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Article

Comprehensive prenatal diagnostics: Exome versus genome sequencing.

Prenatal diagnosis - 1 Aug 2023

Miceikaite Ieva, Fagerberg Christina, Brasch-Andersen Charlotte, Torring Pernille Mathiesen, Kristiansen Britta Schlott, Hao Qin, Sperling Lene, Ibsen Mette Holm, Löser Katrin, Bendsen Eske Alf, Ousager Lilian Bomme, Larsen Martin Jakob

Abstract excerpt

OBJECTIVE: This study aimed to assess the diagnostic yield of prenatal genetic testing using trio whole exome sequencing (WES) and trio whole genome sequencing (WGS) in pregnancies with fetal anomalies by comparing the results with conventional chromosomal microarray (CMA) analysis. METHODS: A total of 40 pregnancies with fetal anomalies or increased nuchal translucency (NT ≥ 5 mm) were included between the 12th...

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PMID: 37355983
DOI: 10.1002/pd.6402

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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