Evidence map›Paper›PMID 40909434›Full record

ArticleFrontiers in pediatrics2025

Genetic etiology and pregnancy outcomes of fetal hyperechoic kidneys: a retrospective analysis.

Meiying Cai, Na Lin, Ziheng Xiao, Hailong Huang, Lin Zheng, Liangpu Xu

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Article in Frontiers in pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 · Who and what money

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6 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, Fuzhou, China.
Na Lin *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, Fuzhou, China.
Ziheng Xiao *The Clinical Laboratory Center of the Second Affiliated Hospital of Fujian Medical University, Quanzhou, Fujian, China.
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, Fuzhou, China.
Lin ZhengMedical 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, 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, Fuzhou, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Fetal hyperechoic kidney is an important soft marker in prenatal ultrasonography; however, the causes of this phenomenon are unclear. Therefore, we analyzed genetic diagnosis results, assessed pregnancy outcomes, and conducted postnatal follow-up to provide evidence for prenatal eugenics. Methods: We retrospectively analyzed data from 94 cases with fetal hyperechoic kidneys identified between November 2017 and January 2024. Chromosome karyotyping and chromosomal microarray analysis (CMA) were performed on fetuses displaying this phenotype on prenatal ultrasound. For cases with normal results from karyotyping and CMA, whole-exome sequencing (WES) was applied. Results: Among 94 fetuses with hyperechoic kidneys, five were not subject to chromosome karyotyping owing to gestational age constraints, and one sample failed to culture. Of the remaining 88, karyotyping helped detect six cases with abnormal karyotypes. Among 94 fetuses with hyperechoic kidneys, CMA analysis was performed on 90 fetuses, and 17 cases of abnormal copy number variations (CNVs) were detected. Furthermore, among 82 fetuses with normal karyotypes, 10 additional abnormal CNVs were identified. WES, performed on 13 fetuses with normal chromosomal karyotypes and CMA, helped identify three cases of mutations in Conclusions: CMA is recommended when prenatal ultrasound indicates fetal hyperechoic kidneys. For fetuses with normal CNVs and persistent hyperechoic kidneys, WES is advisable to exclude rare monogenic disorders. In cases of hyperechoic kidneys alongside other ultrasound abnormalities, the live birth rate and prognosis tend to be poor; thus, early genetic screening is essential to guide pregnancy management effectively.

Indexed as

chromosomal microarray analysisfetal hyperechoic kidneysgenetic diagnosis in pregnancyprenatal ultrasonographywhole-exome sequencing

Identifiers

PMID40909434
PMCPMC12405368

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