Neeta L. Vora|Bradford C. Powell|Alicia Brandt|Natasha T. Strande|Emily Hardisty|Kelly Gilmore|Ann Katherine M. Foreman|Kirk C. Wilhelmsen|Chris Bizon|Jason Reilly|Phil Owen|Cynthia M. Powell|Debra Skinner|Christine Rini|Anne Drapkin Lyerly|Kim Boggess|Karen E. Weck|Jonathan S. Berg|James P. Evans
Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges
University of North Carolina at Chapel Hill|University of North Carolina at Chapel Hill|University of North Carolina at Chapel Hill|University of North Carolina at Chapel Hill|Renaissance Computing Institute|University of North Carolina at Chapel Hill|University of North Carolina at Chapel Hill|University of North Carolina at Chapel Hill|Renaissance Computing Institute|University of North Carolina at Chapel Hill|Renaissance Computing Institute|University of North Carolina at Chapel Hill|Renaissance Computing Institute|University of North Carolina at Chapel Hill|Renaissance Computing Institute|University of North Carolina at Chapel Hill|University of North Carolina at Chapel Hill|University of North Carolina at Chapel Hill|University of North Carolina at Chapel Hill|University of North Carolina at Chapel Hill|University of North Carolina at Chapel Hill|Renaissance Computing Institute|University of North Carolina at Chapel Hill|University of North Carolina at Chapel Hill|University of North Carolina at Chapel Hill
purposewe investigated diagnostic clinical performance exome sequencing fetuses sonographic abnormalities normal karyotype microarray cases normal genespecific sequencingmethodsexome sequencing performed dna 15 anomalous fetuses peripheral blood parents parents provided consent informed diagnostic results fetus medically actionable findings parents identification carrier couples significant autosomal recessive conditions assessed perceptions understanding exome sequencing using mixed methods 15 motherfather dyadsresultsin seven 47 15 fetuses exome sequencing provided diagnosis possible diagnosis identification variants following genes col1a1 musk kctd1 rttn tmem67 piezo1 dync2h1 one additional case revealed de novo nonsense mutation novel candidate gene map4k4 perceived likelihood exome sequencing would explain results 52 10point scale higher approximately 30 diagnostic yield discussed pretest counselingconclusionexome sequencing diagnostic utility highly select population fetuses genetic diagnosis highly suspected challenges related genetics literacy variant interpretation must addressed highly tailored pre posttest genetic counseling