome Aneuploidies (SCAs) from developmental, endocrinological, fertility and psychological perspectives.
  • Summarize medical management recommendations across the lifespan.
  • Discuss genetic counseling issues and identify strategies and resources to provide effective prenatal and postnatal genetic counseling.
Submitted/Sponsored by: Prenatal Counseling/Ultrasound Anomalies SIG

Articles and book chapter addressing X and Y chromosome variations

Book Chapter:

Peer Reviewed Articles:

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