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Beyond diagnostic yield: prenatal exome sequencing results in maternal, neonatal, and familial clinical management changes
PURPOSE: Previous studies have reported that prenatal exome sequencing (pES) can detect monogenic diseases in fetuses with congenital anomalies with diagnostic yields ranging from 6% to 81%, but there are few reports of its clinical utility. METHODS: We conducted a retrospective chart review of pati...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group US
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7804210/ https://www.ncbi.nlm.nih.gov/pubmed/33442022 http://dx.doi.org/10.1038/s41436-020-01067-9 |