Abstract
Many features of genetic diseases underlying non-immune hydrops fetalis (NIHF) and other abnormal fluid collections such as increased nuchal translucency (NT) are unclear. This limits identification of the underlying reason for abnormal fluid and the ability of genomic sequencing to accurately identify genetic diseases. We aimed to determine the unique fetal phenotypic features associated with single gene disorders in a large cohort of cases with NIHF and other abnormal fluid collections.
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