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Nonimmune hydrops fetalis (NIHF) is diagnosed through ultrasound detection of at least one of the following features: fetal skin edema, ascites, and pleural or pericardial effusions. Can exome sequencing help determine the cause of NIHF? Researchers sequenced fetal DNA from 127 pregnancies affected by NIHF; parental DNA was also sequenced in most cases. Genetic variants were classified using criteria of the American College of Medical Genetics and Genomics.
Diagnostic genetic variants were identified in 37 fetuses (29% of the cohort) and were associated with a wide array of genetic diseases. For example, 11 cases had de novo autosomal dominant genetic variants in the RAS-MAPK cell-signaling pathway, including variants causing conditions such…