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Clinical and Molecular Features of Ciliopathies Diagnosed by Prenatal Exome Sequencing in Fetuses With Ultrasound Abnormalities.

Prenatal diagnosis - 1 Feb 2026

Zhu Xiaofan, Zhang Qiaowei, Gao Zhi, Ren Huanan, Xue Shuwen, Sun Gege, Liu Ning, Jiao Zhihui, Kong Xiangdong

Abstract excerpt

OBJECTIVE: To characterize prenatal phenotypes and genetic basis of ciliopathies identified by prenatal exome sequencing (pES) in fetuses with ultrasound abnormalities. METHOD: Singleton pregnancies who underwent pES due to fetal ultrasound abnormalities were retrospectively reviewed between 2020 and 2023. Cases affected by ciliopathies were included if diagnostic variants were identified in 959...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41402916
DOI: 10.1002/pd.70053

Genes

DYNC2H1
FGFR3
PKD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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