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Article

Application of exome sequencing for prenatal diagnosis: a rapid scoping review.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2020

Pratt Misty, Garritty Chantelle, Thuku Micere, Esmaeilisaraji Leila, Hamel Candyce, Hartley Taila, Millar Kathryn, Skidmore Becky, Dougan Shelley, Armour Christine M

Abstract excerpt

Genetic diagnosis provides important information for prenatal decision-making and management. Promising results from exome sequencing (ES) for genetic diagnosis in fetuses with structural anomalies are emerging. The objective of this scoping review was to identify what is known about the use of ES for genetic testing in prenatal cases with known or suspected genetic disease. A rapid scoping review was conducted...

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Exome
Exome Sequencing
Fetus
Genetic Testing
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Prenatal Diagnosis

Prenatal Screening and Diagnostics

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PMID: 32747765
DOI: 10.1038/s41436-020-0918-y

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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