Exome sequencing as first‐tier test for fetuses with severe central nervous system structural anomalies

OBJECTIVE: Prenatally detected central nervous system (CNS) anomalies present a diagnostic challenge. In this study, we compared the diagnostic yield of exome sequencing (ES) and chromosomal microarray analysis (CMA) in fetuses with a major CNS anomaly. METHODS: This was a retrospective study of 114...

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Detalles Bibliográficos
Autores principales: Yaron, Y., Ofen Glassner, V., Mory, A., Zunz Henig, N., Kurolap, A., Bar Shira, A., Brabbing Goldstein, D., Marom, D., Ben Sira, L., Baris Feldman, H., Malinger, G., Krajden Haratz, K., Reches, A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd. 2022
Materias:
Original Papers
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9328397/
https://www.ncbi.nlm.nih.gov/pubmed/35229910
http://dx.doi.org/10.1002/uog.24885

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