Parent-reported histories of adults with trisomy 13 syndrome

Clinical histories and outcome data of long-term survivors with trisomy 13 are rare. The goal of this study was to collect the medical histories of adult individuals (>= 18 years old) with apparent non-mosaic trisomy 13/Patau syndrome to help gain further insight in to the clinical course for individuals with this condition and to characterize the manifestations for surveillance and management. We collected 11 families through a contact person with the LWT13 (Living with Trisomy 13) LIFE support group. We performed telephone interviews to gather their medical histories and report these data in system-based summaries, tables, and clinical vignettes. In instances where parents retained copies of genetic testing reports or clinicians currently taking care of the individual with trisomy 13 were able to provide documentation, we confirmed diagnosis. All clinical histories and reported manifestations were consistent with a diagnosis of trisomy 13. We also elicited comments from parents on their personal experiences of raising an individual with trisomy 13.

Automated summary

This study aimed to collect medical histories of adult individuals with trisomy 13/Patau syndrome to gain further insight into the clinical course and manifestations for surveillance and management. Data was collected from 11 families through contact with the LWT13 LIFE support group, and confirmed to be consistent with a diagnosis of trisomy 13. Parents' comments on their experiences were also recorded.