ArticleMolecular cytogenetics2019
Is an analysis of copy number variants necessary for various types of kidney ultrasound anomalies in fetuses?
Article in Molecular cytogenetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
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Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it, 13 citations in OpenAlex.
- A cohort study of fetal urinary tract abnormalities and chromosomal copy number variations: a retrospective analysis of 9-year data.Archives of gynecology and obstetrics · 2026Pooled it
- Genetic Analysis of Prenatal Renal Abnormalities in 17q12 Microdeletion Syndrome.Maternal-fetal medicine (Wolters Kluwer Health, Inc.) · 2025Article
- Prenatal diagnosis and family analysis of 17q12 microdeletion syndrome with fetal renal abnormalities.Frontiers in genetics · 2024Article
- Identification of complex and cryptic chromosomal rearrangements by optical genome mapping.Molecular cytogenetics · 2023Article
- Review of genetic testing in kidney disease patients: Diagnostic yield of single nucleotide variants and copy number variations evaluated across and within kidney phenotype groups.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Review
- Review
- Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges-Systematic Review of the Literature and Meta-Analysis.Diagnostics (Basel, Switzerland) · 2022Review
- Treatment for complete bilateral duplex kidneys with severe hydronephrosis and ureterectasis of the upper moiety in a child: A case report and literature review.Frontiers in surgery · 2022Article
- Etiology and management of early pregnancy renal anhydramnios: Is there a place for serial amnioinfusions?Prenatal diagnosis · 2020Review
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThis study aimed to estimate the associations of copy number variants (CNVs) with fetal kidney ultrasound anomalies. A total of 331 fetuses with kidney ultrasound anomalies who underwent prenatal chromosomal microarray analyses were enrolled. The fetuses were classified into groups with isolated and nonisolated anomalies or according to the types of kidney anomalies.
resultsClinically significant CNVs were identified in 3.4% or 7.3% of fetuses with isolated or nonisolated kidney anomalies, respectively. CNVs were more frequently identified in fetuses with abnormal embryonic migration of the kidneys (6.6%) than in fetuses with malformations of the renal parenchyma (4.7%) or anomalies of the urinary collecting system (3.4%). In particular, CNVs were most frequently detected in fetuses with ectopic kidneys (9.5%) but not in fetuses with horseshoe kidneys or isolated duplex kidneys. Among these CNVs, the most common were del(17)(q12q12) (1.2%) and del(22)(q11q11) (0.6%). The dup(17)(p12p12) and del(15)(q11.2q11.2) CNVs were identified in this study but not in previous studies. The del(X)(p11.4p11.4) and del(16)(p13.3p13.3) CNVs were further implicated as associated with kidney anomalies.
conclusionsFetuses with abnormal embryonic migration of the kidneys (particularly ectopic kidneys) showed a higher frequency of clinically significant CNVs, whereas fetuses with horseshoe kidneys or duplex kidneys were less frequently associated with these CNVs.
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