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Implementation of exome sequencing in fetal diagnostics – data and experiences from a tertiary center in Denmark by Becher, Naja; Andreasen, Lotte; Sandager, Puk; Lou, Stina; Petersen, Olav Bjà ̧rn; Christensen, Rikke; Vogel, Ida is a Medicine article available to read on EtoBox.

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## Introduction: Applying whole-exome sequencing (wes) for the diagnosis of diseases in children has shown significant diagnostic strength compared with chromosomal microarray. wes may also have the potential of adding clinically relevant prenatal information in cases where a fetus is found to have structural anomalies. we present results from the first fetal exomes performed in a tertiary center in denmark. ## Material and methods: Couples/expectant parents were included in central denmark region from july 2016 to march 2019. inclusion was not systematic, but where one or more fetal malformations or severe fetal hydrops were detected, and a specific diagnosis had not been obtained by chromosomal microarray. wes was performed in ongoing pregnancies (n = 11), after intrauterine demise (n = 5), or after termination of pregnancy based on ultrasound findings (n = 19). in most cases, a trio format was applied comprising fetal and parental dna. ## Results: Wes was performed in 35 highly selected fetal cases. pathogenic variants, or variants likely to explain the phenotype, were detected in 9/35 (26%). variants of uncertain significance were detected in 7/35 (20%) and there was one second

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Author

Becher, Naja; Andreasen, Lotte; Sandager, Puk; Lou, Stina; Petersen, Olav Bjà ̧rn; Christensen, Rikke; Vogel, Ida

Publisher

Informa plc; Wiley (Blackwell Publishing); Wiley-Blackwell; Wiley (ISSN 0001-6349)

Published

2020

Language

EN

Field

Medicine (Health Sciences)