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Exome sequencing for structurally normal fetuses-yields and ethical issues

Exome sequencing for structurally normal fetuses-yields and ethical issues

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9905544

Exome sequencing for structurally normal fetuses-yields and ethical issues

About this item

Full title

Exome sequencing for structurally normal fetuses-yields and ethical issues

Publisher

England: Nature Publishing Group

Journal title

European journal of human genetics : EJHG, 2023-02, Vol.31 (2), p.164-168

Language

English

Formats

Publication information

Publisher

England: Nature Publishing Group

More information

Scope and Contents

Contents

The yield of chromosomal microarray analysis (CMA) is well established in structurally normal fetuses (0.4-1.4%). We aimed to determine the incremental yield of exome sequencing (ES) in this population. From February 2017 to April 2022, 1,526 fetuses were subjected to ES; 482 of them were structurally normal (31.6%). Only pathogenic and likely path...

Alternative Titles

Full title

Exome sequencing for structurally normal fetuses-yields and ethical issues

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9905544

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9905544

Other Identifiers

ISSN

1018-4813

E-ISSN

1476-5438

DOI

10.1038/s41431-022-01169-9

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