Evidence map›Paper›PMID 32211073›Full record

ArticleMolecular cytogenetics2020

Copy number variations associated with fetal congenital kidney malformations.

Meiying Cai, Na Lin, Linjuan Su, Xiaoqing Wu, Xiaorui Xie, Ying Li, Xuemei Chen, Yuan Lin, Hailong Huang, Liangpu Xu

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular cytogenetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
0.8field-weighted citation impact, top 31% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

9 citing papers in PubMed, 13 citations in OpenAlex.

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4 · The record

Corrections and comments

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

10 authors at 1 institution in 1 country.

Meiying Cai *Department of the Prenatal Diagnosis Center, Fujian Provincial Maternity and Children's Hospital, affiliated hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China.
Na Lin *Department of the Prenatal Diagnosis Center, Fujian Provincial Maternity and Children's Hospital, affiliated hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China.
Linjuan SuDepartment of the Prenatal Diagnosis Center, Fujian Provincial Maternity and Children's Hospital, affiliated hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China.
Xiaoqing WuDepartment of the Prenatal Diagnosis Center, Fujian Provincial Maternity and Children's Hospital, affiliated hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China.
Xiaorui XieDepartment of the Prenatal Diagnosis Center, Fujian Provincial Maternity and Children's Hospital, affiliated hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China.
Ying LiDepartment of the Prenatal Diagnosis Center, Fujian Provincial Maternity and Children's Hospital, affiliated hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China.
Xuemei ChenDepartment of the Prenatal Diagnosis Center, Fujian Provincial Maternity and Children's Hospital, affiliated hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China.
Yuan LinDepartment of the Prenatal Diagnosis Center, Fujian Provincial Maternity and Children's Hospital, affiliated hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China.
Hailong HuangDepartment of the Prenatal Diagnosis Center, Fujian Provincial Maternity and Children's Hospital, affiliated hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China.
Liangpu XuDepartment of the Prenatal Diagnosis Center, Fujian Provincial Maternity and Children's Hospital, affiliated hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China.
Fujian Medical University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundCongenital anomalies of the kidney and urinary tract (CAKUT) constitute 20-30% of all congenital malformations. Within the CAKUT phenotypic spectrum, renal hypodysplasia (RHD) is particularly severe. This study aimed to evaluate the applicability of single-nucleotide polymorphism (SNP) array test in prenatal diagnosis of RHD for improving prenatal genetic counseling and to search for evidence of a possible causative role of copy-number variations (CNVs) in RHD.

resultsWe performed a systematic survey of CNV burden in 120 fetuses with RHD: 103 cases were isolated RHD and 17 were non-isolated RHD. Single-nucleotide polymorphism (SNP) array test was performed using the Affymetrix CytoScan HD platform. All annotated CNVs were validated by fluorescence in situ hybridization. We identified abnormal CNVs in 15 (12.5%) cases of RHD; of these CNVs, 11 were pathogenic and 4 were variants of uncertain significance. The detection rate of abnormal CNVs in non-isolated RHD was higher (29.4%, 5/17) than that in isolated RHD (9.7%, 10/103) (

conclusionsThe variable phenotypes that abnormal CNVs may cause indicate the genetic counseling is needed for RHD cases.

Indexed as

Chromosomal microarray analysisCopy-number variationsEtiologyRenal hypodysplasia

Identifiers

PMID32211073
PMCPMC7092440
OpenAlexW3013113164

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.