Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The . gov means it’s official. Federal government websites often end in . gov or VSports app下载. mil. Before sharing sensitive information, make sure you’re on a federal government site. .

Https

The site is secure. The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely V体育官网. .

. 2025 Sep 24;20(1):486.
doi: 10.1186/s13023-025-04001-x.

Prenatal diagnosis of fetuses with renal abnormalities: a retrospective analysis of 329 Chinese cases

Yayun Qin  1 , Bo Wang  1 , Yuanyuan Zhu  2 , Lijun Liu  1 , Nian Liu  1 , Yanyi Yao  1 , Hui Li  1 , Runhong Xu  1 , Chengcheng Zhang  1 , Jieping Song  3
Affiliations

Prenatal diagnosis of fetuses with renal abnormalities: a retrospective analysis of 329 Chinese cases

Yayun Qin et al. Orphanet J Rare Dis. .

Abstract

Background: There is no clear guidance on prenatal diagnostic testing strategies for congenital renal anomalies. Therefore, this study aims to investigate the retrospective analysis of ultrasound and genetic diagnostic results in cases of fetal renal abnormalities and to establish genotype-phenotype correlations. VSports手机版.

Methods: A total of 329 fetuses with renal abnormalities that underwent prenatal diagnostic testing from January 2020 to April 2023 were recruited in this study V体育安卓版. These cases were classified into 11 subgroups based on their ultrasound diagnosis. All cases underwent chromosomal microarray analysis (CMA) or copy number variation sequencing (CNV-seq), with subsequent whole exome sequencing (WES) conducted on select CMA/CNV-seq negative cases, subject to parental consent for further testing targeting monogenic variations. .

Results: Of the 329 cases analyzed, CMA/CNV-seq detected chromosomal abnormalities in 31 cases, with a detection rate of 9. 4% (31/329) V体育ios版. The most common abnormality was 17q12 deletion, accounting for 29% of the positive cases (9/31) and 2. 7% of the total cases (9/329). WES was conducted on 76 cases (76/298, 25. 5%), revealing 16 monogenic variants, and 2 CNVs in 12 cases (15. 8%). An overall positive diagnostic yield of 13. 1% (43/329) was obtained in the pipeline of combinational CMA/CNV-seq and WES analysis. Ciliary genes (TMEM67, NPHP3, CEP290, BBS2, and TTC8) were frequently implicated by WES. Several genotype-phenotype correlations emerged, including (1) hyperechogenic kidneys associated with 17q12 deletion, (2) renal dysplasia, renal cysts, hydronephrosis, ectopic kidney, and renal duplication with chromosomal abnormalities, (3) unilateral renal agenesis and polycystic kidneys with monogenic variants. .

Conclusion: This study reveals genotype-phenotype correlations in fetal renal abnormalities, informing prenatal counseling regarding diagnostic testing options and expected outcomes. VSports最新版本.

Keywords: Chromosomal abnormalities; Optical genome mapping; Prenatal diagnosis; Renal anomalies; Whole-exome sequencing. V体育平台登录.

PubMed Disclaimer

Conflict of interest statement

Declarations. Ethics approval and consent to participate: This study was conducted in accordance to the Declaration of Helsinki and was approved by the institutional review board of the ethics committee in the Maternal and Child Health Hospital of Hubei Province VSports注册入口. All parents of the fetuses agreed to participate in the study and provided signed informed consent. Consent for publication: Not applicable. Competing interests: The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
Genetic diagnosis of the family with chromosome 17 abnormalities. (A) Pedigree showing renal anomalies in the family. (B) Chromosome 17 abnormalities detected in the two fetuses using CNV-seq. (C) Detailed diagram of chromosome 17 for the fetal father (I-1) and mother (I-2), respectively
See this image and copyright information in PMC

References

    1. Queisser-Luft A, Stolz G, Wiesel A, Schlaefer K, Spranger J. Malformations in newborn: results based on 30,940 infants and fetuses from the Mainz congenital birth defect monitoring system (1990–1998). Arch Gynecol Obstet. 2002;266(3):163–7. - PubMed
    1. Murugapoopathy V, Gupta IR. A primer on congenital anomalies of the kidneys and urinary tracts (CAKUT). Clin J Am Soc Nephrol. 2020;15(5):723–31. - PMC - PubMed
    1. Rasmussen M, Olsen MS, Sunde L, Sperling LS, Petersen OB. Kidney anomalies diagnosed by prenatal ultrasound screening and associated non-urinary malformations: a nationwide prevalence study. Prenat Diagn. 2016;36(9):847–53. - V体育安卓版 - PubMed
    1. Verbitsky M, Westland R, Perez A, Kiryluk K, Liu Q, Krithivasan P, et al. The copy number variation landscape of congenital anomalies of the kidney and urinary tract. Nat Genet. 2019;51(1):117–27. - PMC - PubMed
    1. Li S, Han X, Wang Y, Chen S, Niu J, Qian Z, et al. Chromosomal microarray analysis in fetuses with congenital anomalies of the kidney and urinary tract: A prospective cohort study and meta-analysis. Prenat Diagn. 2019;39(3):165–74. - PubMed

MeSH terms

Supplementary concepts