Nonimmune hydrops fetalis: identifying the underlying genetic etiology
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DOI: 10.1038/s41436-018-0352-6
Abstract: ABSTRACTPurposeNumerous etiologies may lead to nonimmune hydrops fetalis (NIHF), and the underlying cause often remains unclear. We aimed to determine the proportion of NIHF cases in which the etiology was clearly determined in a large,… read more here.
Keywords: nonimmune hydrops; etiology; nihf cases; hydrops fetalis ... See more keywords
Lysosomal storage disorders in nonimmune hydrops fetalis diagnosed by exome sequencing
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DOI: 10.1186/s13023-025-03851-9
Abstract: Lysosomal storage disorders (LSD) are a group of inherited metabolic diseases that contribute to nonimmune hydrops fetalis (NIHF). Our objective was to review the pooled exome sequencing (ES) diagnostic yield of LSD in NIHF cases.… read more here.
Keywords: hydrops fetalis; storage disorders; lsd; lysosomal storage ... See more keywords
An Investigation of the Etiologies of Non-Immune Hydrops Fetalis in the Era of Next-Generation Sequence—A Single Center Experience
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DOI: 10.3390/genes13122231
Abstract: (1) Background: Numerous etiologies may lead to non-immune hydrops fetalis (NIHF). However, the causes remain unclear in half of NIHF cases following current standard assessment. The application of prenatal chromosomal microarray analysis (CMA) and exome… read more here.
Keywords: nihf cases; non immune; immune hydrops; era next ... See more keywords