Fetal exome sequencing in a real world setting

Fetal exome sequencing (fES) has been available for some time, but systematic analyses of the outcome are scarce.

Fetal exome sequencing (fES) has been available for some time, but systematic analyses of the outcome are scarce. Based on a series of cases evaluated at CENTOGENE, diagnostic yield of fES was found to be impacted by (i) presence of ultra-sound abnormalities, (ii) positive family history, and (iii) involvement of certain organs. The study was published in the online journal Frontiers in Genetics.