Article
Fetal imaging, phenotyping, and genomic testing in modern prenatal diagnosis
15 Dec 2024
Abstract excerpt
Genetic tests available in the prenatal setting have expanded rapidly with next generation sequencing, and fetal imaging can detect a breadth of many structural and functional abnormalities. To identify a fetal genetic disease, deep phenotyping is increasingly important to generate a differential diagnosis, choose the most appropriate genetic tests, and inform the results of those tests. The Human Phenotype...
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