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Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing
The yield of genetic prenatal diagnosis has been notably improved by introducing whole genome chromosomal microarray (CMA) and prenatal exome sequencing (pES). However, together with increased numbers of diagnoses made, the need to manage challenging findings such as variants of unknown significance...
Autores principales: | Diderich, Karin E M, Klapwijk, Jasmijn E, van der Schoot, Vyne, Brüggenwirth, Hennie T, Joosten, Marieke, Srebniak, Malgorzata I |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Dove
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10198275/ https://www.ncbi.nlm.nih.gov/pubmed/37216148 http://dx.doi.org/10.2147/TACG.S411185 |
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