Genome Sequencing in the Setting of Fetal Structural Anomalies
BACKGROUND AND PURPOSE:
Wang et al. (Prenatal Diagnosis, 2022) investigated the potential of genome sequencing as a single comprehensive prenatal test when fetal abnormalities are detected on ultrasound
Prospective cohort study
Ultrasound-identified structural abnormalities | At least one finding was not a soft marker
Undergoing invasive prenatal testing
Genome sequencing, in parallel with standard diagnostic testing
Genetic variants were classified according to ACMG guidelines and reviewed by a panel of board-certified laboratory and clinical geneticists
Clinical sensitivity of genome sequencing
37 fetuses received genome sequencing
Routine diagnostic testing included
Rapid Aneuploidy Detection (RAD) by QF-PCR
DNA sequencing using gene panels or exome sequencing if indicated
Diagnostic sequence variants identified: 14% of population (in 5 fetuses)
Variants of uncertain significance found: 19% of population (in 7 fetuses)
Genome sequencing also identified the 2 CNVs (5% of cases) reported by clinical microarray including
Genome sequencing identified all pathogenic variants reported by clinical microarray and exome sequencing
Genome sequencing in this population achieved a diagnostic yield of 19% (5 sequence variants and 2 copy number variants)
Variants of uncertain significance were identified in a further 19% of fetuses, which may explain structural anomalies observed
The authors state
In conclusion, this study provides further evidence that GS has the potential to replace multiple consecutive tests, including microarray, gene panels, and ES, to provide the most comprehensive genetic analysis rapidly
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