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1. OC07.07: Exome sequencing for structurally normal fetuses: yields and dilemmas.

Author

Daum, H., Harel, T., Eilat, A., Fahham, D., Gershon‐ Naamat, S., Basal, A., Rosenbluh, C., Yanai, N., Porat, S., Kabiri, D., Yagel, S., Valsky, D.V., Elpeleg, O., Meiner, V., and Mor‐Shaked, H.

Abstract

Methods This is a retrospective study, gathering the results of ES in structurally normal fetuses performed in our tertiary centre. Exome sequencing (ES) is usually performed in the prenatal setup as part of the investigation of fetal malformation/s. However, some patients are willing to perform fetal ES without a medical indication. The yield of chromosomal microarray analysis (CMA) is well established in structurally normal fetuses. [Extracted from the article]

Published
2022
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