Fetal exome sequencing in a real world setting

Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families.

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.