Letter to the Editor: Comment to Diderich et al. The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosis (EJMG 66(10),104844)

Article Genetics & Heredity

The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosis

Karin E. M. Diderich et al.

Summary: This retrospective study reviewed the results of prenatal exome sequencing and investigated the decision factors for reporting variant of uncertain significance (VUS) and the key elements for managing uncertain results. The study found that some VUS could be reclassified as likely pathogenic variants based on clinical follow-up. To protect pregnant couples from the burden of uncertain results, genetic professionals should limit the reporting of VUS and consider individual cases, disease characteristics, and share experiences and responsibilities in a multidisciplinary prenatal team.

EUROPEAN JOURNAL OF MEDICAL GENETICS (2023)

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Review Acoustics

Diagnostic yield of exome sequencing in fetuses with multisystem malformations: systematic review and meta-analysis

M. Pauta et al.

Summary: This study aimed to determine the diagnostic yield of exome sequencing in fetuses with multisystem structural anomalies. The results showed that exome sequencing was able to identify potentially causative genes in up to one-third of cases where chromosomal microarray analysis or karyotyping had failed to do so.

ULTRASOUND IN OBSTETRICS & GYNECOLOGY (2022)

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Article Genetics & Heredity

Impact of variation in practice in the prenatal reporting of variants of uncertain significance by commercial laboratories: Need for greater adherence to published guidelines

Melissa Cornthwaite et al.

Summary: This study evaluated the impact of implementing commercial whole exome sequencing and targeted gene panel testing in pregnancies with fetal anomalies. The results showed an overall increase in diagnostic yield, however, the reporting of variants of uncertain significance (VUS) added significant resource implications. These findings support the need for a multidisciplinary approach in prenatal genetics and genomics.

PRENATAL DIAGNOSIS (2022)

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Article Genetics & Heredity