Participate in Clinical Trial

Affected Individual's Opinions Towards Preimplantation Genetic Testing for Monogenic Craniofacial Conditions

Conducted by Chole Andreas, graduate student at the Long Island University Genetic Counseling Program, and overseen by thesis advisor Daniel Ilg, MS, CGC.

This study seeks to understand individual's who are affected with a craniofacial disorder perspectives on preconception genetic testing for monogenic disorders (PGT-M). PGT-M is a method that can test embryos for the presence or absence of inherited genetic variants while undergoing in vitro fertilization (IVF).

The purpose of the study is to explore attitudes and patterns among people with craniofacial conditions regarding their views on PGT-M and its usage. Finding from this study aim to support genetic counselors in understanding the range of perspectives among families affected by craniofacial conditions and to enhance the support provided to patients. 

To be eligible for the study:

  • You must be 18 years of age or older
  • Be fluent in English
  • Have a diagnosis of one of the following:
    • Apert syndrome,
    • Crouzon syndrome,
    • Muenke syndrome,
    • Pfeiffer syndrome,
    • Sarthre-Chotzen syndrome,
    • Treacher Collins syndrome,

and have previous genetic testing to confirm your diagnosis.

If you decide to participate, you will asked to take an online survey. The survey will take approximately 15 minutes to complete, and the responses are anonymous.

If you would like to participate, please access the survey via this link:
https://lnkd.in/gajkQ3Nf

For questions and concerns, please contact Chole Andreas at [email protected] or the faculty investigator, Monika Zak, MS, CGC at [email protected]

This study has been approved by the Long Island University Institutional Review Board who can be contacted at [email protected] for any inquiries.