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Article

Whole exome sequencing of fetal structural anomalies detected by ultrasonography.

Journal of human genetics - 1 May 2021

Aoi Hiromi, Mizuguchi Takeshi, Suzuki Toshifumi, Makino Shintaro, Yamamoto Yuka, Takeda Jun, Maruyama Yojiro, Seyama Rie, Takeuchi Shiori, Uchiyama Yuri, Azuma Yoshiteru, Hamanaka Kohei, Fujita Atsushi, Koshimizu Eriko, Miyatake Satoko, Mitsuhashi Satomi, Takata Atsushi, Miyake Noriko, Takeda Satoru, Itakura Atsuo, Matsumoto Naomichi

Abstract excerpt

The objective of this study was to evaluate the efficacy of whole exome sequencing (WES) for the genetic diagnosis of cases presenting with fetal structural anomalies detected by ultrasonography. WES was performed on 19 cases with prenatal structural anomalies. Genomic DNA was extracted from umbilical cords or umbilical blood obtained shortly after birth. WES data were analyzed on prenatal phenotypes alone, and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33144663
DOI: 10.1038/s10038-020-00869-8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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