Fig. 1
Case selection criteria. Chart review of previously evaluated individuals was performed by the clinician team. Probands who were diagnosed with a recognizable pattern of malformation (e.g., isolated Down syndrome), received counseling, and discharged from clinic were excluded from referral to the iHope Program. Probands with acquired disease (e.g.,: suspected environmental exposures) or isolated features (e.g.,: individuals with cleft lip with or without cleft palate) were typically also excluded. Probands with prior non-diagnostic molecular or cytogenic testing were included if all other criteria were met. Resulting families who were eligible for the iHope Program were contacted, offered cWGS, and scheduled to attend a Genome Day. Upon completion of a Genome Day visit, whole-blood samples were transported to the clinical laboratory for cWGS. Dx: diagnosis; cWGS: clinical whole genome sequencing
