Evidence map›Paper›PMID 40804693›Full record

ArticleOrphanet journal of rare diseases2025

Etiology and outcomes of fetal renal abnormalities in Southern China: a single-tertiary-center study.

Meiying Cai, Yashi Gao, Huili Xue, Xianguo Fu, Hua Cao, Liangpu Xu, Na Lin, Hailong Huang

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

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PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors.

Meiying Cai *Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Clinical Research Center for Maternal-Fetal Medicine, National Key Obstetric Clinical Specialty Construction Institution of China, Fuzhou, China.
Yashi Gao *Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Clinical Research Center for Maternal-Fetal Medicine, National Key Obstetric Clinical Specialty Construction Institution of China, Fuzhou, China.
Huili Xue *Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Clinical Research Center for Maternal-Fetal Medicine, National Key Obstetric Clinical Specialty Construction Institution of China, Fuzhou, China.
Xianguo FuDepartment of Prenatal Diagnosis, Ningde Municipal Hospital, Ningde Normal University, Ningde, China.
Hua CaoMedical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Clinical Research Center for Maternal-Fetal Medicine, National Key Obstetric Clinical Specialty Construction Institution of China, Fuzhou, China.
Liangpu XuMedical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Clinical Research Center for Maternal-Fetal Medicine, National Key Obstetric Clinical Specialty Construction Institution of China, Fuzhou, China. xiliangpu@fjmu.edu.cn.
Na LinMedical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Clinical Research Center for Maternal-Fetal Medicine, National Key Obstetric Clinical Specialty Construction Institution of China, Fuzhou, China. linna1088@fjmu.edu.cn.
Hailong HuangMedical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Clinical Research Center for Maternal-Fetal Medicine, National Key Obstetric Clinical Specialty Construction Institution of China, Fuzhou, China. huanghailong@fjmu.edu.cn.

Funding

Fujian Provincial Natural Science Foundation 2021J01407
6 · The paper itself

Abstract

backgroundAlthough renal abnormalities are common during fetal growth, the etiology remains largely unclear. This study aimed to determine the outcomes of fetuses with renal anomalies and the corresponding etiologies. We retrospectively analyzed data from 1,019 cases for which chromosomal microarray analysis (CMA) was performed; 58 CMA-negative fetuses were selected for whole-exome sequencing (WES).

resultsPathogenic copy-number variations were detected in 88 (8.6%) cases, comprising 25 aneuploidies, 10 macrodeletions/macroduplications, and 53 microdeletions/microduplications. Among the latter, abnormalities in the 22q11.2 or 17q12 region were the most common, followed by those in the 16p11.2 region. Of the 58 CMA-negative samples, six showed abnormal WES results. The genes with pathogenic variants were KMT2D, PKD1, BBS1, NPHP3, BBS2, and HNF1B. Hyperechogenic kidney was associated with the highest rate of pathogenic variation (19.8%), followed by renal dysplasia (18.8%). In contrast, hydronephrosis and horseshoe kidney were associated with the lowest incidence of pathogenic variants. The 871 cases with successful follow-up (85.5%) included 120 terminations, 2 stillbirths, and 4 perinatal deaths. Of the remaining 745 live births with renal abnormalities, 63 underwent surgery, and 3 presented with developmental delay. Surgery was most commonly performed in newborns with hydronephrosis (26.8%).

conclusionsThe prenatal ultrasound-screening of fetal renal abnormalities, whether isolated or non-isolated, should be accompanied by rapid etiological analysis. In particular, we noted a high incidence of pathogenic variants in fetal hyperechogenic kidneys, while hydronephrosis was associated with few pathogenic variants and good prognosis after birth. The etiology of fetal renal abnormalities remains unclear for many patients. In this study, we investigated the underlying causes, clinical phenotypes, and outcomes. We performed whole-exome sequencing on 1,019 specimens from fetuses with ultrasound-verified renal abnormalities. Our single-tertiary-center study expands on the etiology of renal abnormalities and confirms the clinical utility of whole-exome sequencing for prenatal screening.

Indexed as

KidneyAdultChinaDNA Copy Number VariationsExome SequencingFemaleFetusHumansMalePregnancyRetrospective StudiesPathogenic variantPrenatal ultrasoundRenal abnormalityWhole-exome sequencing

Identifiers

PMID40804693
PMCPMC12345003

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