Key points
What's already known about this topic?
Genetic lymphatic disorders are a common cause of non‐immune hydrops fetalis, with PIEZO1 being one of the more recently established disease‐causing genes.
What does this study add?
Disease‐causing PIEZO1 variants have mostly been reported as single nucleotide variants or small indels. We report on a fetus with compound heterozygous deletions within and including PIEZO1. The deletions were not detected by chromosomal microarray (CMA).
This case highlights the value of exome sequencing in detecting copy number variants that are below CMA resolution.
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