Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis: Prenatal diagnosis has historically been performed with the use of G-banded karyotyping to detect chromosomal abnormalities. This approach results in a diagnosis in 9 to 19% of fetal anomalies, and chromosomal microarray analysis provides an additional 6% yield. Therefore, the cause of the majority…
Nonimmune hydrops fetalis (NIHF) has a striking appearance on ultrasonography and is classically defined by the presence of pathologic fluid accumulation in at least two fetal sites, including the serous cavities (pericardial, pleural, and peritoneal), with associated skin edema. Its diagnosis is…
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