PIEZO1 mutation: a rare aetiology for fetal ascites.

Abstract excerpt

We present a case of isolated fetal ascites diagnosed at 20 weeks' gestation. No aetiology was identified on extensive prenatal workup, including prenatal microarray. The patient terminated the pregnancy at 23 weeks' gestation. Exome sequencing was performed on the products of conception, which ended up giving insight into a possible cause for the ascites. Two heterozygous missense variants of uncertain...

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