Observational studyJournal of clinical laboratory analysis2020
Molecular diagnostic in fetuses with isolated congenital anomalies of the kidney and urinary tract by whole-exome sequencing.
Observational study in Journal of clinical laboratory analysis, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 2 of them syntheses that pooled it.
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Who cites it
16 citing papers in PubMed, 2 syntheses or guidelines pooled it, 23 citations in OpenAlex.
- Performance of international phenotypic criteria for prenatal exome sequencing: systematic review and comparative diagnostic accuracy study using historical individual participant data.Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology · 2025Pooled it
- Diagnostic yield of exome sequencing for prenatal diagnosis of fetal structural anomalies: A systematic review and meta-analysis.Prenatal diagnosis · 2022Pooled it
- Prenatal diagnosis of fetuses with renal abnormalities: a retrospective analysis of 329 Chinese cases.Orphanet journal of rare diseases · 2025Article
- Current Controversies in Prenatal Diagnosis-Conference Debate 2024: All Fetuses Undergoing Fetal Therapy Should Have Exome Sequencing.Prenatal diagnosis · 2025Review
- Unilateral Renal Agenesis: Prenatal Diagnosis and Postnatal Issues.Diagnostics (Basel, Switzerland) · 2025Review
- Case report: Multisystemic smooth muscle dysfunction syndrome: a rare genetic cause of infantile interstitial lung disease.Frontiers in pharmacology · 2024Article
- Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.American journal of medical genetics. Part A · 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
- Multidisciplinary approaches for elucidating genetics and molecular pathogenesis of urinary tract malformations.Kidney international · 2022Review
- 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
- Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- Challenges in genetic counseling for congenital anomalies of the kidneys and urinary tract (CAKUT) spectrum.Case reports in perinatal medicine · 2022Article
- Whole Exome Sequencing in a Population With Severe Congenital Anomalies of Kidney and Urinary Tract.Frontiers in pediatrics · 2022Article
- Prenatal Exome Sequencing: Background, Current Practice and Future Perspectives-A Systematic Review.Diagnostics (Basel, Switzerland) · 2021Review
- Molecular diagnostic in fetuses with isolated congenital anomalies of the kidney and urinary tract by whole-exome sequencing.Journal of clinical laboratory analysis · 2020Observational
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundIn prenatal care, accumulating evidences has demonstrated that whole-exome sequencing (WES) expedites the genetic diagnosis of fetal structural anomalies. However, the clinical value of WES in the diagnosis of prenatal isolated congenital anomalies of the kidney and urinary tract (CAKUT) is unknown.
methodsForty-one fetuses with unexplained isolated CAKUT, normal karyotype and negative chromosomal microarray analysis (CMA) results, underwent WES and were accordingly grouped as (a) Group 1: complex cases with bilateral renal abnormalities (N = 19); and (b) Group 2: cases with isolated unilateral fetal renal abnormalities (N = 22).
resultsThe detection rate of WES for pathogenic variants and incidental variants was 7.32% (3/41) and 2.4% (1/41), respectively. The three pathogenic variants were identified in the genes ACTA2 (multisystem smooth muscle dysfunction syndrome), PKHD1 (autosomal recessive form of polycystic kidney disease), and PKD1 (autosomal dominant polycystic kidney disease type 1). The incidental variants were detected in genes PPM1D (syndromic neurodevelopmental disorders). Furthermore, all above fetuses carrying pathogenic variants came from bilateral kidney anomalies. Thus, the detection rate was 0 for fetuses with unilateral fetal renal abnormalities and 15.7% (3/19) for bilateral renal abnormalities.
conclusionThis cohort shows that prenatal WES is a supplementary approach for the etiologic diagnosis of unexplained isolated CAKUT with negative CMA, especially for fetuses with bilateral renal abnormality.
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