Prenatal diagnosis for de novo mutations: Experience from a tertiary center over a 10-year period.
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ABSTRACT:
SUBMITTER: Eyal O
PROVIDER: S-EPMC6465671 | biostudies-literature | 2019 Apr
REPOSITORIES: biostudies-literature
Publications
Prenatal diagnosis for de novo mutations: Experience from a tertiary center over a 10-year period.
Eyal Ori O Berkenstadt Michal M Reznik-Wolf Haike H Poran Hana H Ziv-Baran Tomer T Greenbaum Lior L Yonath Hagit H Pras Elon E
Molecular genetics & genomic medicine 20190128 4
<h4>Background</h4>This study summarizes the results of prenatal diagnosis due to a history of de novo mutation in a previous pregnancy, in a tertiary center in Israel, over a 10-year period.<h4>Methods</h4>We sorted all cases of de novo mutations from a pool of 2,260 pregnancies for which prenatal molecular diagnosis was applied, between the years 2008 and 2017. We identified 122 molecular prenatal diagnosis performed for de novo mutations, in 90 women.<h4>Results</h4>While the total number of ...[more]
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