Defect evaluation by infant photographs in a multicenter pharmaceutical clinical trial

Object: The NT-04 clinical trial of investigational medication NT100 had a limited, though geographically diverse, study population. To enhance potential birth defect identification, photographic dysmorphology exam of infants was performed along with review of prenatal and postnatal medical records. Methods: Standardized photographic views were developed: full body (prone and supine), face, both profiles, dorsal and ventral hands and feet, genitalia, and birthmarks/skin lesions. Professional photographers were identified and trained. Photos were taken in the first month of life at the subject's home and uploaded to a secure electronic online photo viewer. The evaluating geneticist accessed the photos electronically and submitted an evaluation. Results: Forty subjects had 39 evaluable outcomes (55 babies). Twelve photographers were recruited, 10 of whom worked with multiple subjects. Photographic dysmorphology evaluation was done on 38 pregnancy outcomes. Only one baby had missing photos due to an apparent protocol error. Four babies were photographed with diaper on. Conclusions: The standardized photographs worked well. Advantages include: a single clinician evaluating all infants, the photographs could be reviewed repeatedly as needed, and minor malformations were more uniformly identified. Difficulties were: identifying local photographers and supplying training and training materials. There was no protocol for retaking or obtaining new photos and the study consent form did not include permission to publish the photographs. This was a successful pilot study of infant photographic assessment to detect congenital anomalies in a clinical trial.