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Prenatal diagnosis in the fetal hyperechogenic kidneys: assessment using chromosomal microarray analysis and exome sequencing

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Abstract

Fetal hyperechogenic kidneys (HEK) is etiologically a heterogeneous disorder. The aim of this study was to identify the genetic causes of HEK using prenatal chromosomal microarray analysis (CMA) and exome sequencing (ES). From June 2014 to September 2022, we identified 92 HEK fetuses detected by ultrasound. We reviewed and documented other ultrasound anomalies, microscopic and submicroscopic chromosomal abnormalities, and single gene disorders. We also analyzed the diagnostic yield of CMA and ES and the clinical impact the diagnosis had on pregnancy management. In our cohort, CMA detected 27 pathogenic copy number variations (CNVs) in 25 (25/92, 27.2%) fetuses, with the most common CNV being 17q12 microdeletion syndrome. Among the 26 fetuses who underwent further ES testing, we identified 7 pathogenic/likely pathogenic variants and 8 variants of uncertain significance in 9 genes in 12 fetuses. Four novel variants were first reported herein, expanding the mutational spectra for HEK-related genes. Following counseling, 52 families chose to continue the pregnancy, and in 23 of them, postnatal ultrasound showed no detectable renal abnormalities. Of these 23 cases, 15 had isolated HEK on prenatal ultrasound. Taken together, our study showed a high rate of detectable genetic etiologies in cases with fetal HEK at the levels of chromosomal (aneuploidy), sub-chromosomal (microdeletions/microduplications), and single gene (point mutations). Therefore, we speculate that combined CMA and ES testing for fetal HEK is feasible and has good clinical utility. When no genetic abnormalities are identified, the findings can be transient, especially in the isolated HEK group.

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Data availability

The data that support the findings of this study are not publicly available as the information contained could compromise the privacy of research participants. Further inquiries can be directed to the corresponding author.

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Acknowledgements

We thank all the participants in this study.

Funding

This research was funded by the sub-project of the National Key R&D Program (2021YFC2701002), the National Natural Science Foundation of China (82101796, 81801461, 81873836, 81771594, 82201884), the Natural Science Foundation of Guangdong Province (2019A1515012034), the Project of Guangzhou Science and Technology Bureau (202201020643, 202201010879, 20221A011029), and the Research Foundation of Guangzhou Women and Children’s Medical Center for Clinical Doctors (2020BS030).

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  1. Ruibin Huang, Fang Fu and Hang Zhou contributed equally to this work.

Authors and Affiliations

  1. Prenatal Diagnostic Center, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, 510620, Guangdong, China

    Ruibin Huang, Fang Fu, Hang Zhou, Lu Zhang, Tingying Lei, Ken Cheng, Shujuan Yan, Fei Guo, You Wang, Chunling Ma, Ru Li, Qiuxia Yu, Qiong Deng, Lushan Li, Xin Yang, Jin Han, Dongzhi Li & Can Liao

  2. School of Medicine, South China University of Technology, Guangzhou, 510641, Guangdong, China

    Ken Cheng

  3. The First Clinical Medical College, Southern Medical University, Guangzhou, 510515, Guangdong, China

    You Wang & Chunling Ma

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  1. Ruibin Huang
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Contributions

Manuscript writing: RH, FF, and HZ; study design and manuscript editing: SY, DL, and CL; document retrieval: TL, YW, CM, and KC; exome sequence variants classification: RL, QY, and QD; clinical data statistics: LZ, FG, XY, LL, and JH. All authors have read and agreed to the published version of the manuscript.

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Correspondence to Can Liao.

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Huang, R., Fu, F., Zhou, H. et al. Prenatal diagnosis in the fetal hyperechogenic kidneys: assessment using chromosomal microarray analysis and exome sequencing. Hum Genet 142, 835–847 (2023). https://doi.org/10.1007/s00439-023-02545-1

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